Lipodystrophy, familial partial, type 3

Preferred Label : Lipodystrophy, familial partial, type 3;

Symbol : FPLD3;

CISMeF acronym : FPLD3;

Type : Phenotype, molecular basis known;

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

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the peroxisome proliferator-activated receptor-gamma gene (PPARG, 601487.0007);

Laboratory abnormalities : Hyperglycemia; Increased serum triglycerides; Decreased HDL cholesterol; Hyperuricemia;

Prefixed ID : #604367;

Details

Origin ID

604367;

UMLS CUI

C1720861;

Automatic exact mappings (from CISMeF team)
- Familial partial lipodystrophy associated with PPARG mutations [ICD-11 More detail]
- lipodystrophy, familial partial [MeSH Descriptor]
Currated CISMeF NLP mapping
- PPARG-related familial partial lipodystrophy [ORDO Disease]
- Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) [SNOMED CT concept]
- familial partial lipodystrophy type 3 [DO Concept]
- familial partial lipodystrophy, type 3 [MeSH concept]
DO Cross reference
- familial partial lipodystrophy type 3 [DO Concept]
Genes related to phenotype
- Peroxisome proliferator-activated receptor-gamma [OMIM gene]
HPO term(s)
- Acanthosis nigricans [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cirrhosis [HPO term]
- Decreased HDL cholesterol concentration [HPO term]
- Hepatic steatosis [HPO term]
- Hirsutism [HPO term]
- Hyperglycemia [HPO term]
- Hyperinsulinemia [HPO term]
- Hypertension [HPO term]
- Hypertriglyceridemia [HPO term]
- Hyperuricemia [HPO term]
- Insulin resistance [HPO term]
- Insulin-resistant diabetes mellitus [HPO term]
- Juvenile onset [HPO term]
- Lipodystrophy [HPO term]
- Loss of gluteal subcutaneous adipose tissue [HPO term]
- Loss of subcutaneous adipose tissue in limbs [HPO term]
- Maternal diabetes [HPO term]
- Oligomenorrhea [HPO term]
- Polycystic ovaries [HPO term]
- Preeclampsia [HPO term]
- Primary amenorrhea [HPO term]
- Prominent superficial veins [HPO term]
- Reduced subcutaneous adipose tissue [HPO term]
- Type II diabetes mellitus [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- PPARG-related familial partial lipodystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- PPARG-related familial partial lipodystrophy [ORDO Disease]
- Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) [SNOMED CT concept]
- familial partial lipodystrophy type 3 [DO Concept]
- familial partial lipodystrophy, type 3 [MeSH concept]

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