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CGL3
MCID: LPD020
MIFTS: 38
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Lipodystrophy, Congenital Generalized, Type 3 (CGL3)
Categories:
Cardiovascular diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Lipodystrophy, Congenital Generalized, Type 3:
Characteristics:Inheritance:
Autosomal recessive 57
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy one patient born of consanguineous brazilian parents has been reported (last curated march 2019) Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases Anatomical: Liver diseases Neuronal diseases Skin diseases Endocrine diseases Cardiovascular diseases Muscle diseases
ICD10:
31
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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). (612526) (Updated 08-Dec-2022) MalaCards based summary: Lipodystrophy, Congenital Generalized, Type 3, also known as congenital generalized lipodystrophy type 3, is related to congenital generalized lipodystrophy and lipodystrophy, familial partial, type 1. An important gene associated with Lipodystrophy, Congenital Generalized, Type 3 is CAV1 (Caveolin 1), and among its related pathways/superpathways are Cytoskeletal Signaling and Metabolism of nitric oxide: NOS3 activation and regulation. Affiliated tissues include adipocyte, and related phenotypes are diabetes mellitus and splenomegaly GARD: 19 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). UniProtKB/Swiss-Prot: 73 An autosomal recessive disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. Disease Ontology: 11 A congenital generalized lipodystrophy that has material basis in an autosomal recessive mutation of CAV1 on chromosome 7q31.2. |
Human phenotypes related to Lipodystrophy, Congenital Generalized, Type 3:30 (show all 15)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:612526 (Updated 08-Dec-2022) |
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Organs/tissues related to Lipodystrophy, Congenital Generalized, Type 3:
MalaCards :
Adipocyte
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Articles related to Lipodystrophy, Congenital Generalized, Type 3:(show all 18)
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Genes related to Lipodystrophy, Congenital Generalized, Type 3 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Lipodystrophy, Congenital Generalized, Type 3:5
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Search
GEO
for disease gene expression data for Lipodystrophy, Congenital Generalized, Type 3.
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Cellular components related to Lipodystrophy, Congenital Generalized, Type 3 according to GeneCards Suite gene sharing:
Biological processes related to Lipodystrophy, Congenital Generalized, Type 3 according to GeneCards Suite gene sharing:
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