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LMNA - lamin A/C
- Synonym(s) : HGPS, MADA, mandibuloacral dysplasia type A
- Previous symbols and names : CMD1A, LGMD1B, LMN1, LMNL1, PRO1, cardiomyopathy, dilated 1A (autosomal dominant), lamin A/C-like 1, limb girdle muscular dystrophy 1B (autosomal dominant), progeria 1 (Hutchinson-Gilford type)
- Type : gene with protein product
- Chromosomal location : 1q22
- OMIM: 150330
- HGNC: 6636
- UniProtKB: P02545
- Genatlas: LMNA
- Ensembl: ENSG00000160789
- IUPHAR-DB: -
- Reactome: P02545
Diseases list
- Disease-causing germline mutation(s) in Atypical Werner syndrome
- Disease-causing germline mutation(s) in Autosomal dominant Emery-Dreifuss muscular dystrophy
- Disease-causing germline mutation(s) in Autosomal dominant limb-girdle muscular dystrophy type 1B
- Disease-causing germline mutation(s) in Autosomal recessive Emery-Dreifuss muscular dystrophy
- Disease-causing germline mutation(s) in Autosomal semi-dominant severe lipodystrophic laminopathy
- Disease-causing germline mutation(s) in Charcot-Marie-Tooth disease type 2B1
- Disease-causing germline mutation(s) in Congenital muscular dystrophy due to LMNA mutation
- Disease-causing germline mutation(s) in Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
- Disease-causing germline mutation(s) in Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
- Disease-causing germline mutation(s) in Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
- Disease-causing germline mutation(s) in Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
- Disease-causing germline mutation(s) in Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
- Disease-causing germline mutation(s) in Familial partial lipodystrophy, Dunnigan type
- Disease-causing germline mutation(s) in Heart-hand syndrome, Slovenian type
- Disease-causing germline mutation(s) in Hutchinson-Gilford progeria syndrome
- Disease-causing germline mutation(s) in Laminopathy type Decaudain-Vigouroux
- Disease-causing germline mutation(s) in LMNA-related cardiocutaneous progeria syndrome
- Disease-causing germline mutation(s) in Mandibuloacral dysplasia with type A lipodystrophy
- Disease-causing germline mutation(s) in Progeria-associated arthropathy
- Disease-causing germline mutation(s) in Restrictive dermopathy
- Major susceptibility factor in Left ventricular noncompaction
- Candidate gene tested in Familial partial lipodystrophy, Köbberling type
: AssessedAdditional information
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