List of Known Laminopathies and Other Nuclear Envelopathies
| Syndrome | OMIM ID | Symptoms | Mutation in | Identified in |
|---|---|---|---|---|
| Atypical Werner syndrome | 277700 | Progeria with increased severity compared to normal Werner syndrome | Lamin A/C | 2003 |
| Barraquer-Simons syndrome | 608709 | Lipodystrophy | Lamin B | 2006 |
| Buschke-Ollendorff syndrome | 166700 | Skeletal dysplasia, skin lesions | LEM domain containing protein 3 (lamin-binding protein) | 2004 |
| Cardiomyopathy, dilated, with quadriceps myopathy | 607920 | Cardiomyopathy | Lamin A/C | 2003 |
| Charcot-Marie-Tooth disease, axonal, type 2B1 | 605588 | Neuropathy | Lamin A/C | 2002 |
| Emery-Dreifuss muscular dystrophy, X-linked (EDMD) | 310300 | Skeletal and cardiac muscular dystrophy | Emerin (lamin-binding protein) | 1996, 2000 |
| Emery-Dreifuss muscular dystrophy, autosomal dominant (EDMD2) | 181350 | Skeletal and cardiac muscular dystrophy | Lamin A/C | 1999 |
| Emery-Dreifuss muscular dystrophy, autosomal recessive (EDMD3) | 604929 | Skeletal and cardiac muscular dystrophy | Lamin A/C | 2000 |
| Familial partial lipodystrophy of the Dunnigan type (FPLD) | 151660 | Lipoatrophic diabetes | Lamin A/C | 2002 |
| Greenberg dysplasia | 215140 | Skeletal dysplasia | Lamin B receptor | 2003 |
| Hutchinson-Gilford progeria syndrome (HGPS) | 176670 | Progeria | Lamin A/C | 2003 |
| Leukodystrophy, demyelinating, adult-onset, autosomal dominant (ADLD) | 169500 | Progressive demyelinating disorder affecting the central nervous system | Lamin B (tandem gene duplication) | 2006 |
| Limb-girdle muscular dystrophy type 1B (LGMD1B) | 159001 | Muscular dystrophy of hips and shoulders, cardiomyopathy | Lamin A/C | 2000 |
| Lipoatrophy with diabetes, hepatic steatosis, hypertrophic cardiomyopathy, and leukomelanodermic papules (LDHCP) | 608056 | Lipoatrophic diabetes, fatty liver, hypertrophic cardiomyopathy, skin lesions | Lamin A/C | 2003 |
| Mandibuloacral dysplasia with type A lipodystrophy (MADA) | 248370 | Dysplasia and lipodystrophy | Lamin A/C | 2002 |
| Mandibuloacral dysplasia with type B lipodystrophy (MADB) | 608612 | Dysplasia and lipodystrophy | Zinc metalloprotease STE24 (prelamin-processing enzyme) | 2003 |
| Pelger-Huet anomaly (PHA) | 169400 | Myelodysplasia | Lamin B receptor | 2002 |
| Pelizaeus-Merzbacher disease, adult-onset, autosomal dominant | 169500 | Leukodystrophy | Lamin B | 2006 |
| Tight skin contracture syndrome, lethal | 275210 | Dermopathy | Lamin A/C or Zinc metalloprotease STE24 (prelamin-processing enzyme) | 2004 |
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