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ADIPOQ
No data
Diseases
Familial Generalized Lipodystrophy
familial generalized lipodystrophy
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
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Core Information
- Disease Name
- Familial Generalized Lipodystrophy
- Standard Disease Name
- familial generalized lipodystrophy
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- D052497
- OMIM ID
- MTHU002034|MTHU042895
- UMLS ID
- C0221032
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:A genetic disorder caused by mutations in the AGPAT2 and BSCL2 genes. It is characterized by lipoatrophy in the trunk, face, and extremities, hypertriglyceridemia, muscle hypertrophy, cardiomyopathy and hepatomegaly. Patients develop insulin resistance, leading to diabetes mellitus.|MSH2017_2016_08_12:Congenital disorders, usually autosomal recessive, characterized by severe generalized lack of ADIPOSE TISSUE, extreme INSULIN RESISTANCE, and HYPERTRIGLYCERIDEMIA.|JABL99:The concurrence of generalized loss of body fat, diabetes mellitus, hepatomegaly, acanthosis nigricans, enlarged external genitalia, and increased rate of skeletal growth. This and Kobberling-Dunnigan syndrome share many common characteristics.|HPO2016_07_04:Generalized degenerative changes of the fat tissue. [HPO:curators]
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