Pular para o conteúdo
Laminopatia
ORPHA:98301DOENÇA RARA
Esta doença tem causa genética. Recomendamos procurar um médico geneticista para diagnóstico, exames genéticos e aconselhamento familiar.
Visão / ocular

Doença genética rara causada por mutações em genes que codificam proteínas da lâmina nuclear.

Em construçãohistóricoSugerir correção
Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

💬
EM LINGUAGEM SIMPLES

A laminopatia é uma doença genética rara causada por alterações em proteínas que compõem a membrana que protege o núcleo das células. Ela pode provocar alterações no funcionamento do coração, perda de mobilidade nas articulações, queda de cabelo e lesões na pele. No Brasil, a condição não consta na lista oficial de diretrizes de doenças raras do Ministério da Saúde, não havendo remédio específico dispensado pelo SUS. O cuidado às famílias é realizado com foco no controle das complicações e na manutenção da qualidade de vida pela rede de saúde.

📋
Informacoes curadas por IA — podem conter imprecisoes

Doença genética rara causada por mutações em genes que codificam proteínas da lâmina nuclear.

Pesquisas ativas
3 ensaios
6 total registrados no ClinicalTrials.gov
Publicações científicas
410 artigos
Último publicado: 2026 Mar 24
Em pesquisa
8 moléculas
LONAFARNIB, METRELEPTIN, PRAVASTATIN

O que está sendo pesquisado

8 moléculas em estudo — nenhuma com registro para esta doença
Ver detalhes e fases →
LONAFARNIBMETRELEPTINPRAVASTATINZOLEDRONIC ACIDZOLEDRONIC ACID ANHYDROUSVUPANORSENOBETICHOLIC ACIDVOLANESORSEN
Aparecer aqui significa que a molécula foi estudada nesta doença, não que trate. Converse com seu médico.
🏥
SUS: Sem cobertura SUSScore: 0%
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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

🦴
Ossos e articulações
86 sintomas
💪
Músculos
62 sintomas
🧬
Pele e cabelo
41 sintomas
🧠
Neurológico
38 sintomas
❤️
Coração
36 sintomas
😀
Face
32 sintomas

+ 249 sintomas em outras categorias

Características mais comuns

—
Alopecia
—
Anormalidade do sistema complemento
—
Distrofia ungueal
—
Morfologia anormal da ponta do dedo
—
Aplasia mamária
—
Aplasia/Hipoplasia das clavículas
659sintomas
Sem dados (659)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 659 características clínicas mais associadas, ordenadas por frequência.

Anormalidade do sistema complementoAbnormality of complement system
Distrofia unguealNail dystrophy
Morfologia anormal da ponta do dedoAbnormal fingertip morphology
Aplasia mamáriaBreast aplasia

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico410PubMed
Últimos 10 anos200publicações
Pico202131 papers
Linha do tempo
2026Hoje · 2026🧪 2013Primeiro ensaio clínico📈 2021Ano 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.

LBRDelta(14)-sterol reductase LBRDisease-causing germline mutation(s) inRestrito
VIAS BIOLÓGICAS (3)
Initiation of Nuclear Envelope (NE) ReformationCholesterol biosynthesis via desmosterol (Bloch pathway)Regulation of MECP2 expression and activity
MECANISMO DE DOENÇA

Pelger-Huet anomaly

An autosomal dominant inherited abnormality of granulocytes, characterized by abnormal ovoid shape, reduced nuclear segmentation and an apparently looser chromatin structure.

EXPRESSÃO TECIDUAL(Ubíquo)
Cólon sigmoide
89.3 TPM
Linfócitos
88.9 TPM
Útero
68.5 TPM
Esôfago - Muscular
63.1 TPM
Cervix Ectocervix
54.0 TPM
OUTRAS DOENÇAS (4)
Greenberg dysplasiaregressive spondylometaphyseal dysplasiaPelger-Huet anomalyReynolds syndrome
HGNC:6518UniProt:Q14739
LMNB1Lamin-B1Candidate gene tested inAltamente restrito
VIAS BIOLÓGICAS (3)
Initiation of Nuclear Envelope (NE) ReformationRHOF GTPase cycleRHOD GTPase cycle
MECANISMO DE DOENÇA

Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical

A slowly progressive and fatal demyelinating leukodystrophy, presenting in the fourth or fifth decade of life. Clinically characterized by early autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS. It differs from multiple sclerosis and other demyelinating disorders in that neuropathology shows preservation of oligodendroglia in the presence of subtotal demyelination and lack of astrogliosis.

EXPRESSÃO TECIDUAL(Ubíquo)
Linfócitos
160.4 TPM
Sangue
37.7 TPM
Fibroblastos
25.6 TPM
Baço
21.1 TPM
Testículo
18.6 TPM
OUTRAS DOENÇAS (3)
microcephaly 26, primary, autosomal dominantautosomal dominant primary microcephalyadult-onset autosomal dominant demyelinating leukodystrophy
HGNC:6637UniProt:P20700
AKT2RAC-beta serine/threonine-protein kinaseCandidate gene tested inAltamente restrito
VIAS BIOLÓGICAS (5)
CD28 dependent PI3K/Akt signalingVEGFR2 mediated vascular permeabilityPIP3 activates AKT signalingNegative regulation of the PI3K/AKT networkG beta:gamma signalling through PI3Kgamma
OUTRAS DOENÇAS (3)
hypoinsulinemic hypoglycemia and body hemihypertrophytype 2 diabetes mellitusAKT2-related familial partial lipodystrophy
HGNC:392UniProt:P31751
LIPEHormone-sensitive lipaseDisease-causing germline mutation(s) inTolerante
VIAS BIOLÓGICAS (1)
Triglyceride catabolism
MECANISMO DE DOENÇA

Lipodystrophy, familial partial, 6

An autosomal recessive form of lipodystrophy characterized by abnormal subcutaneous fat distribution. Affected individuals have increased visceral fat, impaired lipolysis, dyslipidemia, hepatic steatosis, systemic insulin resistance, and diabetes. Some patients manifest muscular dystrophy.

EXPRESSÃO TECIDUAL(Ubíquo)
Tecido adiposo
342.8 TPM
Adipose Visceral Omentum
231.3 TPM
Mama
146.1 TPM
Testículo
74.5 TPM
Brain Spinal cord cervical c-1
57.0 TPM
OUTRAS DOENÇAS (1)
LIPE-related familial partial lipodystrophy
HGNC:6621UniProt:Q05469
NOTCH3Neurogenic locus notch homolog protein 3Disease-causing germline mutation(s) inRestrito
VIAS BIOLÓGICAS (1)
Pre-NOTCH Processing in Golgi
MECANISMO DE DOENÇA

Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1

A cerebrovascular disease characterized by multiple subcortical infarcts, pseudobulbar palsy, dementia, and the presence of granular deposits in small cerebral arteries producing ischemic stroke.

EXPRESSÃO TECIDUAL(Ubíquo)
Artéria tibial
402.5 TPM
Aorta
222.4 TPM
Artéria coronária
208.2 TPM
Tecido adiposo
157.8 TPM
Skin Sun Exposed Lower leg
145.9 TPM
OUTRAS DOENÇAS (5)
lateral meningocele syndromemyofibromatosis, infantile, 2cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1familial partial lipodystrophy, Kobberling type
HGNC:7883UniProt:Q9UM47
ADRA2AAlpha-2A adrenergic receptorDisease-causing germline mutation(s) inTolerante
VIAS BIOLÓGICAS (6)
G alpha (i) signalling eventsG alpha (z) signalling eventsAdrenaline signalling through Alpha-2 adrenergic receptorAdrenoceptorsSurfactant metabolism
MECANISMO DE DOENÇA

Lipodystrophy, familial partial, 8

An autosomal dominant form of partial lipodystrophy, a disorder characterized by abnormal subcutaneous fat distribution. FPLD8 patients show selective loss of subcutaneous adipose tissue from the limbs, beginning around 13 to 15 years of age, and abnormal accumulation of subcutaneous adipose tissue in the dorsal neck and face, as well as in the posterior thoracic and abdominal regions. The disorder is associated with metabolic abnormalities, including diabetes mellitus and hyperlipidemia.

OUTRAS DOENÇAS (1)
lipodystrophy, familial partial, type 8
HGNC:HGNC:281UniProt:P08913
CIDECLipid transferase CIDECDisease-causing germline mutation(s) inTolerante
VIAS BIOLÓGICAS (2)
MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosisLipid particle organization
OUTRAS DOENÇAS (1)
CIDEC-related familial partial lipodystrophy
HGNC:24229UniProt:Q96AQ7
SYNE2Nesprin-2Disease-causing germline mutation(s) inRestrito
VIAS BIOLÓGICAS (1)
Meiotic synapsis
MECANISMO DE DOENÇA

Emery-Dreifuss muscular dystrophy 5, 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.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Ovário
45.4 TPM
Tireoide
40.0 TPM
Skin Not Sun Exposed Suprapubic
34.1 TPM
Testículo
30.6 TPM
Nervo tibial
28.4 TPM
OUTRAS DOENÇAS (2)
Emery-Dreifuss muscular dystrophy 5, autosomal dominantautosomal dominant Emery-Dreifuss muscular dystrophy
HGNC:17084UniProt:Q8WXH0
PLAAT3Phospholipase A and acyltransferase 3Disease-causing germline mutation(s) inTolerante
VIAS BIOLÓGICAS (4)
Acyl chain remodelling of PIAcyl chain remodelling of PCAcyl chain remodelling of PEAcyl chain remodelling of PS
MECANISMO DE DOENÇA

Lipodystrophy, familial partial, 9

An autosomal recessive form of partial lipodystrophy, a disorder characterized by abnormal subcutaneous fat distribution. FPLD9 patients are lean and show muscular hypertrophy, insulin-resistant diabetes with hyperinsulinemia, hypertriglyceridemia with low high-density lipoprotein (HDL) cholesterol, liver steatosis, and polycystic ovary syndrome with hirsutism. Some patients have more generalized lipoatrophy, whereas others have abnormal fat accumulation in the face and neck regions and show cushingoid or acromegalic facial features. Most patients also have neurologic features, including demyelinating polyneuropathy, developmental delay and intellectual disability.

OUTRAS DOENÇAS (1)
lipodystrophy, familial partial, type 9
HGNC:17825UniProt:P53816
ZMPSTE24CAAX prenyl protease 1 homologDisease-causing germline mutation(s) inTolerante
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
SYNE1Nesprin-1Disease-causing germline mutation(s) inRestrito
VIAS BIOLÓGICAS (1)
Meiotic synapsis
MECANISMO DE DOENÇA

Spinocerebellar ataxia, autosomal recessive, 8

A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR8 is an autosomal recessive form.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Cerebelo
64.7 TPM
Cérebro - Hemisfério cerebelar
59.5 TPM
Ovário
38.9 TPM
Aorta
30.2 TPM
Tireoide
27.1 TPM
OUTRAS DOENÇAS (5)
Emery-Dreifuss muscular dystrophy 4, autosomal dominantautosomal recessive ataxia, Beauce typearthrogryposis multiplex congenita 3, myogenic typeautosomal recessive myogenic arthrogryposis multiplex congenita
HGNC:17089UniProt:Q8NF91
EMDEmerinDisease-causing germline mutation(s) inAltamente restrito
VIAS BIOLÓGICAS (3)
Initiation of Nuclear Envelope (NE) ReformationNuclear Envelope BreakdownDepolymerization of the Nuclear Lamina
MECANISMO DE DOENÇA

Emery-Dreifuss muscular dystrophy 1, X-linked

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)
Ovário
236.6 TPM
Artéria tibial
203.8 TPM
Útero
199.2 TPM
Fallopian Tube
185.4 TPM
Cervix Endocervix
177.1 TPM
OUTRAS DOENÇAS (2)
Emery-Dreifuss muscular dystrophy 1, X-linkedX-linked Emery-Dreifuss muscular dystrophy
HGNC:3331UniProt:P50402
PPARGPeroxisome proliferator-activated receptor gammaDisease-causing germline mutation(s) inModerado
VIAS BIOLÓGICAS (7)
Regulation of PTEN gene transcriptionTranscriptional regulation of white adipocyte differentiationPPARA activates gene expressionMECP2 regulates transcription factorsNuclear Receptor transcription pathway
EXPRESSÃO TECIDUAL(Ubíquo)
Tecido adiposo
111.2 TPM
Adipose Visceral Omentum
100.8 TPM
Mama
71.3 TPM
Cólon transverso
21.6 TPM
Fibroblastos
20.4 TPM
OUTRAS DOENÇAS (6)
type 2 diabetes mellitusPPARG-related familial partial lipodystrophyinherited obesitygliosarcoma
HGNC:9236UniProt:P37231
LMNAPrelamin-A/CDisease-causing germline mutation(s) inAltamente restrito
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
TMEM43Transmembrane protein 43Disease-causing germline mutation(s) inTolerante
MECANISMO DE DOENÇA

Arrhythmogenic right ventricular dysplasia, familial, 5

A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.

EXPRESSÃO TECIDUAL(Ubíquo)
Aorta
247.5 TPM
Artéria tibial
212.8 TPM
Útero
192.2 TPM
Artéria coronária
180.6 TPM
Fibroblastos
178.4 TPM
OUTRAS DOENÇAS (7)
Emery-Dreifuss muscular dystrophy 7, autosomal dominantarrhythmogenic right ventricular dysplasia 5auditory neuropathy, autosomal dominant 3familial isolated arrhythmogenic ventricular dysplasia, left dominant form
HGNC:28472UniProt:Q9BTV4
FHL1Four and a half LIM domains protein 1Disease-causing germline mutation(s) inAltamente restrito
MECANISMO DE DOENÇA

Emery-Dreifuss muscular dystrophy 6, X-linked

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.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Músculo esquelético
2024.8 TPM
Artéria tibial
1151.4 TPM
Aorta
1150.7 TPM
Esôfago - Junção
873.7 TPM
Esôfago - Muscular
862.0 TPM
OUTRAS DOENÇAS (7)
X-linked myopathy with postural muscle atrophyX-linked scapuloperoneal muscular dystrophymyopathy, reducing body, X-linked, early-onset, severemyopathy, reducing body, X-linked, childhood-onset
HGNC:3702UniProt:Q13642
LEMD3Inner nuclear membrane protein Man1Disease-causing germline mutation(s) inAltamente restrito
VIAS BIOLÓGICAS (3)
Initiation of Nuclear Envelope (NE) ReformationNuclear Envelope BreakdownDepolymerization of the Nuclear Lamina
MECANISMO DE DOENÇA

Buschke-Ollendorff syndrome

A disease characterized by osteopoikilosis and disseminated connective-tissue nevi. Osteopoikilosis is a skeletal dysplasia characterized by a symmetric but unequal distribution of multiple hyperostotic areas in different parts of the skeleton. Elastic-type nevi (juvenile elastoma) and collagen-type nevi (dermatofibrosis lenticularis disseminata) have been described in BOS. Skin or bony lesions can be absent in some family members, whereas other relatives may have both.

EXPRESSÃO TECIDUAL(Ubíquo)
Cérebro - Hemisfério cerebelar
28.0 TPM
Útero
26.4 TPM
Cervix Ectocervix
24.0 TPM
Cervix Endocervix
22.5 TPM
Ovário
22.5 TPM
OUTRAS DOENÇAS (4)
Buschke-Ollendorff syndrome12q14 microdeletion syndromemelorheostosis with osteopoikilosisisolated osteopoikilosis
HGNC:28887UniProt:Q9Y2U8
PLIN1Perilipin-1Disease-causing germline mutation(s) inTolerante
VIAS BIOLÓGICAS (4)
Transcriptional regulation of white adipocyte differentiationMLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosisTriglyceride catabolismNR1H2 & NR1H3 regulate gene expression linked to triglyceride lipolysis in adipose
MECANISMO DE DOENÇA

Lipodystrophy, familial partial, 4

An autosomal dominant form of lipodystrophy characterized by loss of subcutaneous adipose tissue primarily affecting the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension.

EXPRESSÃO TECIDUAL(Ubíquo)
Tecido adiposo
970.2 TPM
Adipose Visceral Omentum
542.5 TPM
Mama
309.8 TPM
Nervo tibial
39.5 TPM
Artéria coronária
30.3 TPM
OUTRAS DOENÇAS (1)
PLIN1-related familial partial lipodystrophy
HGNC:9076UniProt:O60240

Medicamentos e terapias

LONAFARNIBPhase 4

Mecanismo: Protein farnesyltransferase inhibitor

METRELEPTINPhase 4

Mecanismo: Leptin receptor agonist

PRAVASTATINPhase 2

Mecanismo: HMG-CoA reductase inhibitor

ZOLEDRONIC ACIDPhase 2

Mecanismo: Farnesyl diphosphate synthase inhibitor

ZOLEDRONIC ACID ANHYDROUSPhase 2

Mecanismo: Farnesyl diphosphate synthase inhibitor

VUPANORSENPhase 2

Mecanismo: Angiopoietin like 3 (ANGPTL3) mRNA antisense inhibitor

OBETICHOLIC ACIDPhase 2

Mecanismo: Bile acid receptor FXR agonist

VOLANESORSENPhase 2

Mecanismo: Apolipoprotein C-III mRNA 3'UTR antisense inhibitor

Ver mais no OpenTargets

Variantes genéticas (ClinVar)

178 variantes patogênicas registradas no ClinVar.

🧬 LBR: NM_002296.4(LBR):c.265C>T (p.Arg89Ter) ()
🧬 LBR: NM_002296.4(LBR):c.1483+2T>A ()
🧬 LBR: GRCh37/hg19 1q21.1-44(chr1:143932350-249224684)x3 ()
🧬 LBR: NM_002296.4(LBR):c.48G>A (p.Trp16Ter) ()
🧬 LBR: NM_002296.4(LBR):c.1350T>A (p.Asp450Glu) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 13 variantes classificadas pelo ClinVar.

12
1
Patogênica (92.3%)
VUS (7.7%)
VARIANTES MAIS SIGNIFICATIVAS
LMNA: NM_170707.4(LMNA):c.1110C>G (p.Asp370Glu) [Likely pathogenic]
LMNA: NM_170707.4(LMNA):c.647G>A (p.Arg216His) [Conflicting classifications of pathogenicity]
LMNA: NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) [Conflicting classifications of pathogenicity]
LMNA: NM_170707.2(LMNA):c.(?_1)_(356_?)del [Pathogenic]
LMNA: NM_170707.4(LMNA):c.1634G>A (p.Arg545His) [Conflicting classifications of pathogenicity]

Vias biológicas (Reactome)

82 vias biológicas associadas aos genes desta condição.

Initiation of Nuclear Envelope (NE) Reformation Cholesterol biosynthesis via desmosterol (Bloch pathway) RHOA GTPase cycle RHOC GTPase cycle CDC42 GTPase cycle RAC1 GTPase cycle RAC2 GTPase cycle RHOD GTPase cycle RHOG GTPase cycle RAC3 GTPase cycle Regulation of MECP2 expression and activity Meiotic synapsis Formation of Senescence-Associated Heterochromatin Foci (SAHF) Nuclear Envelope Breakdown Breakdown of the nuclear lamina Depolymerization of the Nuclear Lamina Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation RHOF GTPase cycle Activation of BAD and translocation to mitochondria PIP3 activates AKT signaling Downregulation of ERBB2:ERBB3 signaling Translocation of SLC2A4 (GLUT4) to the plasma membrane Activation of AKT2 PDE3B signalling Inhibition of TSC complex formation by PKB AKT phosphorylates targets in the cytosol AKT phosphorylates targets in the nucleus Negative regulation of the PI3K/AKT network AKT-mediated inactivation of FOXO1A Deactivation of the beta-catenin transactivating complex CD28 dependent PI3K/Akt signaling Co-inhibition by CTLA4 G beta:gamma signalling through PI3Kgamma VEGFR2 mediated vascular permeability TP53 Regulates Metabolic Genes Constitutive Signaling by AKT1 E17K in Cancer Regulation of TP53 Degradation Regulation of TP53 Activity through Acetylation Regulation of TP53 Activity through Association with Co-factors Cyclin E associated events during G1/S transition Cyclin A:Cdk2-associated events at S phase entry RAB GEFs exchange GTP for GDP on RABs RUNX2 regulates genes involved in cell migration Regulation of PTEN stability and activity FLT3 Signaling Regulation of localization of FOXO transcription factors Estrogen-dependent nuclear events downstream of ESR-membrane signaling KEAP1-NFE2L2 pathway Triglyceride catabolism MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis Pre-NOTCH Processing in the Endoplasmic Reticulum Pre-NOTCH Transcription and Translation Pre-NOTCH Processing in Golgi Notch-HLH transcription pathway Defective LFNG causes SCDO3 NOTCH3 Activation and Transmission of Signal to the Nucleus NOTCH3 Intracellular Domain Regulates Transcription Noncanonical activation of NOTCH3 Adrenoceptors Adrenaline signalling through Alpha-2 adrenergic receptor Adrenaline,noradrenaline inhibits insulin secretion G alpha (i) signalling events G alpha (z) signalling events Surfactant metabolism Assembly of active LPL and LIPC lipase complexes Lipid particle organization Insertion of tail-anchored proteins into the endoplasmic reticulum membrane PPARA activates gene expression Transcriptional regulation of white adipocyte differentiation Nuclear Receptor transcription pathway SUMOylation of intracellular receptors Regulation of PTEN gene transcription MECP2 regulates transcription factors Transcriptional regulation of brown and beige adipocyte differentiation by EBF2 XBP1(S) activates chaperone genes Signaling by BRAF and RAF1 fusions Complement cascade RND3 GTPase cycle RND2 GTPase cycle RND1 GTPase cycle NR1H2 & NR1H3 regulate gene expression linked to triglyceride lipolysis in adipose

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
✓Aprovado2
2Fase 28
·Pré-clínico4
Medicamentos catalogadosEnsaios clínicos· 8 medicamentos · 6 ensaios
✓ Aprovados — podem ser usados hoje
LONAFARNIBMETRELEPTIN
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Laminopatia

🗺️

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

Onde estão os ensaios

Com ensaio aberto em 2 países. O ponto verde marca onde há vaga agora.

🟢 Recrutando agora

3 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

6 ensaios clínicos encontrados, 3 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

Timeline de publicações
282 papers (10 anos)
#1

LeDucq-funded programme: from pathomechanisms to personalized therapy of cardio-laminopathy.

European heart journal2026 Mar 24
#2

Lamin A/C in health, laminopathies, and familial partial lipodystrophy 2.

Trends in endocrinology and metabolism: TEM2026 Mar 17

Familial partial lipodystrophy 2 (FPLD2) is a rare disease characterized by selective adipose tissue loss, expansion, and dysfunction, caused by pathogenic variants in LMNA encoding nuclear lamins A and C. Here, we synthesize current evidence on how nuclear shape abnormalities, impaired mechanosensing, blocked adipogenesis, chromatin remodeling, and altered lamin-binding partner interactions may contribute to FPLD2 pathology. Emerging data highlight chromatin and transcriptional dysregulation of lipogenic, mitochondrial, and inflammatory genes as central drivers, with other mechanisms acting in complementary ways. We also discuss depot-specific transcriptional remodeling that may explain differential adipose loss and expansion in FPLD2. Understanding how these mechanistic pathways converge across FPLD2 and other laminopathies may reveal new therapeutic targets to preserve adipose function.

#3

Metabolic Dysregulation in Laminopathies: Implications for Heart Failure and Cardiac Health.

Current heart failure reports2026 Feb 02

Laminopathies are a diverse group of genetic disorders caused by variants in nuclear lamina proteins, with heart failure being a major cause of morbidity and mortality in patients. By shifting the perspective from distinct clinical phenotypes to a continuous spectrum of metabolic observations in laminopathies, this review aims to elucidate the molecular mechanisms underlying metabolic dysregulation in laminopathies and their impact on cardiac health. Emerging evidence links A-type lamins to cellular metabolism, with systemic metabolic changes such as lipodystrophy, insulin resistance and hypertriglyceridemia often detected in laminopathy patients before cardiac symptoms onset. At the molecular level, LMNA variants disrupt the regulation of genes involved in fatty acid, oxidation glucose utilization, and mitochondrial function. These disturbances increase cardiomyocyte susceptibility, promoting fibrosis and apoptosis. Metabolic dysregulation is a recurring observation across the laminopathy spectrum. Targeting metabolic pathways shows preclinical promise for improving cardiac outcomes in patients.

#4

Autosomal-Recessive LMNA Dilated Cardiomyopathy.

JACC. Case reports2026 Feb 04

Variants in the LMNA gene (which encodes intermediate filaments lamin A and lamin C) result in a variety of phenotypes that include overlapping features, such as progeroid syndromes, muscular dystrophies, peripheral neuropathies, lipodystrophies, and cardiac disease (including dilated cardiomyopathy and conduction disorders). We describe a case of primary biventricular, nonischemic dilated cardiomyopathy and no myopathic symptoms with a homozygous LMNA c.991C>T (p.Arg331Trp) likely pathogenic variant. The patient, a 39-year-old woman, presented with symptoms of dilated cardiomyopathy and has had ablation, medical management, and a pacemaker placed because of arrythmias. Most LMNA disorders are inherited in an autosomal-dominant fashion, with rare autosomal-recessive laminopathies mainly involving neuromuscular phenotypes. Laminopathies that have involved cardiomyopathies have all been reported to be autosomal dominant. To our knowledge, this is the first reported case of an autosomal-recessive laminopathy with primary dilated cardiomyopathy.

#5

Outcomes of Ventricular Tachycardia Ablation in Cardiac Laminopathy: An Updated Systematic Review and Single-Arm Meta-Analysis.

Journal of cardiovascular electrophysiology2026 Feb

Ventricular tachycardia (VT) is a life-threatening arrhythmia frequently observed in structural heart diseases, including LMNA-related cardiomyopathy, a genetic disorder associated with high risk of sudden cardiac death and progressive systolic dysfunction. While catheter ablation is an established therapeutic option for VT, its efficacy in cardiac laminopathy remains poorly defined. To synthesize available evidence on the role and outcomes of VT ablation in patients with cardiac laminopathy. A systematic review and single-arm meta-analysis was performed in accordance with PRISMA guidelines. PubMed, Embase, and Cochrane databases were searched for studies reporting VT ablation outcomes in LMNA-related cardiomyopathy. An inverse variance random-effects model was applied for meta-analysis of proportions. Seven studies (six cohorts, one abstract) comprising 62 patients (mean age 53.2 ± 9.7 years; 85% male; 88% with implantable cardioverter-defibrillator) were included. An endocardial/endo-epicardial approach was used in 93% of cases. Acute procedural success was achieved in 37% (95% CI: 14%-63%; I² = 27.4%), and 28% required multiple procedures. Over a median follow-up of 26 (9-35) months, VT recurrence occurred in 91% (95% CI: 76%-100%; I² = 37.2%). All-cause mortality was 54% (95% CI: 39%-70%; I² = 28%), predominantly from cardiac causes (51%, 95% CI: 25%-76%; I² = 53%), and 14% (95% CI: 1%-34%; I² = 42%) underwent heart transplantation. In LMNA-related cardiomyopathy, catheter ablation is associated with high VT recurrence, limited long-term success, and substantial cardiovascular mortality and transplantation rates, underscoring the importance of ICD implantation and the need for alternative strategies, including variant-specific and molecularly targeted therapies.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC106 artigos no totalmostrando 199

2026

Lamin A/C in health, laminopathies, and familial partial lipodystrophy 2.

Trends in endocrinology and metabolism: TEM
2026

Metabolic Dysregulation in Laminopathies: Implications for Heart Failure and Cardiac Health.

Current heart failure reports
2025

P18 ZMPSTE24 variant with the lethal phenotype of restrictive dermopathy.

The British journal of dermatology
2026

Autosomal-Recessive LMNA Dilated Cardiomyopathy.

JACC. Case reports
2025

The impact of alterations in lamin A on genome integrity.

Mutation research. Reviews in mutation research
2026

Outcomes of Ventricular Tachycardia Ablation in Cardiac Laminopathy: An Updated Systematic Review and Single-Arm Meta-Analysis.

Journal of cardiovascular electrophysiology
2025

Genetically Confirmed Familial Case of Nonsyndromic Cardiac Progeria Caused by the LMNA p.Asp300Asn Variant with Presumed Gonadal Mosaicism: Phenotypic Comparison with Previously Reported Patients.

Genes
2025

Reduced ZMPSTE24 expression leads to prelamin accumulation and development of steatosis in MASLD patients.

Scientific reports
2025

Rare clinical convergence: pulmonary sarcoidosis with dilated cardiomyopathy and central myopathy.

BMJ case reports
2025

Inner Retina Changes in ABCA4-Related Retinopathy: Structure-Function Relationship.

Investigative ophthalmology & visual science
2026

LeDucq-funded programme: from pathomechanisms to personalized therapy of cardio-laminopathy.

European heart journal
2025

Nuclear-lamin-guided plastic positioning and folding of the human genome.

Cell reports
2025

Drosophila as a Model for Studying the Roles of Lamins in Normal Tissues and Laminopathies.

Cells
2025

Reciprocated tachycardias in cardiac laminopathy: a clinical case report.

European heart journal. Case reports
2025

Sterile inflammation in laminopathies.

European journal of cell biology
2025

Unusual course of outflow tract tachycardia and cardiac decompensation in childhood: a case report and review of the literature.

Herzschrittmachertherapie & Elektrophysiologie
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

Variant-Specific Late Gadolinium Enhancement Patterns Influence Clinical Outcomes in LMNA-Related Cardiomyopathy.

Journal of the American Heart Association
2025

Pathological α-synuclein perturbs nuclear integrity.

Neurobiology of disease
2025

National survey of Hutchinson-Gilford progeria syndrome and progeroid laminopathy in Japan.

Aging
2025

Clustering cell nuclei on microgrooves for disease diagnosis using deep learning.

Scientific reports
2025

Genotype-guided cardiac device intervention in LMNA-related cardiac conduction disorder: The need for timely genetic testing.

European journal of heart failure
2025

[New pathogenic mutation in LMNA gene: Clinical case of familial cardiomyopathy].

Terapevticheskii arkhiv
2025

Lamin AC Cardiomyopathy, the Next Masquerader: Laminopathy Mimicking Cardiac Sarcoidosis.

Cureus
2025

Downregulation of Nesprin1 by Runx2 deficiency is critical for the development of skeletal laminopathy-like pathology.

Proceedings of the National Academy of Sciences of the United States of America
2025

Familial cardiac laminopathy with predominant atrial involvement: a case series of a family with LMNA mutation.

European heart journal. Case reports
2025

The role of inner nuclear membrane protein emerin in myogenesis.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2025

Molecular mechanism on autophagy associated cardiovascular dysfunction in Drosophila melanogaster.

Frontiers in cell and developmental biology
2025

Homozygous loss of function variant in LMNB2 gene causes major brain malformation and perinatal death.

Journal of medical genetics
2025

Radiation symptoms resemble laminopathies and the physical underlying cause may sit at the lamin A C-terminus.

Molecular medicine (Cambridge, Mass.)
2025

The Basis of Diversity in Laminopathy Phenotypes Caused by Variants in the Intron 8 Donor Splice Site of the LMNA Gene.

International journal of molecular sciences
2025

Micro-Scale Topography Triggers Dynamic 3D Nuclear Deformations.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)
2025

Atrial standstill phenomenon in a non-dilated cardiomyopathy phenotype of a genetically confirmed laminopathy.

Kardiologia polska
2024

Much More Than a Stroke: Emery-Dreifuss Muscular Dystrophy Type 2 Revealed by Ischemic Stroke.

Cureus
2024

Case Report: Concurrent de novo pathogenic variants in the LMNA gene as a cause of sporadic partial lipodystrophy.

Frontiers in genetics
2024

When Off-Target Is the Target: Treating Noncardiomyocytes in Cardiac Laminopathy.

JACC. Basic to translational science
2024

Optimized simple culture protocol for inducing mature myotubes from MYOD1-overexpressed human iPS cells.

Scientific reports
2024

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

Nature communications
2024

Cardiac laminopathy in familial partial lipodystrophy type 2 secondary to variants in the LMNA gene.

Medicina clinica
2024

Post-COVID Myocarditis in Patients with Primary Cardiomyopathies: Diagnosis, Clinical Course and Outcomes.

Genes
2024

Targeting Caspases 3/6 and Cathepsins L/B May Decrease Laminopathy-Induced Apoptosis in Alzheimer's Disease.

Journal of Alzheimer's disease : JAD
2024

Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort.

Journal of neuromuscular diseases
2024

A case of restrictive dermopathy in a Hutterite newborn: Diagnosis and creative skin-directed management.

Pediatric dermatology
2024

Troponin T Assessment Allows for Identification of Mutation Carriers among Young Relatives of Patients with LMNA-Related Dilated Cardiomyopathy.

Journal of clinical medicine
2024

Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins.

International journal of molecular sciences
2024

Creatine and L-carnitine attenuate muscular laminopathy in the LMNA mutation transgenic zebrafish.

Scientific reports
2024

Pervasive nuclear envelope ruptures precede ECM signaling and disease onset without activating cGAS-STING in Lamin-cardiomyopathy mice.

Cell reports
2024

Eliminating elevated p53 signaling fails to rescue skeletal muscle defects or extend survival in lamin A/C-deficient mice.

Cell death discovery
2025

How to Screen and Manage Suspected Laminopathy.

Internal medicine (Tokyo, Japan)
2024

The Influence of a Genetic Variant in CCDC78 on LMNA-Associated Skeletal Muscle Disease.

International journal of molecular sciences
2024

A novel deep intronic variant in LAMA2 identified by RNA sequencing.

Neuromuscular disorders : NMD
2024

From gene to mechanics: a comprehensive insight into the mechanobiology of LMNA mutations in cardiomyopathy.

Cell communication and signaling : CCS
2024

Cardiomyopathy with an LMNA Genetic Variant Affecting Three Consecutive Generations: A Case Series.

Internal medicine (Tokyo, Japan)
2023

LMNA R644C associates with hepatic steatosis in a large cohort and increases cellular lipid droplet accumulation in vitro.

medRxiv : the preprint server for health sciences
2023

Interatrial block as a first clinical presentation of atrial cardiomyopathy related to a novel LMNA variant: a case report.

European heart journal. Case reports
2023

A silent interweaving: interatrial block and laminopathy.

European heart journal. Case reports
2023

COMPREHENSIVE CARDIOVASCULAR THERAPY IN EMERY-DREIFUSS MUSCULAR DYSTROPHY: A CASE REPORT.

Wiadomosci lekarskie (Warsaw, Poland : 1960)
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.)
2024

How nuclear envelope dynamics can direct laminopathy phenotypes.

Current opinion in cell biology
2024

Magnetic resonance imaging-based criteria to differentiate dysferlinopathy from other genetic muscle diseases.

Neuromuscular disorders : NMD
2024

Long lifetime and tissue-specific accumulation of lamin A/C in Hutchinson-Gilford progeria syndrome.

The Journal of cell biology
2023

Naturally occurring canine laminopathy leading to a dilated and fibrosing cardiomyopathy in the Nova Scotia Duck Tolling Retriever.

Scientific reports
2023

An alpha-helix variant p.Arg156Pro in LMNA as a cause of hereditary dilated cardiomyopathy: genetics and bioinfomatics exploration.

BMC medical genomics
2023

Intermediate, but not average: The unusual lives of the nuclear lamin proteins.

Current opinion in cell biology
2023

A common variant that alters SUN1 degradation associates with hepatic steatosis and metabolic traits in multiple cohorts.

Journal of hepatology
2023

SUMO protease SENP6 protects the nucleus from hyperSUMOylation-induced laminopathy-like alterations.

Cell reports
2023

Nuclear proteostasis imbalance in laminopathy-associated premature aging diseases.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2023

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

Journal of diabetes investigation
2023

First human implant of the cardiac contractility modulation in patient with dilated cardiomyopathy-related laminopathy.

HeartRhythm case reports
2024

A Clinical Diagnosis of Laminopathy without Systolic Dysfunction: When Does Nuclei Malformation Start?

Internal medicine (Tokyo, Japan)
2023

Novel Phenotype of LMNA Variant c.154C>G Affecting Heart, Liver, and Lipid and Iron Metabolism: A Case Report.

Cureus
2023

A Case of Cardiogenic Stroke With a Novel LMNA Variant (c. 1135C>A; p.Leu379Ile).

Cureus
2023

Drosophila Models Reveal Properties of Mutant Lamins That Give Rise to Distinct Diseases.

Cells
2023

The Interplay between Oxidative Stress and the Nuclear Lamina Contributes to Laminopathies and Age-Related Diseases.

Cells
2023

A Genetically Confirmed Case of Laminopathy: Clues from the Clinical Picture and Muscle Biopsy.

Neurology India
2023

Lem2 is essential for cardiac development by maintaining nuclear integrity.

Cardiovascular research
2023

Reevaluating the cause of laminopathy in Alzheimer's disease.

Neural regeneration research
2023

InterLINCing Chromatin Organization and Mechanobiology in Laminopathies.

Current cardiology reports
2023

LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation.

Frontiers in genetics
2023

Genomic analysis of a novel pathogenic variant in the gene LMNA associated with cardiac laminopathies found in Ecuadorian siblings: A case report.

Frontiers in cardiovascular medicine
2023

The Molecular and Cellular Basis of Hutchinson-Gilford Progeria Syndrome and Potential Treatments.

Genes
2023

Nuclear mechanosignaling in striated muscle diseases.

Frontiers in physiology
2023

Enhanced Expression of a Novel Lamin A/C Splice Variant in Idiopathic Pulmonary Fibrosis Lung.

American journal of respiratory cell and molecular biology
2023

The Nuclear Envelope in Ageing and Progeria.

Sub-cellular biochemistry
2022

LMNA Co-Regulated Gene Expression as a Suitable Readout after Precise Gene Correction.

International journal of molecular sciences
2022

Redistribution of lamina-associated domains reshapes binding of pioneer factor FOXA2 in development of nonalcoholic fatty liver disease.

Genome research
2022

Aberrant chromatin organization at the nexus of laminopathy disease pathways.

Nucleus (Austin, Tex.)
2023

Timing of cardioverter-defibrillator implantation in patients with cardiac laminopathies-External validation of the LMNA-risk ventricular tachyarrhythmia calculator.

Heart rhythm
2023

Lipoatrophic diabetes in familial partial lipodystrophy type 2: From insulin resistance to diabetes.

Diabetes & metabolism
2022

Restrictive dermopathy: A baby with taut skin, facial dysmorphism, joint contractures, and pulmonary hypoplasia.

JAAD case reports
2023

Disease progression rate is a strong predictor of ventricular arrhythmias in patients with cardiac laminopathies: a primary prevention cohort study.

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology
2022

[A case report of laminopathy-cardiomyopathy].

Zhonghua xin xue guan bing za zhi
2022

Genotype Complements the Phenotype: Identification of the Pathogenicity of an LMNA Splice Variant by Nanopore Long-Read Sequencing in a Large DCM Family.

International journal of molecular sciences
2022

The E262K mutation in Lamin A links nuclear proteostasis imbalance to laminopathy-associated premature aging.

Aging cell
2022

LMNA mutation leads to cardiac sodium channel dysfunction in the Emery-Dreifuss muscular dystrophy patient.

Frontiers in cardiovascular medicine
2022

Personalized Medicine Approach in a DCM Patient with LMNA Mutation Reveals Dysregulation of mTOR Signaling.

Journal of personalized medicine
2022

IFN-Aging: Coupling Aging With Interferon Response.

Frontiers in aging
2022

The most severe form of LMNA-associated congenital muscular dystrophy.

Brain & development
2022

Genetic Appraisal of Hereditary Muscle Disorders In A Cohort From Mumbai, India.

Journal of neuromuscular diseases
2022

Lamin A and telomere maintenance in aging: Two to Tango.

Mutation research
2022

Post-Translational Modification of Lamins: Mechanisms and Functions.

Frontiers in cell and developmental biology
2022

Effect of Occurrence of Lamin A/C (LMNA) Genetic Variants in a Cohort of 101 Consecutive Apparent "Lone AF" Patients: Results and Insights.

Frontiers in cardiovascular medicine
2022

MDS/AML with del5q: An acquired "laminopathy"?

Cell stem cell
2022

Autophagy-mediated plasma membrane removal promotes the formation of epithelial syncytia.

The EMBO journal
2022

Emerin self-assembly and nucleoskeletal coupling regulate nuclear envelope mechanics against stress.

Journal of cell science
2022

Diurnal shift of mouse activity by the deficiency of an ageing-related gene Lmna.

Journal of biochemistry
2022

The wide and growing range of lamin B-related diseases: from laminopathies to cancer.

Cellular and molecular life sciences : CMLS
2022

DNA methylation signatures in Blood DNA of Hutchinson-Gilford Progeria syndrome.

Aging cell
2022

Heterozygous LMNA mutation-carrying iPSC lines from three cardiac laminopathy patients.

Stem cell research
2022

Lethal Restrictive Dermopathy with ZMPSTE24 Mutation.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
2022

Regulatory role of cathepsin L in induction of nuclear laminopathy in Alzheimer's disease.

Aging cell
2021

Laminopathies: should Wenckebach be a cause for concern? A case report.

European heart journal. Case reports
2022

Familial atrial myopathy in a large multigenerational heart-hand syndrome pedigree carrying an LMNA missense variant in rod 2B domain (p.R335W).

Heart rhythm
2021

Predictors of mortality and cardiovascular outcomes in Emery-Dreifuss muscular dystrophy in a long-term follow-up.

Kardiologia polska
2021

Clinical Features of LMNA-Related Cardiomyopathy in 18 Patients and Characterization of Two Novel Variants.

Journal of clinical medicine
2021

Preclinical Advances of Therapies for Laminopathies.

Journal of clinical medicine
2021

In Silico and In Vivo Analysis of Amino Acid Substitutions That Cause Laminopathies.

International journal of molecular sciences
2022

Molecular Pathology of Laminopathies.

Annual review of pathology
2021

[When oncology research opens a path toward a therapy for a laminopathy].

Medecine sciences : M/S
2021

Restrictive dermopathy: Three new patients with ZMPSTE24 mutations and a review of the literature.

Pediatric dermatology
2021

Super-Resolution Imaging of the A- and B-Type Lamin Networks: A Comparative Study of Different Fluorescence Labeling Procedures.

International journal of molecular sciences
2021

Importance of clinical suspicion and multidisciplinary management for early diagnosis of a cardiac laminopathy patient: A case report.

World journal of clinical cases
2022

A CRISPR/Cas9 zebrafish lamin A/C mutant model of muscular laminopathy.

Developmental dynamics : an official publication of the American Association of Anatomists
2021

[A case of laminopathy with the mutation of LMNA gene identified by the exome analysis of disease-related genes].

Rinsho shinkeigaku = Clinical neurology
2021

Management of heart failure with concomitant complete atrioventricular block caused by a novel missense LMNA mutation.

Journal of electrocardiology
2021

A novel biallelic LMNB2 variant in a patient with progressive myoclonus epilepsy and ataxia: A case of laminopathy.

Clinical case reports
2021

Establishment of a novel human iPSC line (YCMi003-A) from a patient with dilated cardiomyopathy carrying genetic variant LMNA p.Asp364His.

Stem cell research
2022

Oxidative Stress and Mitochondrial Dysfunction Associated with Peripheral Neuropathy in Type 1 Diabetes.

Antioxidants & redox signaling
2021

AIMP3 induces laminopathy and senescence of vascular smooth muscle cells by reducing lamin A expression and leads to vascular aging in vivo.

Experimental gerontology
2021

DNA methylation analysis reveals epimutation hotspots in patients with dilated cardiomyopathy-associated laminopathies.

Clinical epigenetics
2021

THE NUCLEUS: Mechanosensing in cardiac disease.

The international journal of biochemistry & cell biology
2021

International retrospective natural history study of LMNA-related congenital muscular dystrophy.

Brain communications
2021

Expression of the Ebola Virus VP24 Protein Compromises the Integrity of the Nuclear Envelope and Induces a Laminopathy-Like Cellular Phenotype.

mBio
2021

Components and Mechanisms of Nuclear Mechanotransduction.

Annual review of cell and developmental biology
2021

Case Report: An Atypical Form of Familial Partial Lipodystrophy Type 2 Due to Mutation in the Rod Domain of Lamin A/C.

Frontiers in endocrinology
2021

Floppy infant syndrome as a first manifestation of LMNA-related congenital muscular dystrophy.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2021

Establishment of an iPSC line (JSPHi001-A) from a patient with familial dilated cardiomyopathy and atrial fibrillation caused by LMNA missense mutation (c.1003C > T).

Stem cell research
2021

Persistent atrial fibrillation ablation in cardiac laminopathy: Electrophysiological findings and clinical outcomes.

Heart rhythm
2021

The progeria research foundation 10th international scientific workshop; researching possibilities, ExTENding lives - webinar version scientific summary.

Aging
2021

Cardiac Arrhythmias in Muscular Dystrophies Associated with Emerinopathy and Laminopathy: A Cohort Study.

Journal of clinical medicine
2022

Paclitaxel mitigates structural alterations and cardiac conduction system defects in a mouse model of Hutchinson-Gilford progeria syndrome.

Cardiovascular research
2021

Lamin B1 acetylation slows the G1 to S cell cycle transition through inhibition of DNA repair.

Nucleic acids research
2021

Pathogenic LMNA variants disrupt cardiac lamina-chromatin interactions and de-repress alternative fate genes.

Cell stem cell
2021

Cardiac phenotype in familial partial lipodystrophy.

Clinical endocrinology
2021

Targeting the histone demethylase LSD1 prevents cardiomyopathy in a mouse model of laminopathy.

The Journal of clinical investigation
2021

Epigenetic reprogramming to prevent genetic cardiomyopathy.

The Journal of clinical investigation
2020

Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.

Frontiers in neurology
2020

Decreased mechanotransduction prevents nuclear collapse in a Caenorhabditis elegans laminopathy.

Proceedings of the National Academy of Sciences of the United States of America
2021

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy.

Genetics in medicine : official journal of the American College of Medical Genetics
2020

Nuclear lamin phosphorylation: an emerging role in gene regulation and pathogenesis of laminopathies.

Nucleus (Austin, Tex.)
2020

Hutchinson-Gilford Progeria Syndrome: Clinical and Molecular Characterization.

The application of clinical genetics
2020

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.

Nature communications
2020

Molecular and Mechanobiological Pathways Related to the Physiopathology of FPLD2.

Cells
2020

LMNA Missense Mutation Causes Nonsense-Mediated mRNA Decay and Severe Dilated Cardiomyopathy.

Circulation. Genomic and precision medicine
2020

Lamin A-mediated nuclear lamina integrity is required for proper ciliogenesis.

EMBO reports
2020

Structural and Mechanical Aberrations of the Nuclear Lamina in Disease.

Cells
2020

Cardiovascular Involvement in Pediatric Laminopathies. Report of Six Patients and Literature Revision.

Frontiers in pediatrics
2020

Nuclear Membrane Rupture and Its Consequences.

Annual review of cell and developmental biology
2020

Progress and trends in the development of therapies for Hutchinson-Gilford progeria syndrome.

Aging cell
2020

Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction.

Cells
2020

Hypopharyngeal Squamous Cell Carcinoma in Sisters with LMNA Associated Familial Partial Lipodystrophy: A Case Report and Review of the Literature.

The Annals of otology, rhinology, and laryngology
2020

Linking skeletal muscle aging with osteoporosis by lamin A/C deficiency.

PLoS biology
2020

Lamin A/C Mechanotransduction in Laminopathies.

Cells
2020

Consequences of Lmna Exon 4 Mutations in Myoblast Function.

Cells
2020

Genotype-phenotype analysis of LMNA-related diseases predicts phenotype-selective alterations in lamin phosphorylation.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2020

Can Circulating Cardiac Biomarkers Be Helpful in the Assessment of LMNA Mutation Carriers?

Journal of clinical medicine
2020

RNA Sequence Analyses throughout the Course of Mouse Cardiac Laminopathy Identify Differentially Expressed Genes for Cell Cycle Control and Mitochondrial Function.

Scientific reports
2020

Left-ventricular innervation assessed by 123I-SPECT/CT is associated with cardiac events in inherited arrhythmia syndromes.

International journal of cardiology
2020

Pulmonary vein isolation treats symptomatic AF in a patient with Lamin A/C mutation: case report and review of the literature.

Clinical research in cardiology : official journal of the German Cardiac Society
2020

Loss of an H3K9me anchor rescues laminopathy-linked changes in nuclear organization and muscle function in an Emery-Dreifuss muscular dystrophy model.

Genes & development
2019

Case reports of a c.475G>T, p.E159* lamin A/C mutation with a family history of conduction disorder, dilated cardiomyopathy and sudden cardiac death.

BMC cardiovascular disorders
2020

Emery-Dreifuss muscular dystrophy.

Muscle & nerve
2019

Databases to Efficiently Manage Medium Sized, Low Velocity, Multidimensional Data in Tissue Engineering.

Journal of visualized experiments : JoVE
2019

ERK1/2 Phosphorylation of FHOD Connects Signaling and Nuclear Positioning Alternations in Cardiac Laminopathy.

Developmental cell
2019

Lamin A/C Cardiomyopathy: Implications for Treatment.

Current cardiology reports
2019

Differences in cardiac phenotype and natural history of laminopathies with and without neuromuscular onset.

Orphanet journal of rare diseases
2020

Lysophosphatidic acid receptor LPA3 prevents oxidative stress and cellular senescence in Hutchinson-Gilford progeria syndrome.

Aging cell
2019

Chromatin compartment dynamics in a haploinsufficient model of cardiac laminopathy.

The Journal of cell biology
2019

Regulation of inner nuclear membrane associated protein degradation.

Nucleus (Austin, Tex.)
2019

A new laminopathy caused by an Arg133/Leu mutation in lamin A/C and the effects thereof on adipocyte differentiation and the transcriptome.

Adipocyte
2019

The K219T-Lamin mutation induces conduction defects through epigenetic inhibition of SCN5A in human cardiac laminopathy.

Nature communications
2019

Extraskeletal Calcifications in Hutchinson-Gilford Progeria Syndrome.

Bone
2019

Rare BANF1 Alleles and Relatively Frequent EMD Alleles Including 'Healthy Lipid' Emerin p.D149H in the ExAC Cohort.

Frontiers in cell and developmental biology
2019

Endoplasmic reticulum stress at the crossroads of progeria and atherosclerosis.

EMBO molecular medicine
2019

Emerin Is Required for Proper Nucleus Reassembly after Mitosis: Implications for New Pathogenetic Mechanisms for Laminopathies Detected in EDMD1 Patients.

Cells
2019

Deciphering Nuclear Mechanobiology in Laminopathy.

Cells
2019

Structural instability of lamin A tail domain modulates its assembly and higher order function in Emery-Dreifuss muscular dystrophy.

Biochemical and biophysical research communications
2019

Loss of CRWN Nuclear Proteins Induces Cell Death and Salicylic Acid Defense Signaling.

Plant physiology
2019

Hutchinson-Gilford Progeria Syndrome-Current Status and Prospects for Gene Therapy Treatment.

Cells
2018

Induced Pluripotent Stem Cells to Study Mechanisms of Laminopathies: Focus on Epigenetics.

Frontiers in cell and developmental biology
2019

A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes.

American journal of medical genetics. Part A
2019

Lamin A/C gene (LMNA) mutation associated with laminopathy: A rare cause of idiopathic acro-osteolysis.

Joint bone spine
2019

Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants.

European journal of human genetics : EJHG
2018

Modeling Skeletal Muscle Laminopathies Using Human Induced Pluripotent Stem Cells Carrying Pathogenic LMNA Mutations.

Frontiers in physiology
2019

Dissecting cellular mechanics: Implications for aging, cancer, and immunity.

Seminars in cell & developmental biology
2019

Cardiometabolic assessment of lamin A/C gene mutation carriers: a phenotype-genotype correlation.

Diabetes & metabolism
2019

Complex effects of laminopathy mutations on nuclear structure and function.

Clinical genetics
2019

Suppression of myopathic lamin mutations by muscle-specific activation of AMPK and modulation of downstream signaling.

Human molecular genetics
2018

A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy.

Human genome variation

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Laminopatia.

É de uma associação que acompanha esta doença? Fale com a gente →

Doença com base genética

Um médico geneticista pode ajudar no diagnóstico de Laminopatia e no aconselhamento genético da família.

Vai consultar um especialista? Confirme o registro dele no conselho.
Conselhos e sociedades

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Perguntas frequentes

O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu

Respostas geradas por IA a partir das fontes citadas

A condição é causada por mutações genéticas que afetam a formação das proteínas que compõem a lâmina nuclear. Entre os genes associados catalogados estão o LBR, o LMNB1, o EMD e o ZMPSTE24.

Referências

Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete

7 publicações do grafo RarasNet (PubMed) · 6 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.

  1. ORPHA:98301
    Orphanet
  2. GARD:19444
    GARD (NIH)
  3. Q3216770
    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.

Citar este verbete

Raras. (s.d.). Laminopatia. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/laminopatia

Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Laminopatia
Compêndio · Raras BR

Laminopatia

ORPHA:98301 · MONDO:0021106
Ensaios
3 ativos
Medicamentos
8 registrados
MedGen
UMLS
C5392094
EuropePMC
Wikidata
Papers 10a

📋 Origem dos dados

Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.

Doença rara (ontologia)
fonte: Orphanet
Identificador unificado
fonte: MONDO
Indexação biomédica
fonte: MeSH (NLM)
Dado público estruturado
fonte: Wikidata
Moléculas estudadas na doença
fonte: OpenTargets
Rara