Table 2.
Affected tissue/phenotype | Disease | Full name/description | OMIM code |
---|---|---|---|
Muscle | EDMD2 | Autosomal-dominant Emery–Dreifuss muscular dystrophy | #181350 |
EDMD3 | Autosomal-recessive Emery–Dreifuss muscular dystrophy | #604929 | |
LGMD1B | Limb girdle muscular dystrophy type 1B | #159001 | |
CMD1A | Dilated cardiomyopathy 1A | #115200 | |
CCD | Cardiac and conduction defect | ||
AD-SMA | Autosomal-dominant spinal muscular atrophy | ||
LAF | Lone atrial fibrillation | ||
Generalized muscular dystrophy and/or cardiomyopathy phenotype | |||
dropped head syndrome | |||
Fat | FPLD1 | Familiar partial lipodystrophy TYPE 1 | #608600 |
FPLD2 | Familiar partial lipodystrophy TYPE 2 | #151600 | |
Generalized lipodystrophy phenotype | |||
Neuronal | CMT2B1 | Charcot-Marie-Tooth type 2B1 | #605588 |
Generalized neuropathy phenotype | |||
Multisystem | MADA | Mandibuloacral dysplasia | #248370 |
RD | Restrictive dermopathy | #176670 | |
Generalized metabolic syndrome phenotype | |||
Slovenian type heart-hand syndrome | |||
Premature aging | HGPS | Hutchinson–Gilford progeria syndrome | #176670 |
WRN-like | Atypical Werner syndrome | #277700 | |
LIRLLC/LDHCP | Generalized lipoatrophy, insulin-resistant diabetes, disseminated leuko-melanodermic papules | #608056 | |
Liver steatosis and cardiomyopathy |
aList of human genetic diseases and disorders caused by mutations in the LMNA gene, classified by type of tissue affected (see also [151])