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.
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.
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 240 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 679 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
18 genes identificados com associação a esta condição.
Involved in transport of proteins into the mitochondrion
Mitochondrion outer membraneMitochondrion
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.
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
NucleusCytoplasm
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.
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
Endoplasmic reticulum membraneNucleus inner membraneEarly endosome membraneLate endosome membrane
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.
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
NucleusCytoplasm, cytosol
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.
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
NucleusChromosomeNucleus envelopeCytoplasm
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.
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
SecretedSecreted, extracellular space, extracellular matrix
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.
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:
Nucleus laminaNucleus envelopeNucleus, nucleoplasmNucleus matrixNucleus speckle
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.
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
Nucleus
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.
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,
NucleusChromosome
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.
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
NucleusChromosomeNucleus matrix
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.
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)
Mitochondrion outer membrane
Garg-Mishra progeroid syndrome
An autosomal recessive syndrome characterized by a progeroid appearance, severe dwarfism, mandibular hypoplasia, hyperopia, and partial lipodystrophy.
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
NucleusChromosome
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.
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
Nucleus
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.
Nucleus
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.
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
Nucleus inner membraneNucleus envelopeCytoplasm, cytoskeleton, spindle
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.
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
Mitochondrion inner membrane
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.
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
Nucleus
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.
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
Nucleus, nucleolusNucleusNucleus, nucleoplasmChromosome
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.
Variantes genéticas (ClinVar)
124 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 224 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
74 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome progeroide
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
IVNS1ABP mutation drives cellular senescence in newly identified progeroid neuropathy.
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.
The tight bond between Fanconi anemia and aging.
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.
Novel POLR3A Gene Mutation Results in Wiedemann-Rautenstrauch Syndrome With Striking Cutis Laxa and Myelofibrosis.
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.
Founder Pathogenic Variant in LMNA with Diverse Phenotypic Manifestations in Mandibuloacral Dysplasia: Insights from a Turkish Cohort.
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.
Fontaine progeroid syndrome into early adolescence: a case report.
Publicações recentes
IVNS1ABP mutation drives cellular senescence in newly identified progeroid neuropathy.
The tight bond between Fanconi anemia and aging.
Fontaine progeroid syndrome into early adolescence: a case report.
Novel POLR3A Gene Mutation Results in Wiedemann-Rautenstrauch Syndrome With Striking Cutis Laxa and Myelofibrosis.
Growth Hormone Response in a Child With a Homozygous TOMM7 Mutation: Novel Therapeutic Insights.
📚 EuropePMC112 artigos no totalmostrando 177
IVNS1ABP mutation drives cellular senescence in newly identified progeroid neuropathy.
Nature communicationsThe tight bond between Fanconi anemia and aging.
Frontiers in agingFontaine progeroid syndrome into early adolescence: a case report.
Clinical dysmorphologyNovel POLR3A Gene Mutation Results in Wiedemann-Rautenstrauch Syndrome With Striking Cutis Laxa and Myelofibrosis.
The Journal of dermatologyGrowth Hormone Response in a Child With a Homozygous TOMM7 Mutation: Novel Therapeutic Insights.
The American journal of case reportsProgeroid Syndrome with Signs of Autophagy Dysfunction in the Naked Mole Rat (Heterocephalus glaber).
Biochemistry. BiokhimiiaSevere cardiac valvular calcification in two Chinese brothers with mandibuloacral dysplasia type A: a case report.
Frontiers in cardiovascular medicineFontaine progeroid syndrome with neonatal mitochondrial disease.
Human genome variationPOLR3A mutations cause nucleolus abnormalities and aberrant telomerase RNA metabolism in induced pluripotent stem cells from Wiedemann-Rautenstrauch premature aging syndrome patient.
BiogerontologyClinical and molecular insights into Wiedemann-Rautenstrauch syndrome: A case report and genetic analysis of the c.2707G>A variant in the POLR3A gene.
Experimental gerontologyInherited Lipodystrophy Associated With POLD1 and CAVIN1 Mutations: Two Cases From the Indian Subcontinent.
CureusProgeroid 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 metabolismInsights Into Cockayne Syndrome Type B: What Underlies Its Pathogenesis?
Aging cellA real-world pharmacovigilance assessment and literature review of lymphoma development in lipodystrophy.
Frontiers in endocrinologyNicotinamide Riboside Supplementation Benefits in Patients With Werner Syndrome: A Double-Blind Randomized Crossover Placebo-Controlled Trial.
Aging cellFounder Pathogenic Variant in LMNA with Diverse Phenotypic Manifestations in Mandibuloacral Dysplasia: Insights from a Turkish Cohort.
Journal of clinical research in pediatric endocrinologyCEBPA-associated familial acute myeloid leukemia mimicking Werner syndrome: a case report.
Frontiers in geneticsA Case of Penttinen Syndrome With Radiographic Acroosteolysis From Age 3 Years.
American journal of medical genetics. Part AA Case of Mandibuloacral Dysplasia Progeroid Syndrome Presented as In Utero Growth Restriction.
Journal of medical ultrasoundCircular RNA Telomerase Reverses Endothelial Senescence in Progeria.
Aging cellFor early diagnosis of young patients with Werner syndrome: Indication for genetic testing.
Geriatrics & gerontology internationalLess frequent skin ulcers among patients with Werner syndrome treated with pioglitazone: findings from the Japanese Werner Syndrome Registry.
AgingSupplementation with nicotinamide limits accelerated aging in affected individuals with cockayne syndrome and restores antioxidant defenses.
AgingThe Ercc1-/Δ mouse model of XFE progeroid syndrome undergoes accelerated retinal degeneration.
Aging cellDisorganized chromatin hierarchy and stem cell aging in a male patient of atypical laminopathy-based progeria mandibuloacral dysplasia type A.
Nature communicationsValidation of metaxin-2 deficient C. elegans as a model for MandibuloAcral Dysplasia associated to mtx-2 (MADaM) syndrome.
Communications biologyAnesthetic management of a patient with mandibular hypoplasia, deafness, progeroid features, lipodystrophy syndrome: a case report.
JA clinical reportsBi-Allelic Splicing Variant, c.153-2A > C in TOMM7 Is Associated With Leigh Syndrome.
American journal of medical genetics. Part ALipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes.
International journal of molecular sciencesA novel role for CSA in the regulation of nuclear envelope integrity: uncovering a non-canonical function.
Life science allianceJames German and the Quest to Understand Human RECQ Helicase Deficiencies.
CellsPrenatal diagnosis of SLC25A24 Fontaine progeroid syndrome: description of the fetal phenotype, genotype and detection of parental mosaicism.
Birth defects research[Wiedemann-Rautenstrauch syndrome. The first description of a clinical case in the Russian Federation].
Problemy endokrinologiiLEMD2-associated progeroid syndrome: Expanding the phenotype of the nuclear envelopathy caused by a defect in LEMD2 gene.
Aging cellCase report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review.
Frontiers in endocrinologyAtypical Progeria Primarily Manifesting as Premature Cardiac Valvular Disease Segregates with LMNA-Gene Variants.
Journal of cardiovascular development and diseasep53 regulates diverse tissue-specific outcomes to endogenous DNA damage in mice.
Nature communicationsImmunity in the Progeroid Model of Cockayne Syndrome: Biomarkers of Pathological Aging.
CellsThe Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation.
GenesFurther delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A.
Molecular genetics & genomic medicineA 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 careNuclear Abnormalities in LMNA p.(Glu2Lys) Variant Segregating with LMNA-Associated Cardiocutaneous Progeria Syndrome.
GenesThe farnesyl transferase inhibitor (FTI) lonafarnib improves nuclear morphology in ZMPSTE24-deficient fibroblasts from patients with the progeroid disorder MAD-B.
Nucleus (Austin, Tex.)Flame-like Calcifications in Werner Syndrome.
JCEM case reportsThe third case of Marbach-Rustad progeroid syndrome caused by a de novo LEMD2 variant.
Clinical geneticsGenome-wide CRISPR activation screening in senescent cells reveals SOX5 as a driver and therapeutic target of rejuvenation.
Cell stem cellSenescence, regulators of alternative splicing and effects of trametinib treatment in progeroid syndromes.
GeroScienceCaspase 5 depletion is linked to hyper-inflammatory response and progeroid syndrome.
GeroScienceInsights into aging from progeroid syndrome epigenetics.
AgingDose imbalance of DYRK1A kinase causes systemic progeroid status in Down syndrome by increasing the un-repaired DNA damage and reducing LaminB1 levels.
EBioMedicineA subtype of laminopathies: Generalized lipodystrophy-associated progeroid syndrome caused by LMNA gene c.29C>T mutation.
Journal of diabetes investigationPerformance evaluation of CMIP6 climate models for selecting a suitable GCM for future precipitation at different places of Tamil Nadu.
Environmental monitoring and assessmentMulti-omic analysis of mandibuloacral dysplasia type A patient iPSC-derived MSC senescence reveals miR-311 as a novel biomarker for MSC senescence.
Human molecular geneticsA 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 ADifferent 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 assessmentSpectrum of Pediatric to Early Adulthood POLR3A-Associated Movement Disorders.
Movement disorders clinical practiceCase report: Variants in the ERCC4 gene as a rare cause of cerebellar ataxia with chorea.
Frontiers in geneticsFrom cue to meaning: The involvement of POLD1 gene in DNA replication, repair and aging.
Mechanisms of ageing and developmentA progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing.
EMBO molecular medicineProgeroid syndrome of De Barsy - a case report and review of ophthalmic literature.
Ophthalmic geneticsOptical coherence tomography findings in three patients with Werner syndrome.
BMC ophthalmologyAdult progeria: a new mutation in the WRN gene.
BMJ case reportsCase report: Focal segmental glomerulosclerosis in a pediatric atypical progeroid syndrome.
Frontiers in pediatricsNeuropathology 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 neurologyAutosomal recessive progeroid syndrome due to homozygosity for a TOMM7 variant.
The Journal of clinical investigationA novel MTX2 gene splice site variant resulting in exon skipping, causing the recently described mandibuloacral dysplasia progeroid syndrome.
American journal of medical genetics. Part AA Case of Wiedemann-Rautenstrauch Syndrome With Fatal Hyperkalemic Renal Faliure.
CureusFontaine progeroid syndrome-A case report.
Clinical case reportsAsprosin, a C-Terminal Cleavage Product of Fibrillin 1 Encoded by the FBN1 Gene, in Health and Disease.
Molecular syndromologyTargeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases.
Journal of medical geneticsSevere 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 investigationSuccessful surgical aortic valve replacement in a patient with progeria.
Interactive cardiovascular and thoracic surgeryPost-acute cardiac complications following SARS-CoV-2 infection in partial lipodystrophy due to LMNA gene p.R349W mutation.
Journal of endocrinological investigationA high prevalence of myeloid malignancies in progeria with Werner syndrome is associated with p53 insufficiency.
Experimental hematologyWerner syndrome in a Lebanese family.
American journal of medical genetics. Part ABiallelic CAV1 null variants induce congenital generalized lipodystrophy with achalasia.
European journal of endocrinologyA novel homozygous synonymous variant further expands the phenotypic spectrum of POLR3A-related pathologies.
American journal of medical genetics. Part AWerner syndrome presenting as early-onset diabetes: A case report.
Journal of diabetes investigation[Progeroid syndrome: A rare model of accelerated aging in human].
Nihon Ronen Igakkai zasshi. Japanese journal of geriatricsThe human ribosomal DNA array is composed of highly homogenized tandem clusters.
Genome researchWhole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome.
Italian journal of pediatricsAtypical progeroid syndrome (p.E262K LMNA mutation): a rare cause of short stature and osteoporosis.
Endocrinology, diabetes & metabolism case reportsWiedemann-Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A.
American journal of medical genetics. Part AIncreased insulin sensitivity and diminished pancreatic beta-cell function in DNA repair deficient Ercc1d/- mice.
Metabolism: clinical and experimentalCutaneous 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 MyologySMAD4 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.
GeroScienceEvolving 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 AThe Ercc1-/Δ mouse model of accelerated senescence and aging for identification and testing of novel senotherapeutic interventions.
AgingNeurodevelopmental regression, severe generalized dystonia, and metabolic acidosis caused by POLR3A mutations.
Neurology. GeneticsSevere metabolic disorders coexisting with Werner syndrome: a case report.
Endocrine journalNucleolar disruption, activation of P53 and premature senescence in POLR3A-mutated Wiedemann-Rautenstrauch syndrome fibroblasts.
Mechanisms of ageing and developmentNovel LMNA mutations in Greek and Myanmar Patients with Progeroid Features and Cardiac Manifestations.
Aging pathobiology and therapeuticsMultisystem Progeroid Syndrome With Lipodystrophy, Cardiomyopathy, and Nephropathy Due to an LMNA p.R349W Variant.
Journal of the Endocrine SocietyAtypical Progeroid Syndrome and Partial Lipodystrophy Due to LMNA Gene p.R349W Mutation.
Journal of the Endocrine SocietyA Novel Syndrome With Short Stature, Mandibular Hypoplasia, and Osteoporosis May Be Associated With a PRRT3 Variant.
Journal of the Endocrine SocietyPathophysiology of premature aging characteristics in Mendelian progeroid disorders.
European journal of medical geneticsMitochondrial Dysfunction, Oxidative Stress, and Neuroinflammation: Intertwined Roads to Neurodegeneration.
Antioxidants (Basel, Switzerland)Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann-Rautenstrauch syndrome.
European journal of human genetics : EJHGEpigenetic deregulation of lamina-associated domains in Hutchinson-Gilford progeria syndrome.
Genome medicineIs Gorlin-Chaudhry-Moss syndrome associated with aortopathy?
European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic SurgeryDiseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.
BiomoleculesFibrillin-1 and fibrillin-1-derived asprosin in adipose tissue function and metabolic disorders.
Journal of cell communication and signalingLooking at New Unexpected Disease Targets in LMNA-Linked Lipodystrophies in the Light of Complex Cardiovascular Phenotypes: Implications for Clinical Practice.
CellsEnergy Regulation Mechanism and Therapeutic Potential of Asprosin.
DiabetesFibrodysplasia Ossificans Progressiva (FOP): A Segmental Progeroid Syndrome.
Frontiers in endocrinologyRecurrent Femoral Fractures in a Boy with an Atypical Progeroid Syndrome: A Case Report.
Calcified tissue internationalA 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 geneticsInactivating Mutations in Exonuclease and Polymerase Domains in DNA Polymerase Delta Alter Sensitivities to Inhibitors of dNTP Synthesis.
DNA and cell biologyA case of generalized lipodystrophy-associated progeroid syndrome treated by leptin replacement with short and long-term monitoring of the metabolic and endocrine profiles.
Endocrine journalA variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL.
European journal of human genetics : EJHGATP-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 AmericaDiffuse, mottled hyperpigmentation and mutations in LMNA gene in a 5-year-old boy, his mother, and his grandmother: Atypical progeroid syndrome.
Pediatric dermatologyGrowing Old Too Fast: A Rare Case of Werner Syndrome.
CureusDiabetes mellitus coexisted with progeria: a case report of atypical Werner syndrome with novel LMNA mutations and literature review.
Endocrine journalEpigenetic signatures of Werner syndrome occur early in life and are distinct from normal epigenetic aging processes.
Aging cellSpecial-needs patients in pediatric dentistry: Progeroid syndrome. A case of dental management and oral rehabilitation.
Pediatric reportsThe Shape of Mitochondrial Dysfunction in Down Syndrome.
Developmental neurobiologyAccelerated bio-cognitive aging in Down syndrome: State of the art and possible deceleration strategies.
Aging cellPOLR3A 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 AA Transcriptome Study of Progeroid Neurocutaneous Syndrome Reveals POSTN As a New Element in Proline Metabolic Disorder.
Aging and diseaseAnalyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.
Human geneticsBi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.
American journal of human geneticsCTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures.
Molecular genetics & genomic medicineA rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24.
American journal of medical genetics. Part ASpecific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.
Journal of medical geneticsModeling Alzheimer's disease in progeria mice. An age-related concept.
Pathobiology of aging & age related diseasesFisetin is a senotherapeutic that extends health and lifespan.
EBioMedicineBiallelic WRN Mutations in Newly Identified Japanese Werner Syndrome Patients.
Molecular syndromologyA 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 reportsInvolvement of the nuclear structural proteins in aging-related responses of human skin to the environmental stress.
Clinical, cosmetic and investigational dermatologyWerner syndrome: a rare mutation.
Aging clinical and experimental researchOutpatient Interventions That May Enhance the Care of a Patient with Co-existing Moyamoya and Down Syndromes.
CureusRECQ helicase disease and related progeroid syndromes: RECQ2018 meeting.
Mechanisms of ageing and developmentThe Continuum of Aging and Age-Related Diseases: Common Mechanisms but Different Rates.
Frontiers in medicinePotential association of LMNA-associated generalized lipodystrophy with juvenile dermatomyositis.
Clinical diabetes and endocrinologyA Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation.
The Journal of clinical endocrinology and metabolismDefinitive diagnosis of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome caused by a recurrent de novo mutation in the POLD1 gene.
Endocrine journalERCC4 variants identified in a cohort of patients with segmental progeroid syndromes.
Human mutationDe Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.
American journal of human geneticsMolecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A.
Scientific reportsIdentification of HSP90 inhibitors as a novel class of senolytics.
Nature communicationsDysfunction of the MDM2/p53 axis is linked to premature aging.
The Journal of clinical investigationUncommon cause of cirrhosis-A case of Werner syndrome with a novel WRN mutation.
Indian journal of gastroenterology : official journal of the Indian Society of GastroenterologyWerner syndrome: a model for sarcopenia due to accelerated aging.
AgingWiedemann-Rautenstrauch Syndrome With Bilateral Tarsal Kink: Three Sutures for Correction.
The Journal of craniofacial surgeryA novel splice-site mutation of WRN (c.IVS28+2T>C) identified in a consanguineous family with Werner Syndrome.
Molecular medicine reportsRecent Trends in WRN Gene Mutation Patterns in Individuals with Werner Syndrome.
Journal of the American Geriatrics SocietyHomozygosity for the WRN Helicase-Inactivating Variant, R834C, does not confer a Werner syndrome clinical phenotype.
Scientific reportsExpansion of myeloid-derived suppressor cells with aging in the bone marrow of mice through a NF-κB-dependent mechanism.
Aging cellAccurate Detection of Dysmorphic Nuclei Using Dynamic Programming and Supervised Classification.
PloS oneProgeroid syndrome patients with ZMPSTE24 deficiency could benefit when treated with rapamycin and dimethylsulfoxide.
Cold Spring Harbor molecular case studiesSPRTN is a mammalian DNA-binding metalloprotease that resolves DNA-protein crosslinks.
eLifeWRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.
Human mutationNeonatal progeriod syndrome associated with biallelic truncating variants in POLR3A.
American journal of medical genetics. Part AIncreased susceptibility to oxidative stress- and ultraviolet A-induced apoptosis in fibroblasts in atypical progeroid syndrome/atypical Werner syndrome with LMNA mutation.
Experimental dermatologyDefective DNA repair increases susceptibility to senescence through extension of Chk1-mediated G2 checkpoint activation.
Scientific reportsAbsence of premature senescence in Werner's syndrome keratinocytes.
Experimental gerontologyLamin Mutations Accelerate Aging via Defective Export of Mitochondrial mRNAs through Nuclear Envelope Budding.
Current biology : CBRetinal features in Mulvihill-Smith syndrome.
Ophthalmic geneticsA Case of Novel Lamin A/C Mutation Manifesting as Atypical Progeroid Syndrome and Cardiomyopathy.
The Canadian journal of cardiologyAsprosin, a Fasting-Induced Glucogenic Protein Hormone.
CellWerner syndrome: Clinical features, pathogenesis and potential therapeutic interventions.
Ageing research reviewsThe Werner syndrome RECQ helicase targets G4 DNA in human cells to modulate transcription.
Human molecular geneticsPotential therapeutic effects of the MTOR inhibitors for preventing ageing and progeria-related disorders.
British journal of clinical pharmacologyOphthalmic manifestations in a case of Wiedemann-Rautenstrauch syndrome.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusThe effect of RO3201195 and a pyrazolyl ketone P38 MAPK inhibitor library on the proliferation of Werner syndrome cells.
Organic & biomolecular chemistryAnesthesia in an Aging Infant: Neonatal Progeroid Syndrome.
A & A case reportsMandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies.
Metabolism: clinical and experimentalRecurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
American journal of human geneticsA New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome.
Human mutationMuscle wasting in myotonic dystrophies: a model of premature aging.
Frontiers in aging neuroscienceA Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome.
PloS onePOLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.
Human mutationGenomic diagnosis by whole genome sequencing in a Korean family with atypical progeroid syndrome.
The Journal of dermatologyBarrier to Autointegration Factor (BANF1): interwoven roles in nuclear structure, genome integrity, innate immunity, stress responses and progeria.
Current opinion in cell biologyWhole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome.
American journal of medical genetics. Part A"...Rewritten in the skin": clues to skin biology and aging from inherited disease.
The Journal of investigative dermatologyAssociações
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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.
- IVNS1ABP mutation drives cellular senescence in newly identified progeroid neuropathy.
- The tight bond between Fanconi anemia and aging.
- Novel POLR3A Gene Mutation Results in Wiedemann-Rautenstrauch Syndrome With Striking Cutis Laxa and Myelofibrosis.
- Founder Pathogenic Variant in LMNA with Diverse Phenotypic Manifestations in Mandibuloacral Dysplasia: Insights from a Turkish Cohort.
- Fontaine progeroid syndrome into early adolescence: a case report.
- Growth Hormone Response in a Child With a Homozygous TOMM7 Mutation: Novel Therapeutic Insights.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:139033(Orphanet)
- MONDO:0015333(MONDO)
- GARD:19906(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- 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.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
