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Herb Integrative Database
Traditional Medicine Data Platform
Diseases

Familial Generalized Lipodystrophy

familial generalized lipodystrophy

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Entity Type
Diseases
Relation Groups
3
Relation Preview
24

Basic Information

Grouped by core information, identifiers, and descriptions.

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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]