CGL4
MCID: LPD035
MIFTS: 46
|
Lipodystrophy, Congenital Generalized, Type 4 (CGL4)
Categories:
Cardiovascular diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases
|
|
|
MalaCards integrated aliases for Lipodystrophy, Congenital Generalized, Type 4:
Characteristics:Inheritance:
Autosomal recessive 57
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy or early childhood sudden death due to cardiac arrhythmia may occur Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases Anatomical: Muscle diseases Liver diseases Neuronal diseases Skin diseases Endocrine diseases Cardiovascular diseases
ICD10:
31
|
OMIM®: 57 Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy (608594) with muscular dystrophy and cardiac conduction anomalies (Hayashi et al., 2009). For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (608594). (613327) (Updated 08-Dec-2022) MalaCards based summary: Lipodystrophy, Congenital Generalized, Type 4, also known as congenital generalized lipodystrophy type 4, is related to lipodystrophy, congenital generalized, type 1 and berardinelli-seip congenital lipodystrophy, and has symptoms including constipation, myalgia and generalized muscle weakness. An important gene associated with Lipodystrophy, Congenital Generalized, Type 4 is CAVIN1 (Caveolae Associated Protein 1), and among its related pathways/superpathways are PDGFR-alpha signaling pathway and Congenital generalized lipodystrophy. Affiliated tissues include skeletal muscle, smooth muscle and liver, and related phenotypes are hirsutism and scoliosis UniProtKB/Swiss-Prot: 73 A disorder characterized by the association of congenital generalized lipodystrophy with muscular dystrophy and cardiac anomalies. Congenital generalized lipodystrophy is characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. GARD: 19 A rare syndrome characterized by almost complete absence of body fat, accentuated muscularity, insulin-resistant diabetes, hyperlipidemia, hepatomegaly, and hypermetabolism. Disease Ontology: 11 A congenital generalized lipodystrophy that has material basis in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2. |
Human phenotypes related to Lipodystrophy, Congenital Generalized, Type 4:30 (show all 44)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:613327 (Updated 08-Dec-2022)UMLS symptoms related to Lipodystrophy, Congenital Generalized, Type 4:constipation; myalgia; generalized muscle weakness; muscular stiffness |
|
Organs/tissues related to Lipodystrophy, Congenital Generalized, Type 4:
MalaCards :
Skeletal Muscle,
Smooth Muscle,
Liver
|
Articles related to Lipodystrophy, Congenital Generalized, Type 4:(show all 35)
|
ClinVar genetic disease variations for Lipodystrophy, Congenital Generalized, Type 4:5 (show top 50) (show all 73)
|
Search
GEO
for disease gene expression data for Lipodystrophy, Congenital Generalized, Type 4.
|
Cellular components related to Lipodystrophy, Congenital Generalized, Type 4 according to GeneCards Suite gene sharing:
Biological processes related to Lipodystrophy, Congenital Generalized, Type 4 according to GeneCards Suite gene sharing:(show all 11)
Molecular functions related to Lipodystrophy, Congenital Generalized, Type 4 according to GeneCards Suite gene sharing:
|
|