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Autosomal semi-dominant severe lipodystrophic laminopathy

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: autosomal semi-dominant severe lipodystrophic laminopathy
SNOMED CT: Autosomal semi-dominant severe lipodystrophic laminopathy (1197747005)
Modes of inheritance:
Semidominant inheritance
MedGen UID:
Concept ID:
Genetic Function
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on chromosomes in which a trait can manifest in a monoallelic (e.g. heterozygotes) and biallelic (e.g. homozygotes, compound heterozygotes) state, with similar or differing phenotype severity present dependent on the number of alleles affected.
Monarch Initiative: MONDO:0017230
Orphanet: ORPHA280365


A rare familial partial lipodystrophy with characteristics of severe partial lipoatrophy affecting the limbs, trunk, and abdomen, together with faciocervical fat accumulation. Additional manifestations include diabetes, acanthosis nigricans, liver steatosis and hypertriglyceridaemia, as well as low serum leptin and adiponectin levels. Severe cardiac rhythm and conduction disturbances have also been reported. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Autosomal semi-dominant severe lipodystrophic laminopathy

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