Previous symbols: LMN1, CMD1A, LGMD1B, PRO1, LMNL1. Aliases: HGPS, MADA.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| arrhythmogenic right ventricular cardiomyopathy | unknown germline | |
| Charcot-Marie-Tooth Disease Type 2 | causative |
mechanism: Nuclear Lamina Disruption
subtype: CMT2B1
scoped to subtype: CMT2B1
|
| Dilated Cardiomyopathy 1A | causative germline dominant negative |
mechanism: LMNA Variant and Nuclear Lamina Assembly Defect
|
| Emery-Dreifuss Muscular Dystrophy | causative |
mechanism: Impaired Mechanotransduction and Nuclear Mechanical Fragility; Nuclear Envelope and LINC Complex Dysfunction
subtype: EDMD2; EDMD3
scoped to subtype: EDMD2, EDMD3
|
| Familial Partial Lipodystrophy | causative germline |
mechanism: LMNA nuclear-lamina dysfunction and adipocyte loss (FPLD2)
subtype: FPLD2
scoped to subtype: FPLD2
|
| Dilated Cardiomyopathy |
untyped
Causative
|
mechanism: Sarcomeric and Cytoskeletal Dysfunction
|
| Familial Sick Sinus Syndrome |
untyped
Causative
|
|
| Heart Failure |
untyped
Causative
|
|
| Hutchinson-Gilford Progeria Syndrome |
untyped
Causal variant
|
mechanism: LMNA cryptic splice activation and progerin accumulation
|
| Mandibuloacral Dysplasia Type B | no genetic record |
mechanism: Defective Prelamin A Endoproteolytic Maturation
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| lipodystrophy MONDO:0006573 | SD | Definitive 2024-10-09 |
no dismech entry |
| dilated cardiomyopathy 1A MONDO:0007269 | AD | Definitive 2026-03-04 |
Dilated Cardiomyopathy 1A
causative
|
| arrhythmogenic right ventricular cardiomyopathy MONDO:0016587 | AD | Limited 2019-09-06 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.