Types of known<unk> es and other nuclear envelopathies Syndrome OMIM ID Symptoms Mutation in Identified in Atypical Werner syndrome Progeria with increased severity compared to normal Werner syndrome Lamin A/C 2003 Barraquer–Simons syndrome Lipodystrophy Lamin B2 2006 Buschke–Ollendorff syndrome Skeletal dysplasia, skin lesions LEM domain containing protein 3 (lamin-binding protein) 2004 Cardiomyopathy, dilated, with quadriceps myopathy Cardiomyopathy Lamin A/C 2003 Charcot–Marie–Tooth disease, axonal, type 2B1 Neuropathy Lamin A/C 2002 Emery–Dreifuss muscular dystrophy, X-linked (EDMD) Skeletal and cardiac muscular dystrophy Emerin (lamin-binding protein) 1996, 2000 Emery–Dreifuss muscular dystrophy, autosomal dominant (EDMD2) Skeletal and cardiac muscular dystrophy Lamin A/C 1999 Emery–Dreifuss muscular dystrophy, autosomal recessive (EDMD3) Skeletal and cardiac muscular dystrophy Lamin A/C 2000 Familial partial lipodystrophy of the Dunnigan type (FPLD) Lipoatrophic diabetes Lamin A/C 2002 Greenberg dysplasia Skeletal dysplasia Lamin B receptor 2003 Hutchinson–Gilford progeria syndrome (HGPS) Progeria Lamin A/C 2003 Leukodystrophy, demyelinating, adult-onset, autosomal dominant (ADLD) Progressive demyelinating disorder affecting the central nervous system Lamin B1 (tandem gene duplication) 2006 Limb-girdle muscular dystrophy type 1B (LGMD1B) Muscular dystrophy of hips and shoulders, cardiomyopathy Lamin A/C 2000 Lipoatrophy with diabetes, hepatic steatosis, hypertrophic cardiomyopathy, and leukomelanodermic papules (LDHCP) Lipoatrophic diabetes, fatty liver, hypertrophic cardiomyopathy, skin lesions Lamin A/C 2003 Mandibuloacral dysplasia with type A lipodystrophy (MADA) Dysplasia and lipodystrophy Lamin A/C 2002 Mandibuloacral dysplasia with type B lipodystrophy (MADB) Dysplasia and lipodystrophy Zinc metalloprotease STE24 (prelamin-processing enzyme) 2003 Pelger–Huet anomaly (PHA) Myelodysplasia Lamin B receptor 2002 Restrictive dermopathy, lethal Dermopathy Lamin A/C or Zinc metalloprotease STE24 (prelamin-processing enzyme) 2004
Laminopathy
Myopathy
Myelopathy
Osteopathy
Osteodystrophy
Arthropathy
Lipotoxicity
Osteopenia