Lipodystrophy, familial partial, type 4

Preferred Label : Lipodystrophy, familial partial, type 4;

Symbol : FPLD4;

CISMeF acronym : FPLD4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Lipodystrophy, familial partial, associated with plin1 mutations;

Description : Familial partial lipodystrophy type 4 is an autosomal dominant metabolic disorder characterized by childhood or young adult onset of loss of subcutaneous adipose tissue primarily affecting the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension (summary by Gandotra et al., 2011).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the perilipin-1 gene (PLIN1, 170290.0001);

Laboratory abnormalities : Increased serum triglycerides;

Prefixed ID : #613877;

Details

Origin ID

613877;

UMLS CUI

C5191005;

Automatic exact mappings (from CISMeF team)
- Familial partial lipodystrophy associated with PLIN1 mutations [ICD-11 More detail]
- PLIN1-related familial partial lipodystrophy [ORDO Disease]
- Perilipin 1 related familial partial lipodystrophy (disorder) [SNOMED CT concept]
- familial partial lipodystrophy type 4 [DO Concept]
DO Cross reference
- familial partial lipodystrophy type 4 [DO Concept]
Genes related to phenotype
- Perilipin 1 [OMIM gene]
HPO term(s)
- Acanthosis nigricans [HPO term]
- Autosomal dominant inheritance [HPO term]
- Hepatic steatosis [HPO term]
- Hypertension [HPO term]
- Hypertriglyceridemia [HPO term]
- Insulin resistance [HPO term]
- Insulin-resistant diabetes mellitus [HPO term]
- Lipoatrophy [HPO term]
- Lipodystrophy [HPO term]
- Oligomenorrhea [HPO term]
- Skeletal muscle hypertrophy [HPO term]
- Stroke [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- PLIN1-related familial partial lipodystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Perilipin 1 related familial partial lipodystrophy (disorder) [SNOMED CT concept]

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