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AKT2-related familial partial lipodystrophy

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: AKT serine/threonine kinase 2-related familial partial lipodystrophy; AKT2-related FPLD; familial partial lipodystrophy due to AKT2 mutations
SNOMED CT: AKT serine/threonine kinase 2-related familial partial lipodystrophy (1197746001); AKT2-related familial partial lipodystrophy (1197746001)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Monarch Initiative: MONDO:0019192
Orphanet: ORPHA79085


A rare familial partial lipodystrophy with characteristics of adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAKT2-related familial partial lipodystrophy

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