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CGL4
MCID: LPD035
MIFTS: 51
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Lipodystrophy, Congenital Generalized, Type 4 (CGL4)
Categories:
Endocrine diseases, Genetic diseases, Muscle diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Lipodystrophy, Congenital Generalized, Type 4:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy or early childhood sudden death due to cardiac arrhythmia may occur HPO:32
lipodystrophy, congenital generalized, type 4:
Onset and clinical course infantile onset Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Skin diseases Endocrine diseases Muscle diseases
ICD10:
33
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UniProtKB/Swiss-Prot
:
75
Congenital generalized lipodystrophy 4: 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.
MalaCards based summary : Lipodystrophy, Congenital Generalized, Type 4, also known as cgl4, is related to lipodystrophy, congenital generalized, type 1 and congenital generalized lipodystrophy, and has symptoms including constipation, generalized muscle weakness and myalgia. An important gene associated with Lipodystrophy, Congenital Generalized, Type 4 is CAVIN1 (Caveolae Associated Protein 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 liver, skin and smooth muscle, and related phenotypes are osteopenia and failure to thrive Disease Ontology : 12 A congenital generalized lipodystrophy that has material basis in an autosomal recessive mutation of PTRF on chromosome 17q21.2. 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) |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:613327Human phenotypes related to Lipodystrophy, Congenital Generalized, Type 4:32 (show all 39)
UMLS symptoms related to Lipodystrophy, Congenital Generalized, Type 4:constipation, generalized muscle weakness, myalgia, muscular stiffness GenomeRNAi Phenotypes related to Lipodystrophy, Congenital Generalized, Type 4 according to GeneCards Suite gene sharing:26
MGI Mouse Phenotypes related to Lipodystrophy, Congenital Generalized, Type 4:46 (show all 15)
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MalaCards organs/tissues related to Lipodystrophy, Congenital Generalized, Type 4:41
Liver,
Skin,
Smooth Muscle,
Skeletal Muscle
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Articles related to Lipodystrophy, Congenital Generalized, Type 4:
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Genes related to Lipodystrophy, Congenital Generalized, Type 4 (1 elite genes):(show all 17) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Lipodystrophy, Congenital Generalized, Type 4:6 (show all 12)
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Search
GEO
for disease gene expression data for Lipodystrophy, Congenital Generalized, Type 4.
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Pathways related to Lipodystrophy, Congenital Generalized, Type 4 according to GeneCards Suite gene sharing:
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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 22)
Molecular functions related to Lipodystrophy, Congenital Generalized, Type 4 according to GeneCards Suite gene sharing:
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