Lipodystrophy, congenital generalized, type 3

Preferred Label : Lipodystrophy, congenital generalized, type 3;

Symbol : CGL3;

CISMeF acronym : BSCL3; CGL3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Berardinelli-seip congenital lipodystrophy, type 3; BSCL3; Lipodystrophy, berardinelli-seip congenital, type 3;

Description : Congenital generalized lipodystrophy, also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes (Garg, 2004). For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (608594).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the caveolin 1 gene (CAV1, 601047.0001);

Laboratory abnormalities : Hypocalcemia; Hypercholesterolemia; Hypertriglyceridemia; Vitamin D resistance;

Prefixed ID : #612526;

Details

Origin ID

612526;

UMLS CUI

C2675861;

Automatic exact mappings (from CISMeF team)
- CAV1 wt Allele [NCIt concept]
- congenital generalized lipodystrophy type 3 [DO Concept]
Broader ORDO disease(s)
- Congenital generalized lipodystrophy [ORDO Disease]
Currated CISMeF NLP mapping
- lipodystrophy, congenital generalized, type 3 [MeSH concept]
- lipodystrophy, congenital generalized, type 3 [MeSH Supplementary Concept]
DO Cross reference
- congenital generalized lipodystrophy type 3 [DO Concept]
Genes related to phenotype
- Caveolin 1 [OMIM gene]
HPO term(s)
- Acanthosis nigricans [HPO term]
- Autosomal recessive inheritance [HPO term]
- Diabetes mellitus [HPO term]
- Generalized lipodystrophy [HPO term]
- Hepatic steatosis [HPO term]
- Hepatomegaly [HPO term]
- Hepatosplenomegaly [HPO term]
- Hirsutism [HPO term]
- Hypercholesterolemia [HPO term]
- Hypertriglyceridemia [HPO term]
- Hypocalcemia [HPO term]
- Infantile onset [HPO term]
- Insulin resistance [HPO term]
- Lipodystrophy [HPO term]
- Primary amenorrhea [HPO term]
- Reduced subcutaneous adipose tissue [HPO term]
- Short stature [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- Congenital generalized lipodystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- lipodystrophy, congenital generalized, type 3 [MeSH Supplementary Concept]
- lipodystrophy, congenital generalized, type 3 [MeSH concept]

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