Lipodystrophy, Congenital Generalized, Type 3

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OMIM 57 612526 Disease Ontology 12 DOID:0111137 ICD10 33 E88.1 MedGen 42 C2675861

MeSH 44 D052497 SNOMED-CT via HPO 69 258211005 73211009 48606007 402599005 72129000 399939002 197321007 442191002 36760000 5291005 13644009 166830008 248316006 237836003 71325002 more UMLS 73 C2675861

OMIM : ⁵⁷ 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). See also partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome (LCCNS; 606721), which is associated with heterozygous mutation in the CAV1 gene. (612526)

MalaCards based summary : Lipodystrophy, Congenital Generalized, Type 3, also known as bscl3, is related to congenital generalized lipodystrophy. An important gene associated with Lipodystrophy, Congenital Generalized, Type 3 is CAV1 (Caveolin 1). Related phenotypes are diabetes mellitus and insulin resistance

Disease Ontology : ¹² A congenital generalized lipodystrophy that has material basis in an autosomal recessive mutation of CAV1 on chromosome 7q31.2.

UniProtKB/Swiss-Prot : ⁷⁵ Congenital generalized lipodystrophy 3: An autosomal recessive disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes.

Clinical features from OMIM:

612526

Search Clinical Trials , NIH Clinical Center for Lipodystrophy, Congenital Generalized, Type 3

Search GEO for disease gene expression data for Lipodystrophy, Congenital Generalized, Type 3.