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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
- GenCC: LMNA
- Ensembl: ENSG00000160789
- IUPHAR-DB: -
- Reactome: P02545
- LOVD: LMNA
Diseases list
- Disease-causing germline mutation(s) in Atypical Werner syndrome
ORPHA:79474 
- Disease-causing germline mutation(s) in Autosomal dominant Emery-Dreifuss muscular dystrophy
ORPHA:98853 - Disease-causing germline mutation(s) in Autosomal recessive Emery-Dreifuss muscular dystrophy
ORPHA:98855 - Disease-causing germline mutation(s) in Autosomal semi-dominant severe lipodystrophic laminopathy
ORPHA:280365 - Disease-causing germline mutation(s) in Charcot-Marie-Tooth disease type 2B1
ORPHA:98856 - Disease-causing germline mutation(s) in Congenital muscular dystrophy due to LMNA mutation
ORPHA:157973 - Disease-causing germline mutation(s) in Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
ORPHA:2229 - Disease-causing germline mutation(s) in Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
ORPHA:300751 - Disease-causing germline mutation(s) in Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
ORPHA:293899 - Disease-causing germline mutation(s) in Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
ORPHA:293888 - Disease-causing germline mutation(s) in Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
ORPHA:293910 - Disease-causing germline mutation(s) in Familial isolated dilated cardiomyopathy
ORPHA:154 - Disease-causing germline mutation(s) in Familial partial lipodystrophy, Dunnigan type
ORPHA:2348 - Disease-causing germline mutation(s) in Heart-hand syndrome, Slovenian type
ORPHA:168796 - Disease-causing germline mutation(s) in Hutchinson-Gilford progeria syndrome
ORPHA:740 - Disease-causing germline mutation(s) in LMNA-related cardiocutaneous progeria syndrome
ORPHA:363618 - Disease-causing germline mutation(s) in Mandibuloacral dysplasia with type A lipodystrophy
ORPHA:90153 - Disease-causing germline mutation(s) in Restrictive dermopathy
ORPHA:1662 - Major susceptibility factor in Left ventricular noncompaction
ORPHA:54260 - Candidate gene tested in Familial partial lipodystrophy, Köbberling type
ORPHA:79084
: AssessedAdditional information
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