|
CGL3
MCID: LPD020
MIFTS: 38
|
Lipodystrophy, Congenital Generalized, Type 3 (CGL3)
Categories:
Endocrine diseases, Genetic diseases, Immune diseases, Metabolic diseases, Muscle diseases, Rare diseases, Skin diseases
|
|
|
|
MalaCards integrated aliases for Lipodystrophy, Congenital Generalized, Type 3:
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy one patient born of consanguineous brazilian parents has been reported (last curated march 2019) HPO:31
lipodystrophy, congenital generalized, type 3:
Inheritance autosomal recessive inheritance Onset and clinical course infantile onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Skin diseases Endocrine diseases Immune diseases Muscle diseases
ICD10:
32
|
|
OMIM :
56
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)
MalaCards based summary : Lipodystrophy, Congenital Generalized, Type 3, also known as congenital generalized lipodystrophy type 3, is related to mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome and congenital generalized lipodystrophy. An important gene associated with Lipodystrophy, Congenital Generalized, Type 3 is CAV1 (Caveolin 1), and among its related pathways/superpathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Glucose / Energy Metabolism. Affiliated tissues include adipocyte, and related phenotypes are splenomegaly and hepatomegaly 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 : 73 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. |
Human phenotypes related to Lipodystrophy, Congenital Generalized, Type 3:31 (show all 15)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:612526 |
|
|
MalaCards organs/tissues related to Lipodystrophy, Congenital Generalized, Type 3:40
Adipocyte
|
Articles related to Lipodystrophy, Congenital Generalized, Type 3:
|
Genes related to Lipodystrophy, Congenital Generalized, Type 3 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
|
ClinVar genetic disease variations for Lipodystrophy, Congenital Generalized, Type 3:6
|
|
Search
GEO
for disease gene expression data for Lipodystrophy, Congenital Generalized, Type 3.
|
Pathways related to Lipodystrophy, Congenital Generalized, Type 3 according to GeneCards Suite gene sharing:
|
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:(show all 11)
Molecular functions related to Lipodystrophy, Congenital Generalized, Type 3 according to GeneCards Suite gene sharing:
|
|