A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina.
| Disease | ID | Subtypes | Genes |
|---|---|---|---|
| Familial partial lipodystrophy | MONDO:0020088 | 11 | |
| Autosomal dominant Emery-Dreifuss muscular dystrophy | MONDO:0020336 | 4 | |
| X-linked Emery-Dreifuss muscular dystrophy | MONDO:0010680 | 3 | EMD |
| Adult-onset autosomal dominant demyelinating leukodystrophy | MONDO:0008215 | 2 | |
| Buschke-Ollendorff syndrome | MONDO:0008157 | LEMD3 | |
| Charcot-Marie-Tooth disease type 2B1 | MONDO:0011569 | LMNA | |
| Emery-Dreifuss muscular dystrophy 3, autosomal recessive | MONDO:0014676 | LMNA | |
| Greenberg dysplasia | MONDO:0008974 | LBR | |
| Hutchinson-Gilford progeria syndrome | MONDO:0008310 | LMNA | |
| Pelger-Huet anomaly | MONDO:0008214 | LBR | |
| Atypical Werner syndrome | MONDO:0019321 | ||
| Mandibuloacral dysplasia with type A lipodystrophy | MONDO:0009557 | LMNA | |
| Mandibuloacral dysplasia with type B lipodystrophy | MONDO:0012074 | ZMPSTE24 | |
| Restrictive dermopathy 1 | MONDO:0800042 | ZMPSTE24 |
Including projects on subtypes.
No projects yet.