Raras
Buscar doenças, sintomas, genes...
Síndrome progeroide
ORPHA:139033CID-11 · LD2BDOENÇA RARA

Um grupo de doenças genéticas raras que simulam o envelhecimento natural do corpo, fazendo com que as pessoas afetadas pareçam mais velhas do que realmente são.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Um grupo de doenças genéticas raras que simulam o envelhecimento natural do corpo, fazendo com que as pessoas afetadas pareçam mais velhas do que realmente são.

Publicações científicas
326 artigos
Último publicado: 2026 Mar 19
🏥
SUS: Sem cobertura SUSScore: 0%
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🦴
Ossos e articulações
66 sintomas
🧠
Neurológico
59 sintomas
🧬
Pele e cabelo
49 sintomas
👁️
Olhos
47 sintomas
😀
Face
45 sintomas
❤️
Coração
37 sintomas

+ 240 sintomas em outras categorias

Características mais comuns

Calvária espessada
Disfunção sistólica do ventrículo esquerdo
Pápula
Fenômeno de Raynaud
Dor no quadril
Lagoftalmo noturno
679sintomas
Sem dados (679)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 679 características clínicas mais associadas, ordenadas por frequência.

Calvária espessadaThickened calvaria
Disfunção sistólica do ventrículo esquerdoLeft ventricular systolic dysfunction
PápulaPapule
Fenômeno de RaynaudRaynaud phenomenon
Dor no quadrilHip pain

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico326PubMed
Últimos 10 anos177publicações
Pico202021 papers
Linha do tempo
2026Hoje · 2026🧪 1999Primeiro ensaio clínico📈 2020Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

18 genes identificados com associação a esta condição.

MTX2Metaxin-2Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Involved in transport of proteins into the mitochondrion

LOCALIZAÇÃO

Mitochondrion outer membraneMitochondrion

VIAS BIOLÓGICAS (2)
Mitochondrial protein importCristae formation
MECANISMO DE DOENÇA

Mandibuloacral dysplasia progeroid syndrome

A form of mandibuloacral dysplasia, a rare progeroid disorder with clinical and genetic heterogeneity, characterized by growth retardation, craniofacial dysmorphic features due to distal bone resorption, musculoskeletal and skin abnormalities associated with lipodystrophy. MDPS is an autosomal recessive disorder. Clinical features include poor growth, osteoporosis, osteopenia, acroosteolysis of distal phalanges, arterial calcification, renal glomerulosclerosis and severe hypertension.

EXPRESSÃO TECIDUAL(Ubíquo)
Testículo
81.7 TPM
Linfócitos
65.9 TPM
Fibroblastos
54.7 TPM
Brain Frontal Cortex BA9
53.5 TPM
Brain Spinal cord cervical c-1
48.4 TPM
OUTRAS DOENÇAS (1)
mandibuloacral dysplasia progeroid syndrome
HGNC:7506UniProt:O75431
ERCC1DNA excision repair protein ERCC-1Candidate gene tested inTolerante
FUNÇÃO

Non-catalytic component of a structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair. Responsible, in conjunction with SLX4, for the first step in the repair of interstrand cross-links (ICL). Participates in the processing of anaphase bridge-generating DNA structures, which consist in incompletely processed DNA lesions arising during S or G2 phase, and can result in cytokinesis failure. Also required for homology-directed repair (HDR) of DNA double-strand bre

LOCALIZAÇÃO

NucleusCytoplasm

VIAS BIOLÓGICAS (5)
HDR through Single Strand Annealing (SSA)Dual incision in TC-NERDual Incision in GG-NERFormation of Incision Complex in GG-NERFanconi Anemia Pathway
MECANISMO DE DOENÇA

Cerebro-oculo-facio-skeletal syndrome 4

A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome.

EXPRESSÃO TECIDUAL(Ubíquo)
Fibroblastos
57.0 TPM
Cervix Endocervix
51.7 TPM
Ovário
50.5 TPM
Útero
49.6 TPM
Cervix Ectocervix
49.6 TPM
OUTRAS DOENÇAS (3)
cerebrooculofacioskeletal syndrome 4Cockayne syndrome type 2COFS syndrome
HGNC:3433UniProt:P07992
ZMPSTE24CAAX prenyl protease 1 homologCandidate gene tested inTolerante
FUNÇÃO

Transmembrane metalloprotease whose catalytic activity is critical for processing lamin A/LMNA on the inner nuclear membrane and clearing clogged translocons on the endoplasmic reticulum (PubMed:33293369, PubMed:33315887). Proteolytically removes the C-terminal three residues of farnesylated proteins (PubMed:33293369, PubMed:33315887). Also plays an antiviral role independently of its protease activity by restricting enveloped RNA and DNA viruses, including influenza A, Zika, Ebola, Sindbis, ves

LOCALIZAÇÃO

Endoplasmic reticulum membraneNucleus inner membraneEarly endosome membraneLate endosome membrane

MECANISMO DE DOENÇA

Mandibuloacral dysplasia with type B lipodystrophy

A form of mandibuloacral dysplasia, a rare progeroid disorder with clinical and genetic heterogeneity, characterized by growth retardation, craniofacial dysmorphic features due to distal bone resorption, musculoskeletal and skin abnormalities associated with lipodystrophy. MADB is a disease characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, joint contractures, and generalized lipodystrophy with loss of subcutaneous fat from the extremities, face, neck and trunk.

EXPRESSÃO TECIDUAL(Ubíquo)
Aorta
70.8 TPM
Fibroblastos
63.2 TPM
Útero
58.5 TPM
Fallopian Tube
49.5 TPM
Artéria coronária
43.6 TPM
OUTRAS DOENÇAS (4)
mandibuloacral dysplasia with type B lipodystrophyrestrictive dermopathy 1restrictive dermopathyHutchinson-Gilford progeria syndrome
HGNC:12877UniProt:O75844
POLR3ADNA-directed RNA polymerase III subunit RPC1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalytic core component of RNA polymerase III (Pol III), a DNA-dependent RNA polymerase which synthesizes small non-coding RNAs using the four ribonucleoside triphosphates as substrates. Synthesizes 5S rRNA, snRNAs, tRNAs and miRNAs from at least 500 distinct genomic loci (PubMed:19609254, PubMed:19631370, PubMed:20413673, PubMed:33335104, PubMed:33558764, PubMed:33558766, PubMed:34675218, PubMed:35637192, PubMed:9331371). Pol III-mediated transcription cycle proceeds through transcription init

LOCALIZAÇÃO

NucleusCytoplasm, cytosol

VIAS BIOLÓGICAS (1)
Cytosolic sensors of pathogen-associated DNA
MECANISMO DE DOENÇA

Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism

An autosomal recessive neurodegenerative disorder characterized by childhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression. Other features may include hypodontia or oligodontia and hypogonadotropic hypogonadism. There is considerable inter- and intrafamilial variability.

EXPRESSÃO TECIDUAL(Ubíquo)
Cérebro - Hemisfério cerebelar
19.6 TPM
Cerebelo
18.6 TPM
Pituitária
15.8 TPM
Fibroblastos
14.5 TPM
Linfócitos
12.7 TPM
OUTRAS DOENÇAS (7)
leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadismWiedemann-Rautenstrauch syndrometremor-ataxia-central hypomyelination syndromeodontoleukodystrophy
HGNC:30074UniProt:O14802
BANF1Barrier-to-autointegration factorDisease-causing germline mutation(s) inDesconhecido
FUNÇÃO

Non-specific DNA-binding protein that plays key roles in mitotic nuclear reassembly, chromatin organization, DNA damage response, gene expression and intrinsic immunity against foreign DNA (PubMed:10908652, PubMed:11792822, PubMed:12163470, PubMed:18005698, PubMed:25991860, PubMed:28841419, PubMed:31796734, PubMed:32792394). Contains two non-specific double-stranded DNA (dsDNA)-binding sites which promote DNA cross-bridging (PubMed:9465049). Plays a key role in nuclear membrane reformation at th

LOCALIZAÇÃO

NucleusChromosomeNucleus envelopeCytoplasm

VIAS BIOLÓGICAS (4)
Initiation of Nuclear Envelope (NE) ReformationVpr-mediated nuclear import of PICsIntegration of provirusAPOBEC3G mediated resistance to HIV-1 infection
MECANISMO DE DOENÇA

Nestor-Guillermo progeria syndrome

An atypical progeroid syndrome characterized by normal development in the first years of life, later followed by the emergence of generalized lipoatrophy, severe osteoporosis, and marked osteolysis. The atrophic facial subcutaneous fat pad and the marked osteolysis of the maxilla and mandible result in a typical pseudosenile facial appearance with micrognathia, prominent subcutaneous venous patterning, a convex nasal ridge, and proptosis. Cognitive development is completely normal. Patients do not have cardiovascular dysfunction, atherosclerosis, or metabolic anomalies.

OUTRAS DOENÇAS (1)
Nestor-Guillermo progeria syndrome
HGNC:17397UniProt:O75531
FBN1Fibrillin-1Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Structural component of the 10-12 nm diameter microfibrils of the extracellular matrix, which conveys both structural and regulatory properties to load-bearing connective tissues (PubMed:15062093, PubMed:1860873). Fibrillin-1-containing microfibrils provide long-term force bearing structural support (PubMed:27026396). In tissues such as the lung, blood vessels and skin, microfibrils form the periphery of the elastic fiber, acting as a scaffold for the deposition of elastin (PubMed:27026396). In

LOCALIZAÇÃO

SecretedSecreted, extracellular space, extracellular matrix

VIAS BIOLÓGICAS (2)
Post-translational protein phosphorylationRegulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
MECANISMO DE DOENÇA

Marfan syndrome

A hereditary disorder of connective tissue that affects the skeletal, ocular, and cardiovascular systems. A wide variety of skeletal abnormalities occurs with Marfan syndrome, including scoliosis, chest wall deformity, tall stature, abnormal joint mobility. Ectopia lentis occurs in most of the patients and is almost always bilateral. The leading cause of premature death is progressive dilation of the aortic root and ascending aorta, causing aortic incompetence and dissection. Neonatal Marfan syndrome is the most severe form resulting in death from cardiorespiratory failure in the first few years of life.

EXPRESSÃO TECIDUAL(Ubíquo)
Fibroblastos
295.9 TPM
Artéria coronária
63.8 TPM
Aorta
63.1 TPM
Tecido adiposo
54.3 TPM
Esôfago - Junção
48.0 TPM
OUTRAS DOENÇAS (14)
geleophysic dysplasia 2Weill-Marchesani syndrome 2, dominantMASS syndromeectopia lentis 1, isolated, autosomal dominant
HGNC:3603UniProt:P35555
LMNAPrelamin-A/CDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Lamins are intermediate filament proteins that assemble into a filamentous meshwork, and which constitute the major components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane (PubMed:10080180, PubMed:10580070, PubMed:10587585, PubMed:10814726, PubMed:11799477, PubMed:12075506, PubMed:12927431, PubMed:15317753, PubMed:18551513, PubMed:18611980, PubMed:2188730, PubMed:22431096, PubMed:2344612, PubMed:23666920, PubMed:24741066, PubMed:31434876, PubMed:

LOCALIZAÇÃO

Nucleus laminaNucleus envelopeNucleus, nucleoplasmNucleus matrixNucleus speckle

VIAS BIOLÓGICAS (1)
Initiation of Nuclear Envelope (NE) Reformation
MECANISMO DE DOENÇA

Emery-Dreifuss muscular dystrophy 2, autosomal dominant

A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects.

EXPRESSÃO TECIDUAL(Ubíquo)
Fibroblastos
392.7 TPM
Aorta
300.6 TPM
Skin Not Sun Exposed Suprapubic
297.7 TPM
Skin Sun Exposed Lower leg
272.6 TPM
Útero
255.8 TPM
OUTRAS DOENÇAS (23)
restrictive dermopathy 2familial partial lipodystrophy, Dunnigan typedilated cardiomyopathy-hypergonadotropic hypogonadism syndromemandibuloacral dysplasia with type A lipodystrophy
HGNC:6636UniProt:P02545
BUD13BUD13 homologDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Involved in pre-mRNA splicing as component of the activated spliceosome. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (1)
mRNA Splicing - Major Pathway
MECANISMO DE DOENÇA

Achalasia-progeroid syndrome

An autosomal recessive syndrome characterized by lipodystrophy with onset in childhood, progeroid appearance, corneal clouding, achalasia, progressive hearing loss, and variable severity. Some affected individuals manifest stunted growth and intellectual disability, and death within the first decade of life has been reported.

OUTRAS DOENÇAS (1)
achalasia-progeroid syndrome
HGNC:HGNC:28199UniProt:Q9BRD0
ERCC6DNA excision repair protein ERCC-6Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Essential factor involved in transcription-coupled nucleotide excision repair (TC-NER), a process during which RNA polymerase II-blocking lesions are rapidly removed from the transcribed strand of active genes (PubMed:16246722, PubMed:20541997, PubMed:22483866, PubMed:26620705, PubMed:32355176, PubMed:34526721, PubMed:38316879, PubMed:38600235, PubMed:38600236). Plays a central role in the initiation of the TC-NER process: specifically recognizes and binds RNA polymerase II stalled at a lesion,

LOCALIZAÇÃO

NucleusChromosome

VIAS BIOLÓGICAS (7)
Formation of TC-NER Pre-Incision ComplexDual incision in TC-NERGap-filling DNA repair synthesis and ligation in TC-NERTranscription-Coupled Nucleotide Excision Repair (TC-NER)ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
MECANISMO DE DOENÇA

Cockayne syndrome B

A rare disorder characterized by cutaneous sensitivity to sunlight, abnormal and slow growth, cachectic dwarfism, progeroid appearance, progressive pigmentary retinopathy and sensorineural deafness. There is delayed neural development and severe progressive neurologic degeneration resulting in intellectual disability. Two clinical forms are recognized: in the classical form or Cockayne syndrome type 1, the symptoms are progressive and typically become apparent within the first few years or life; the less common Cockayne syndrome type 2 is characterized by more severe symptoms that manifest prenatally. Cockayne syndrome shows some overlap with certain forms of xeroderma pigmentosum. Unlike xeroderma pigmentosum, patients with Cockayne syndrome do not manifest increased freckling and other pigmentation abnormalities in the skin and have no significant increase in skin cancer.

EXPRESSÃO TECIDUAL(Ubíquo)
Aorta
9.3 TPM
Fibroblastos
7.9 TPM
Skin Sun Exposed Lower leg
7.0 TPM
Tireoide
6.6 TPM
Skin Not Sun Exposed Suprapubic
6.6 TPM
OUTRAS DOENÇAS (11)
premature ovarian failure 11UV-sensitive syndrome 1de Sanctis-Cacchione syndromecerebrooculofacioskeletal syndrome 1
HGNC:3438UniProt:Q03468
ERCC8DNA excision repair protein ERCC-8Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Substrate-recognition component of the CSA complex, a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex, involved in transcription-coupled nucleotide excision repair (TC-NER), a process during which RNA polymerase II-blocking lesions are rapidly removed from the transcribed strand of active genes (PubMed:12732143, PubMed:16751180, PubMed:16964240, PubMed:32142649, PubMed:34526721, PubMed:38316879, PubMed:38600235, PubMed:38600236). Following recruitment to lesion-stalled RNA polymerase I

LOCALIZAÇÃO

NucleusChromosomeNucleus matrix

VIAS BIOLÓGICAS (5)
Formation of TC-NER Pre-Incision ComplexDual incision in TC-NERGap-filling DNA repair synthesis and ligation in TC-NERTranscription-Coupled Nucleotide Excision Repair (TC-NER)Neddylation
MECANISMO DE DOENÇA

Cockayne syndrome A

A rare disorder characterized by cutaneous sensitivity to sunlight, abnormal and slow growth, cachectic dwarfism, progeroid appearance, progressive pigmentary retinopathy and sensorineural deafness. There is delayed neural development and severe progressive neurologic degeneration resulting in intellectual disability. Two clinical forms are recognized: in the classical form or Cockayne syndrome type 1, the symptoms are progressive and typically become apparent within the first few years or life; the less common Cockayne syndrome type 2 is characterized by more severe symptoms that manifest prenatally. Cockayne syndrome shows some overlap with certain forms of xeroderma pigmentosum. Unlike xeroderma pigmentosum, patients with Cockayne syndrome do not manifest increased freckling and other pigmentation abnormalities in the skin and have no significant increase in skin cancer.

EXPRESSÃO TECIDUAL(Ubíquo)
Fibroblastos
10.0 TPM
Testículo
9.5 TPM
Linfócitos
8.5 TPM
Tireoide
8.0 TPM
Nervo tibial
7.0 TPM
OUTRAS DOENÇAS (5)
UV-sensitive syndrome 2Cockayne syndrome type 1Cockayne syndrome type 2UV-sensitive syndrome
HGNC:3439UniProt:Q13216
TOMM7Mitochondrial import receptor subunit TOM7 homologDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Component of the translocase of the outer membrane of mitochondria (TOM) complex essential for the recognition and translocation of cytosolically synthesized mitochondrial preproteins (PubMed:40080546). The TOM complex associates with the ion channel VDAC2 and PINK1 kinase at depolarized mitochondria, this interaction stabilizes PINK1 at the outer mitochondrial membrane and triggers downstream mitophagy by the recruitment of the E3 ubiquitin ligase PRKN (PubMed:40080546)

LOCALIZAÇÃO

Mitochondrion outer membrane

VIAS BIOLÓGICAS (2)
PINK1-PRKN Mediated MitophagyMitochondrial protein import
MECANISMO DE DOENÇA

Garg-Mishra progeroid syndrome

An autosomal recessive syndrome characterized by a progeroid appearance, severe dwarfism, mandibular hypoplasia, hyperopia, and partial lipodystrophy.

EXPRESSÃO TECIDUAL(Ubíquo)
Ovário
496.3 TPM
Artéria tibial
372.4 TPM
Cervix Ectocervix
366.4 TPM
Aorta
365.2 TPM
Cólon sigmoide
358.6 TPM
OUTRAS DOENÇAS (1)
Garg-Mishra progeroid syndrome
HGNC:HGNC:21648UniProt:Q9P0U1
ERCC4DNA repair endonuclease XPFDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Catalytic component of a structure-specific DNA repair endonuclease responsible for the 5-prime incision during DNA repair, and which is essential for nucleotide excision repair (NER) and interstrand cross-link (ICL) repair

LOCALIZAÇÃO

NucleusChromosome

VIAS BIOLÓGICAS (5)
HDR through Single Strand Annealing (SSA)Dual incision in TC-NERDual Incision in GG-NERFormation of Incision Complex in GG-NERFanconi Anemia Pathway
MECANISMO DE DOENÇA

Xeroderma pigmentosum complementation group F

An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. XP-F patients show a mild phenotype.

EXPRESSÃO TECIDUAL(Ubíquo)
Testículo
13.8 TPM
Fibroblastos
6.2 TPM
Linfócitos
5.4 TPM
Cervix Endocervix
5.1 TPM
Fallopian Tube
5.1 TPM
OUTRAS DOENÇAS (7)
Fanconi anemia complementation group Qxeroderma pigmentosum group FXFE progeroid syndromexeroderma pigmentosum
HGNC:3436UniProt:Q92889
RECQLATP-dependent DNA helicase Q1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

DNA helicase that plays a role in DNA damage repair and genome stability (PubMed:15886194, PubMed:35025765, PubMed:7527136, PubMed:7961977, PubMed:8056767). Exhibits a Mg(2+)- and ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3'-5' direction (PubMed:19151156, PubMed:35025765, PubMed:7527136, PubMed:8056767). Full-length protein unwinds forked DNA substrates, resolves Holliday junctions, and has DNA strand annealing activity (PubMed:19151156, PubMed:2583149

LOCALIZAÇÃO

Nucleus

MECANISMO DE DOENÇA

RECON progeroid syndrome

An autosomal recessive syndrome characterized by short stature, progeroid facial features, a hypoplastic nose, xeroderma, skin photosensitivity, muscle wasting with reduced subcutaneous fat, and slender elongated thumbs.

EXPRESSÃO TECIDUAL(Ubíquo)
Fibroblastos
83.3 TPM
Linfócitos
81.8 TPM
Aorta
40.5 TPM
Artéria tibial
39.2 TPM
Artéria coronária
35.6 TPM
OUTRAS DOENÇAS (1)
RECON progeroid syndrome
HGNC:HGNC:9948UniProt:P46063
SUPT7LSTAGA complex 65 subunit gammaDisease-causing germline mutation(s) inModerado
LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (1)
HATs acetylate histones
MECANISMO DE DOENÇA

Fischer-Zirnsak progeroid syndrome

An autosomal recessive syndrome characterized by intrauterine growth retardation, congenital generalized lipodystrophy, and a progeroid appearance. Additional features include cataracts and a neonatal tooth.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Pituitária
64.0 TPM
Cerebelo
63.9 TPM
Cérebro - Hemisfério cerebelar
62.8 TPM
Ovário
61.1 TPM
Tireoide
59.0 TPM
OUTRAS DOENÇAS (1)
Fischer-Zirnsak progeroid syndrome
HGNC:HGNC:30632UniProt:O94864
LEMD2LEM domain-containing protein 2Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Nuclear lamina-associated inner nuclear membrane protein that is involved in nuclear structure organization, maintenance of nuclear envelope (NE) integrity and NE reformation after mitosis (PubMed:16339967, PubMed:17097643, PubMed:28242692, PubMed:32494070). Plays a role as transmembrane adapter for the endosomal sorting complexes required for transport (ESCRT), and is thereby involved in ESCRT-mediated NE reformation (PubMed:28242692, PubMed:32494070). Promotes ESCRT-mediated NE closure by recr

LOCALIZAÇÃO

Nucleus inner membraneNucleus envelopeCytoplasm, cytoskeleton, spindle

VIAS BIOLÓGICAS (4)
Sealing of the nuclear envelope (NE) by ESCRT-IIIInitiation of Nuclear Envelope (NE) ReformationNuclear Envelope BreakdownDepolymerization of the Nuclear Lamina
MECANISMO DE DOENÇA

Cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy

A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT46 can be associated with variable onset of a severe form of arrhythmic cardiomyopathy resulting in sudden cardiac death.

EXPRESSÃO TECIDUAL(Ubíquo)
Cerebelo
71.2 TPM
Cérebro - Hemisfério cerebelar
70.2 TPM
Cervix Endocervix
64.7 TPM
Útero
61.0 TPM
Fallopian Tube
60.9 TPM
OUTRAS DOENÇAS (4)
Marbach-Rustad progeroid syndromecataract 46 juvenile-onsetearly-onset posterior subcapsular cataracttotal early-onset cataract
HGNC:21244UniProt:Q8NC56
SLC25A24Mitochondrial adenyl nucleotide antiporter SLC25A24Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Electroneutral antiporter that mediates the transport of adenyl nucleotides through the inner mitochondrial membrane. Originally identified as an ATP-magnesium/inorganic phosphate antiporter, it also acts as a broad specificity adenyl nucleotide antiporter. By regulating the mitochondrial matrix adenyl nucleotide pool, could adapt to changing cellular energetic demands and indirectly regulate adenyl nucleotide-dependent metabolic pathways (PubMed:15123600, PubMed:22015608). In vitro, a low activ

LOCALIZAÇÃO

Mitochondrion inner membrane

MECANISMO DE DOENÇA

Fontaine progeroid syndrome

An autosomal dominant progeroid disorder characterized by prenatal and postnatal growth retardation, decreased subcutaneous fat tissue, wrinkled skin, an aged appearance since birth, an abnormal scalp hair pattern, sparse hair, hypoplastic distal phalanges with hypoplastic nails, a widely open anterior fontanel, facial dysmorphisms, and craniosynostosis. Early death is observed in some patients.

EXPRESSÃO TECIDUAL(Ubíquo)
Fibroblastos
32.6 TPM
Tecido adiposo
19.2 TPM
Pulmão
17.6 TPM
Cervix Endocervix
17.4 TPM
Intestino delgado
16.8 TPM
OUTRAS DOENÇAS (1)
Fontaine progeroid syndrome
HGNC:20662UniProt:Q6NUK1
POLD1DNA polymerase delta catalytic subunitDisease-causing germline mutation(s) inTolerante
FUNÇÃO

As the catalytic component of the trimeric (Pol-delta3 complex) and tetrameric DNA polymerase delta complexes (Pol-delta4 complex), plays a crucial role in high fidelity genome replication, including in lagging strand synthesis, and repair (PubMed:16510448, PubMed:19074196, PubMed:20334433, PubMed:24022480, PubMed:24035200, PubMed:31449058). Exhibits both DNA polymerase and 3'- to 5'-exonuclease activities (PubMed:16510448, PubMed:19074196, PubMed:20334433, PubMed:24022480, PubMed:24035200). Req

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (1)
Cytosolic iron-sulfur cluster assembly
MECANISMO DE DOENÇA

Colorectal cancer 10

A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
59.1 TPM
Testículo
30.1 TPM
Tireoide
22.1 TPM
Baço
21.6 TPM
Útero
20.2 TPM
OUTRAS DOENÇAS (5)
mandibular hypoplasia-deafness-progeroid syndromeimmunodeficiency 120Polymerase proofreading-related adenomatous polyposisfamilial colorectal cancer type X
HGNC:9175UniProt:P28340
WRNBifunctional 3'-5' exonuclease/ATP-dependent helicase WRNDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Multifunctional enzyme that has magnesium and ATP-dependent 3'-5' DNA-helicase activity on partially duplex substrates (PubMed:9224595, PubMed:9288107, PubMed:9611231). Also has 3'->5' exonuclease activity towards double-stranded (ds)DNA with a 5'-overhang (PubMed:11863428). Has no nuclease activity towards single-stranded (ss)DNA or blunt-ended dsDNA (PubMed:11863428). Helicase activity is most efficient with (d)ATP, but (d)CTP will substitute with reduced efficiency; strand displacement is enh

LOCALIZAÇÃO

Nucleus, nucleolusNucleusNucleus, nucleoplasmChromosome

VIAS BIOLÓGICAS (10)
Regulation of TP53 Activity through PhosphorylationG2/M DNA damage checkpointProcessing of DNA double-strand break endsPresynaptic phase of homologous DNA pairing and strand exchangeHDR through Single Strand Annealing (SSA)
MECANISMO DE DOENÇA

Werner syndrome

A rare autosomal recessive progeroid syndrome characterized by the premature onset of multiple age-related disorders, including atherosclerosis, cancer, non-insulin-dependent diabetes mellitus, ocular cataracts and osteoporosis. The major cause of death, at a median age of 47, is myocardial infarction.

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
19.4 TPM
Fibroblastos
17.0 TPM
Útero
15.8 TPM
Ovário
11.8 TPM
Nervo tibial
11.7 TPM
OUTRAS DOENÇAS (1)
Werner syndrome
HGNC:12791UniProt:Q14191

Variantes genéticas (ClinVar)

124 variantes patogênicas registradas no ClinVar.

🧬 MTX2: GRCh37/hg19 2q31.1-32.2(chr2:171436894-189531954)x1 ()
🧬 MTX2: NM_006554.5(MTX2):c.40+859G>T ()
🧬 MTX2: NM_006554.5(MTX2):c.136-1G>C ()
🧬 MTX2: NM_006554.5(MTX2):c.135+2T>C ()
🧬 MTX2: GRCh37/hg19 2q31.1-31.3(chr2:175143352-180999636)x1 ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 224 variantes classificadas pelo ClinVar.

112
112
Patogênica (50.0%)
VUS (50.0%)
VARIANTES MAIS SIGNIFICATIVAS
MTX2: NM_006554.5(MTX2):c.136-1G>C [Pathogenic]
LEMD2: NM_181336.4(LEMD2):c.414_420del (p.Ser138fs) [Pathogenic]
POLR3A: NM_007055.4(POLR3A):c.3716_3717del (p.His1239fs) [Likely pathogenic]
SUPT7L: NM_014860.3(SUPT7L):c.80G>A (p.Arg27Gln) [Pathogenic]
SUPT7L: NM_014860.3(SUPT7L):c.255_258dup (p.Asn87fs) [Pathogenic]

Vias biológicas (Reactome)

74 vias biológicas associadas aos genes desta condição.

Mitochondrial protein import Cristae formation HDR through Single Strand Annealing (SSA) Formation of Incision Complex in GG-NER Dual Incision in GG-NER Dual incision in TC-NER Fanconi Anemia Pathway Cytosolic sensors of pathogen-associated DNA RNA Polymerase III Chain Elongation RNA Polymerase III Transcription Termination RNA Polymerase III Abortive And Retractive Initiation RNA Polymerase III Transcription Initiation From Type 1 Promoter RNA Polymerase III Transcription Initiation From Type 2 Promoter RNA Polymerase III Transcription Initiation From Type 3 Promoter Integration of provirus 2-LTR circle formation Integration of viral DNA into host genomic DNA Autointegration results in viral DNA circles APOBEC3G mediated resistance to HIV-1 infection Vpr-mediated nuclear import of PICs Nuclear Envelope Breakdown Initiation of Nuclear Envelope (NE) Reformation Degradation of the extracellular matrix Elastic fibre formation Molecules associated with elastic fibres Integrin cell surface interactions TGF-beta receptor signaling activates SMADs Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation Meiotic synapsis Breakdown of the nuclear lamina XBP1(S) activates chaperone genes Depolymerization of the Nuclear Lamina Signaling by BRAF and RAF1 fusions Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models mRNA Splicing - Major Pathway ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression B-WICH complex positively regulates rRNA expression Formation of TC-NER Pre-Incision Complex Transcription-Coupled Nucleotide Excision Repair (TC-NER) Gap-filling DNA repair synthesis and ligation in TC-NER RNA Polymerase I Transcription Initiation Neddylation PINK1-PRKN Mediated Mitophagy HATs acetylate histones Sealing of the nuclear envelope (NE) by ESCRT-III Recognition of DNA damage by PCNA-containing replication complex Polymerase switching on the C-strand of the telomere Processive synthesis on the C-strand of the telomere Telomere C-strand (Lagging Strand) Synthesis Removal of the Flap Intermediate from the C-strand Cytosolic iron-sulfur cluster assembly Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) PCNA-Dependent Long Patch Base Excision Repair Termination of translesion DNA synthesis HDR through Homologous Recombination (HRR) Gap-filling DNA repair synthesis and ligation in GG-NER Polymerase switching Removal of the Flap Intermediate Processive synthesis on the lagging strand SUMOylation of DNA damage response and repair proteins Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) Resolution of D-loop Structures through Holliday Junction Intermediates Homologous DNA Pairing and Strand Exchange Processing of DNA double-strand break ends Presynaptic phase of homologous DNA pairing and strand exchange Regulation of TP53 Activity through Phosphorylation G2/M DNA damage checkpoint Defective homologous recombination repair (HRR) due to BRCA1 loss of function Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function Impaired BRCA2 binding to RAD51 Impaired BRCA2 binding to PALB2

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

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Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome progeroide

🗺️

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Ensaios clínicos abertos e novidades científicas recentes

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Publicações mais relevantes

Timeline de publicações
163 papers (10 anos)
#1

IVNS1ABP mutation drives cellular senescence in newly identified progeroid neuropathy.

Nature communications2026 Mar 19

We identified a new progeroid syndrome with severe neuropathy and intellectual deficits but its underlying cellular and molecular mechanism is unknown. Exome sequencing revealed a homozygous mutation in the IVNS1ABP gene, which encodes IVNS1ABP, an influenza virus non-structural protein-1 binding protein. To investigate disease mechanisms, we generated isogenic induced pluripotent stem cells (iPSCs) from patient fibroblasts and differentiated them into neural progenitor cells (NPCs). Mutant IVNS1ABP fibroblasts, iPSCs, and NPCs exhibited defective cytokinesis, increased DNA damage, and premature cellular senescence. Consistent with these findings, cerebral organoids showed early differentiation of NPCs into neurons. Molecular profiling as well as biochemical and cellular analysis revealed altered binding of mutant IVNS1ABP to actin / actin-associated proteins and dysregulated actin dynamics during cytokinesis. Taken together, we propose that mutant IVNS1ABP dysregulates actin polymerization and organization which is at least partly responsible for the cellular senescence phenotypes in this progeroid neuropathy.

#2

The tight bond between Fanconi anemia and aging.

Frontiers in aging2026

Fanconi anemia (FA) is a rare genetic disorder characterized by genomic instability, bone marrow failure, physical abnormalities, and increased cancer susceptibility. Growing evidence suggests that. FA may represent a progeroid syndrome, displaying features of accelerated aging at the cellular and molecular levels. This review examines the cellular and molecular characteristics of FA in the context of the established hallmarks of aging, supporting the hypothesis that FA constitutes a premature aging disorder. The hallmarks of aging, classified as primary, antagonistic, and integrative, are highly interconnected and mutually influential. FA cells exhibit primary hallmarks such as; genomic instability, telomere attrition, epigenetic alterations, and dysregulated autophagy. Antagonistic hallmarks, including cellular senescence, mitochondrial dysfunction, and altered; nutrient sensing, are also evident. Integrative hallmarks, such as stem cell exhaustion, altered; intercellular communication, chronic inflammation, and dysbiosis, arise as downstream consequences of the accumulated primary and antagonistic damage. The presence of these hallmarks, together with the early onset of clinical manifestations such as bone marrow failure, cancer, and premature menopause, strongly supports the notion that FA involves accelerated aging. Although patients with FA lacks the overt physical features typical of other progeroid syndromes, its clinical, cellular, and molecular abnormalities demonstrate a strong association with age-related decline, making FA a valuable model of premature aging. Despite limited experimental evidence directly demonstrating accelerated aging, this review highlights the molecular mechanisms linking FA and aging and identifies understudied areas that warrant further investigation.

#3

Novel POLR3A Gene Mutation Results in Wiedemann-Rautenstrauch Syndrome With Striking Cutis Laxa and Myelofibrosis.

The Journal of dermatology2026 Feb

Wiedemann-Rautenstrauch syndrome is an extremely rare autosomal recessive progeroid disorder closely linked to mutations in POLR3A. Here, we report a case of a 4-year-old female patient carrying a novel compound-heterozygous variant in POLR3A. In addition to the classic Wiedemann-Rautenstrauch syndrome features-progressive diffuse alopecia, growth retardation, and abnormal white matter development-the patient presented with severe anemia and skin laxity, phenotypes not previously described in Wiedemann-Rautenstrauch syndrome. RT-qPCR analysis of skin tissue demonstrated a significant downregulation of POLR3A mRNA expression (p < 0.01). To our knowledge, this is the first report implicating an intronic POLR3A variant in Wiedemann-Rautenstrauch syndrome in the Chinese population, expanding both the mutational and phenotypic spectra of the disorder and underscoring its clinical heterogeneity.

#4

Founder Pathogenic Variant in LMNA with Diverse Phenotypic Manifestations in Mandibuloacral Dysplasia: Insights from a Turkish Cohort.

Journal of clinical research in pediatric endocrinology2026 Mar 13

Mandibuloacral dysplasia (MAD) is a rare genetic disorder characterized by distinctive skeletal abnormalities, metabolic issues, and skin changes, often linked to pathogenic variants in the LMNA gene, which encodes lamin A/C. This study investigates a specific founder mutation within a Turkish cohort and explores its impact on phenotypic expressivity. We conducted a comprehensive analysis involving genetic testing for LMNA variants in patients diagnosed with MAD. Clinical evaluations documented a wide range of phenotypic features, including facial dysmorphism, skeletal anomalies, and metabolic abnormalities. We also collected family histories to assess inheritance patterns and potential environmental influences. Our findings identified a common founder mutation in the LMNA gene among the cohort, which was present in a significant percentage of participants. Notably, phenotypic expressivity varied significantly, with some individuals exhibiting classic MAD features, while others showed atypical manifestations, such as additional endocrine disorders and variable severity of skeletal anomalies. This variability underscores the complexity of the genotype-phenotype relationship. This study highlights the significance of the founder mutation in LMNA and its diverse phenotypic outcomes in MAD. Our results contribute to the understanding of how genetic mutations can lead to a spectrum of clinical presentations, emphasizing the necessity for personalized clinical approaches in managing this condition. Further research is warranted to elucidate the underlying mechanisms of phenotypic variability and to improve diagnostic and therapeutic strategies.

#5

Fontaine progeroid syndrome into early adolescence: a case report.

Clinical dysmorphology2026 Apr 01

Publicações recentes

Ver todas no PubMed

📚 EuropePMC112 artigos no totalmostrando 177

2026

IVNS1ABP mutation drives cellular senescence in newly identified progeroid neuropathy.

Nature communications
2026

The tight bond between Fanconi anemia and aging.

Frontiers in aging
2026

Fontaine progeroid syndrome into early adolescence: a case report.

Clinical dysmorphology
2026

Novel POLR3A Gene Mutation Results in Wiedemann-Rautenstrauch Syndrome With Striking Cutis Laxa and Myelofibrosis.

The Journal of dermatology
2025

Growth Hormone Response in a Child With a Homozygous TOMM7 Mutation: Novel Therapeutic Insights.

The American journal of case reports
2025

Progeroid Syndrome with Signs of Autophagy Dysfunction in the Naked Mole Rat (Heterocephalus glaber).

Biochemistry. Biokhimiia
2025

Severe cardiac valvular calcification in two Chinese brothers with mandibuloacral dysplasia type A: a case report.

Frontiers in cardiovascular medicine
2025

Fontaine progeroid syndrome with neonatal mitochondrial disease.

Human genome variation
2025

POLR3A mutations cause nucleolus abnormalities and aberrant telomerase RNA metabolism in induced pluripotent stem cells from Wiedemann-Rautenstrauch premature aging syndrome patient.

Biogerontology
2025

Clinical and molecular insights into Wiedemann-Rautenstrauch syndrome: A case report and genetic analysis of the c.2707G>A variant in the POLR3A gene.

Experimental gerontology
2025

Inherited Lipodystrophy Associated With POLD1 and CAVIN1 Mutations: Two Cases From the Indian Subcontinent.

Cureus
2025

Progeroid features in a patient with Malouf syndrome due to a rare LMNA variant: a case report and review of the literature.

Archives of endocrinology and metabolism
2025

Insights Into Cockayne Syndrome Type B: What Underlies Its Pathogenesis?

Aging cell
2025

A real-world pharmacovigilance assessment and literature review of lymphoma development in lipodystrophy.

Frontiers in endocrinology
2025

Nicotinamide Riboside Supplementation Benefits in Patients With Werner Syndrome: A Double-Blind Randomized Crossover Placebo-Controlled Trial.

Aging cell
2026

Founder Pathogenic Variant in LMNA with Diverse Phenotypic Manifestations in Mandibuloacral Dysplasia: Insights from a Turkish Cohort.

Journal of clinical research in pediatric endocrinology
2025

CEBPA-associated familial acute myeloid leukemia mimicking Werner syndrome: a case report.

Frontiers in genetics
2025

A Case of Penttinen Syndrome With Radiographic Acroosteolysis From Age 3 Years.

American journal of medical genetics. Part A
2025

A Case of Mandibuloacral Dysplasia Progeroid Syndrome Presented as In Utero Growth Restriction.

Journal of medical ultrasound
2025

Circular RNA Telomerase Reverses Endothelial Senescence in Progeria.

Aging cell
2025

For early diagnosis of young patients with Werner syndrome: Indication for genetic testing.

Geriatrics &amp; gerontology international
2024

Less frequent skin ulcers among patients with Werner syndrome treated with pioglitazone: findings from the Japanese Werner Syndrome Registry.

Aging
2024

Supplementation with nicotinamide limits accelerated aging in affected individuals with cockayne syndrome and restores antioxidant defenses.

Aging
2025

The Ercc1-/Δ mouse model of XFE progeroid syndrome undergoes accelerated retinal degeneration.

Aging cell
2024

Disorganized chromatin hierarchy and stem cell aging in a male patient of atypical laminopathy-based progeria mandibuloacral dysplasia type A.

Nature communications
2024

Validation of metaxin-2 deficient C. elegans as a model for MandibuloAcral Dysplasia associated to mtx-2 (MADaM) syndrome.

Communications biology
2024

Anesthetic management of a patient with mandibular hypoplasia, deafness, progeroid features, lipodystrophy syndrome: a case report.

JA clinical reports
2025

Bi-Allelic Splicing Variant, c.153-2A > C in TOMM7 Is Associated With Leigh Syndrome.

American journal of medical genetics. Part A
2024

Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes.

International journal of molecular sciences
2024

A novel role for CSA in the regulation of nuclear envelope integrity: uncovering a non-canonical function.

Life science alliance
2024

James German and the Quest to Understand Human RECQ Helicase Deficiencies.

Cells
2024

Prenatal diagnosis of SLC25A24 Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicism.

Birth defects research
2023

[Wiedemann-Rautenstrauch syndrome. The first description of a clinical case in the Russian Federation].

Problemy endokrinologii
2024

LEMD2-associated progeroid syndrome: Expanding the phenotype of the nuclear envelopathy caused by a defect in LEMD2 gene.

Aging cell
2024

Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review.

Frontiers in endocrinology
2024

Atypical Progeria Primarily Manifesting as Premature Cardiac Valvular Disease Segregates with LMNA-Gene Variants.

Journal of cardiovascular development and disease
2024

p53 regulates diverse tissue-specific outcomes to endogenous DNA damage in mice.

Nature communications
2024

Immunity in the Progeroid Model of Cockayne Syndrome: Biomarkers of Pathological Aging.

Cells
2024

The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation.

Genes
2024

Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A.

Molecular genetics &amp; genomic medicine
2024

A Novel Variant in the WRN Gene Detected in a Case of Early-Onset Severe Insulin Resistance Displaying Some but Not All Hallmarks of Progeroid Werner Syndrome.

Diabetes care
2024

Nuclear Abnormalities in LMNA p.(Glu2Lys) Variant Segregating with LMNA-Associated Cardiocutaneous Progeria Syndrome.

Genes
2023

The farnesyl transferase inhibitor (FTI) lonafarnib improves nuclear morphology in ZMPSTE24-deficient fibroblasts from patients with the progeroid disorder MAD-B.

Nucleus (Austin, Tex.)
2023

Flame-like Calcifications in Werner Syndrome.

JCEM case reports
2024

The third case of Marbach-Rustad progeroid syndrome caused by a de novo LEMD2 variant.

Clinical genetics
2023

Genome-wide CRISPR activation screening in senescent cells reveals SOX5 as a driver and therapeutic target of rejuvenation.

Cell stem cell
2024

Senescence, regulators of alternative splicing and effects of trametinib treatment in progeroid syndromes.

GeroScience
2024

Caspase 5 depletion is linked to hyper-inflammatory response and progeroid syndrome.

GeroScience
2023

Insights into aging from progeroid syndrome epigenetics.

Aging
2023

Dose imbalance of DYRK1A kinase causes systemic progeroid status in Down syndrome by increasing the un-repaired DNA damage and reducing LaminB1 levels.

EBioMedicine
2023

A subtype of laminopathies: Generalized lipodystrophy-associated progeroid syndrome caused by LMNA gene c.29C>T mutation.

Journal of diabetes investigation
2023

Performance evaluation of CMIP6 climate models for selecting a suitable GCM for future precipitation at different places of Tamil Nadu.

Environmental monitoring and assessment
2023

Multi-omic analysis of mandibuloacral dysplasia type A patient iPSC-derived MSC senescence reveals miR-311 as a novel biomarker for MSC senescence.

Human molecular genetics
2023

A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.

American journal of medical genetics. Part A
2023

Different GCMs yet similar outcome: predicting the habitat distribution of Shorea robusta C.F. Gaertn. in the Indian Himalayas using CMIP5 and CMIP6 climate models.

Environmental monitoring and assessment
2023

Spectrum of Pediatric to Early Adulthood POLR3A-Associated Movement Disorders.

Movement disorders clinical practice
2023

Case report: Variants in the ERCC4 gene as a rare cause of cerebellar ataxia with chorea.

Frontiers in genetics
2023

From cue to meaning: The involvement of POLD1 gene in DNA replication, repair and aging.

Mechanisms of ageing and development
2023

A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing.

EMBO molecular medicine
2023

Progeroid syndrome of De Barsy - a case report and review of ophthalmic literature.

Ophthalmic genetics
2022

Optical coherence tomography findings in three patients with Werner syndrome.

BMC ophthalmology
2022

Adult progeria: a new mutation in the WRN gene.

BMJ case reports
2022

Case report: Focal segmental glomerulosclerosis in a pediatric atypical progeroid syndrome.

Frontiers in pediatrics
2022

Neuropathology of classic myotonic dystrophy type 1 is characterized by both early initiation of primary age-related tauopathy of the hippocampus and unique 3-repeat tauopathy of the brainstem.

Journal of neuropathology and experimental neurology
2022

Autosomal recessive progeroid syndrome due to homozygosity for a TOMM7 variant.

The Journal of clinical investigation
2023

A novel MTX2 gene splice site variant resulting in exon skipping, causing the recently described mandibuloacral dysplasia progeroid syndrome.

American journal of medical genetics. Part A
2022

A Case of Wiedemann-Rautenstrauch Syndrome With Fatal Hyperkalemic Renal Faliure.

Cureus
2022

Fontaine progeroid syndrome-A case report.

Clinical case reports
2022

Asprosin, a C-Terminal Cleavage Product of Fibrillin 1 Encoded by the FBN1 Gene, in Health and Disease.

Molecular syndromology
2022

Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases.

Journal of medical genetics
2022

Severe aortic stenosis during leptin replacement therapy in a patient with generalized lipodystrophy-associated progeroid syndrome due to an LMNA variant: A case report.

Journal of diabetes investigation
2022

Successful surgical aortic valve replacement in a patient with progeria.

Interactive cardiovascular and thoracic surgery
2022

Post-acute cardiac complications following SARS-CoV-2 infection in partial lipodystrophy due to LMNA gene p.R349W mutation.

Journal of endocrinological investigation
2022

A high prevalence of myeloid malignancies in progeria with Werner syndrome is associated with p53 insufficiency.

Experimental hematology
2022

Werner syndrome in a Lebanese family.

American journal of medical genetics. Part A
2021

Biallelic CAV1 null variants induce congenital generalized lipodystrophy with achalasia.

European journal of endocrinology
2022

A novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies.

American journal of medical genetics. Part A
2022

Werner syndrome presenting as early-onset diabetes: A case report.

Journal of diabetes investigation
2021

[Progeroid syndrome: A rare model of accelerated aging in human].

Nihon Ronen Igakkai zasshi. Japanese journal of geriatrics
2021

The human ribosomal DNA array is composed of highly homogenized tandem clusters.

Genome research
2021

Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome.

Italian journal of pediatrics
2021

Atypical progeroid syndrome (p.E262K LMNA mutation): a rare cause of short stature and osteoporosis.

Endocrinology, diabetes &amp; metabolism case reports
2021

Wiedemann-Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A.

American journal of medical genetics. Part A
2021

Increased insulin sensitivity and diminished pancreatic beta-cell function in DNA repair deficient Ercc1d/- mice.

Metabolism: clinical and experimental
2020

Cutaneous and metabolic defects associated with nuclear abnormalities in a transgenic mouse model expressing R527H lamin A mutation causing mandibuloacral dysplasia type A (MADA) syndrome.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
2021

SMAD4 mutations and cross-talk between TGF-β/IFNγ signaling accelerate rates of DNA damage and cellular senescence, resulting in a segmental progeroid syndrome-the Myhre syndrome.

GeroScience
2021

Evolving clinical manifestations of mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome: From infancy to adulthood in a 31-year-old woman.

American journal of medical genetics. Part A
2020

The Ercc1-/Δ mouse model of accelerated senescence and aging for identification and testing of novel senotherapeutic interventions.

Aging
2020

Neurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by POLR3A mutations.

Neurology. Genetics
2021

Severe metabolic disorders coexisting with Werner syndrome: a case report.

Endocrine journal
2020

Nucleolar disruption, activation of P53 and premature senescence in POLR3A-mutated Wiedemann-Rautenstrauch syndrome fibroblasts.

Mechanisms of ageing and development
2020

Novel LMNA mutations in Greek and Myanmar Patients with Progeroid Features and Cardiac Manifestations.

Aging pathobiology and therapeutics
2020

Multisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to an LMNA p.R349W Variant.

Journal of the Endocrine Society
2020

Atypical Progeroid Syndrome and Partial Lipodystrophy Due to LMNA Gene p.R349W Mutation.

Journal of the Endocrine Society
2020

A Novel Syndrome With Short Stature, Mandibular Hypoplasia, and Osteoporosis May Be Associated With a PRRT3 Variant.

Journal of the Endocrine Society
2020

Pathophysiology of premature aging characteristics in Mendelian progeroid disorders.

European journal of medical genetics
2020

Mitochondrial Dysfunction, Oxidative Stress, and Neuroinflammation: Intertwined Roads to Neurodegeneration.

Antioxidants (Basel, Switzerland)
2020

Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann-Rautenstrauch syndrome.

European journal of human genetics : EJHG
2020

Epigenetic deregulation of lamina-associated domains in Hutchinson-Gilford progeria syndrome.

Genome medicine
2020

Is Gorlin-Chaudhry-Moss syndrome associated with aortopathy?

European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery
2020

Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.

Biomolecules
2020

Fibrillin-1 and fibrillin-1-derived asprosin in adipose tissue function and metabolic disorders.

Journal of cell communication and signaling
2020

Looking at New Unexpected Disease Targets in LMNA-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice.

Cells
2020

Energy Regulation Mechanism and Therapeutic Potential of Asprosin.

Diabetes
2019

Fibrodysplasia Ossificans Progressiva (FOP): A Segmental Progeroid Syndrome.

Frontiers in endocrinology
2020

Recurrent Femoral Fractures in a Boy with an Atypical Progeroid Syndrome: A Case Report.

Calcified tissue international
2019

A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up.

BMC medical genetics
2020

Inactivating Mutations in Exonuclease and Polymerase Domains in DNA Polymerase Delta Alter Sensitivities to Inhibitors of dNTP Synthesis.

DNA and cell biology
2020

A case of generalized lipodystrophy-associated progeroid syndrome treated by leptin replacement with short and long-term monitoring of the metabolic and endocrine profiles.

Endocrine journal
2020

A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL.

European journal of human genetics : EJHG
2019

ATP-based therapy prevents vascular calcification and extends longevity in a mouse model of Hutchinson-Gilford progeria syndrome.

Proceedings of the National Academy of Sciences of the United States of America
2019

Diffuse, mottled hyperpigmentation and mutations in LMNA gene in a 5-year-old boy, his mother, and his grandmother: Atypical progeroid syndrome.

Pediatric dermatology
2019

Growing Old Too Fast: A Rare Case of Werner Syndrome.

Cureus
2019

Diabetes mellitus coexisted with progeria: a case report of atypical Werner syndrome with novel LMNA mutations and literature review.

Endocrine journal
2019

Epigenetic signatures of Werner syndrome occur early in life and are distinct from normal epigenetic aging processes.

Aging cell
2019

Special-needs patients in pediatric dentistry: Progeroid syndrome. A case of dental management and oral rehabilitation.

Pediatric reports
2019

The Shape of Mitochondrial Dysfunction in Down Syndrome.

Developmental neurobiology
2019

Accelerated bio-cognitive aging in Down syndrome: State of the art and possible deceleration strategies.

Aging cell
2019

POLR3A Identified as Major Locus for Autosomal Recessive Wiedemann-Rautenstrauch Syndrome: New findings show "compelling evidence" that POLR3A mutations underlie the etiology of autosomal-recessive WRS.

American journal of medical genetics. Part A
2018

A Transcriptome Study of Progeroid Neurocutaneous Syndrome Reveals POSTN As a New Element in Proline Metabolic Disorder.

Aging and disease
2018

Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.

Human genetics
2018

Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.

American journal of human genetics
2018

CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures.

Molecular genetics &amp; genomic medicine
2018

A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24.

American journal of medical genetics. Part A
2018

Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.

Journal of medical genetics
2018

Modeling Alzheimer's disease in progeria mice. An age-related concept.

Pathobiology of aging &amp; age related diseases
2018

Fisetin is a senotherapeutic that extends health and lifespan.

EBioMedicine
2018

Biallelic WRN Mutations in Newly Identified Japanese Werner Syndrome Patients.

Molecular syndromology
2018

A De Novo POLD1 Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome.

Journal of investigative medicine high impact case reports
2018

Involvement of the nuclear structural proteins in aging-related responses of human skin to the environmental stress.

Clinical, cosmetic and investigational dermatology
2019

Werner syndrome: a rare mutation.

Aging clinical and experimental research
2018

Outpatient Interventions That May Enhance the Care of a Patient with Co-existing Moyamoya and Down Syndromes.

Cureus
2018

RECQ helicase disease and related progeroid syndromes: RECQ2018 meeting.

Mechanisms of ageing and development
2018

The Continuum of Aging and Age-Related Diseases: Common Mechanisms but Different Rates.

Frontiers in medicine
2018

Potential association of LMNA-associated generalized lipodystrophy with juvenile dermatomyositis.

Clinical diabetes and endocrinology
2018

A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation.

The Journal of clinical endocrinology and metabolism
2018

Definitive diagnosis of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome caused by a recurrent de novo mutation in the POLD1 gene.

Endocrine journal
2018

ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes.

Human mutation
2017

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.

American journal of human genetics
2017

Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A.

Scientific reports
2017

Identification of HSP90 inhibitors as a novel class of senolytics.

Nature communications
2017

Dysfunction of the MDM2/p53 axis is linked to premature aging.

The Journal of clinical investigation
2017

Uncommon cause of cirrhosis-A case of Werner syndrome with a novel WRN mutation.

Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology
2017

Werner syndrome: a model for sarcopenia due to accelerated aging.

Aging
2017

Wiedemann-Rautenstrauch Syndrome With Bilateral Tarsal Kink: Three Sutures for Correction.

The Journal of craniofacial surgery
2017

A novel splice-site mutation of WRN (c.IVS28+2T>C) identified in a consanguineous family with Werner Syndrome.

Molecular medicine reports
2017

Recent Trends in WRN Gene Mutation Patterns in Individuals with Werner Syndrome.

Journal of the American Geriatrics Society
2017

Homozygosity for the WRN Helicase-Inactivating Variant, R834C, does not confer a Werner syndrome clinical phenotype.

Scientific reports
2017

Expansion of myeloid-derived suppressor cells with aging in the bone marrow of mice through a NF-κB-dependent mechanism.

Aging cell
2017

Accurate Detection of Dysmorphic Nuclei Using Dynamic Programming and Supervised Classification.

PloS one
2017

Progeroid syndrome patients with ZMPSTE24 deficiency could benefit when treated with rapamycin and dimethylsulfoxide.

Cold Spring Harbor molecular case studies
2016

SPRTN is a mammalian DNA-binding metalloprotease that resolves DNA-protein crosslinks.

eLife
2017

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.

Human mutation
2016

Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.

American journal of medical genetics. Part A
2016

Increased susceptibility to oxidative stress- and ultraviolet A-induced apoptosis in fibroblasts in atypical progeroid syndrome/atypical Werner syndrome with LMNA mutation.

Experimental dermatology
2016

Defective DNA repair increases susceptibility to senescence through extension of Chk1-mediated G2 checkpoint activation.

Scientific reports
2016

Absence of premature senescence in Werner's syndrome keratinocytes.

Experimental gerontology
2016

Lamin Mutations Accelerate Aging via Defective Export of Mitochondrial mRNAs through Nuclear Envelope Budding.

Current biology : CB
2017

Retinal features in Mulvihill-Smith syndrome.

Ophthalmic genetics
2016

A Case of Novel Lamin A/C Mutation Manifesting as Atypical Progeroid Syndrome and Cardiomyopathy.

The Canadian journal of cardiology
2016

Asprosin, a Fasting-Induced Glucogenic Protein Hormone.

Cell
2017

Werner syndrome: Clinical features, pathogenesis and potential therapeutic interventions.

Ageing research reviews
2016

The Werner syndrome RECQ helicase targets G4 DNA in human cells to modulate transcription.

Human molecular genetics
2016

Potential therapeutic effects of the MTOR inhibitors for preventing ageing and progeria-related disorders.

British journal of clinical pharmacology
2015

Ophthalmic manifestations in a case of Wiedemann-Rautenstrauch syndrome.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2016

The effect of RO3201195 and a pyrazolyl ketone P38 MAPK inhibitor library on the proliferation of Werner syndrome cells.

Organic &amp; biomolecular chemistry
2015

Anesthesia in an Aging Infant: Neonatal Progeroid Syndrome.

A &amp; A case reports
2015

Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies.

Metabolism: clinical and experimental
2015

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.

American journal of human genetics
2015

A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome.

Human mutation
2015

Muscle wasting in myotonic dystrophies: a model of premature aging.

Frontiers in aging neuroscience
2015

A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome.

PloS one
2015

POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.

Human mutation
2015

Genomic diagnosis by whole genome sequencing in a Korean family with atypical progeroid syndrome.

The Journal of dermatology
2015

Barrier to Autointegration Factor (BANF1): interwoven roles in nuclear structure, genome integrity, innate immunity, stress responses and progeria.

Current opinion in cell biology
2015

Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome.

American journal of medical genetics. Part A
2015

"...Rewritten in the skin": clues to skin biology and aging from inherited disease.

The Journal of investigative dermatology

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Doenças relacionadas

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. IVNS1ABP mutation drives cellular senescence in newly identified progeroid neuropathy.
    Nature communications· 2026· PMID 41857046mais citado
  2. The tight bond between Fanconi anemia and aging.
    Frontiers in aging· 2026· PMID 41816542mais citado
  3. Novel POLR3A Gene Mutation Results in Wiedemann-Rautenstrauch Syndrome With Striking Cutis Laxa and Myelofibrosis.
    The Journal of dermatology· 2026· PMID 41549341mais citado
  4. Founder Pathogenic Variant in LMNA with Diverse Phenotypic Manifestations in Mandibuloacral Dysplasia: Insights from a Turkish Cohort.
    Journal of clinical research in pediatric endocrinology· 2026· PMID 40459373mais citado
  5. Fontaine progeroid syndrome into early adolescence: a case report.
    Clinical dysmorphology· 2026· PMID 41649150mais citado
  6. Growth Hormone Response in a Child With a Homozygous TOMM7 Mutation: Novel Therapeutic Insights.
    Am J Case Rep· 2025· PMID 41460760recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:139033(Orphanet)
  2. MONDO:0015333(MONDO)
  3. GARD:19906(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Busca completa no PubMed(PubMed)
  6. Q6139748(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

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