Congenital Generalized Lipodystrophy (GCL)

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Disease Ontology 12 DOID:0050585 KEGG 38 H00419

EFO 17 EFO_1000681 UMLS 74 C0011859 C0221032 C1720860 C1720863 more

NIH Rare Diseases : ⁵⁴ Congenital generalized lipodystrophy is a rare disease characterized by a generalized lack of fat (adipose tissue) in the body. It is part of a group of diseases known as lipodystrophies. Signs and symptoms are noticed from birth (congenital) or early childhood and include high levels of fats (triglycerides) in the blood (hypertriglyceridemia) and insulin resistance (in which the body tissues are unable to respond to the hormone insulin that helps to regulate blood sugar levels) resulting in diabetes mellitus, abnormal accumulation of fat in the liver (liver steatosis) and the accumulation of fat in the heart causing a thickening of the heart muscle (hypertrophic cardiomyopathy), which can lead to a heart that does not work well (heart failure) and sudden death. Due to the almost total absence of fatty tissue and excessive growth of muscle tissue, the patients appear very muscular and have visible and prominent veins. They also have dark and thick skin in the body folds (acanthosis nigricans).  There are 4 types of the disease that are distinguished by the altered (mutated) genes and by some additional characteristic symptoms. People with type 1, caused by mutations in the AGPAT2 gene, may have cysts in the long bones of the arms and the legs after puberty. In type 2, which is caused by mutations in the BSCL2  gene, there may be intellectual disability. In type 3, caused by mutations in the CAV1 gene, affected people may have short stature and growth delay. Type 4, caused by mutations in the CAVIN1 gene, is associated with muscle weakness, developmental delay, joint anomalies, narrowing of the lower part of the stomach (pyloric stenosis), and severe heart arrhythmia that can lead to sudden death.  The inheritance of Berardinelli-Seip congenital lipodystrophy is autosomal recessive. Treatment consists on a fat restricted diet and diabetes control, and may also include leptin administration. 

MalaCards based summary : Congenital Generalized Lipodystrophy, also known as berardinelli-seip congenital lipodystrophy, is related to lipodystrophy, congenital generalized, type 2 and lipodystrophy, congenital generalized, type 4, and has symptoms including myalgia An important gene associated with Congenital Generalized Lipodystrophy is AGPAT2 (1-Acylglycerol-3-Phosphate O-Acyltransferase 2), and among its related pathways/superpathways are Cytoskeletal Signaling and HIF-1-alpha transcription factor network. The drugs Insulin, Globin Zinc and insulin have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and skin, and related phenotypes are behavior/neurological and cellular

Disease Ontology : ¹² A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance and has material basis in mutation in the AGPAT2, BSCL2, CAV1 or PTRF genes.

Genetics Home Reference : ²⁶ Congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) is a rare condition characterized by an almost total lack of fatty (adipose) tissue in the body and a very muscular appearance. Adipose tissue is found in many parts of the body, including beneath the skin and surrounding the internal organs. It stores fat for energy and also provides cushioning. Congenital generalized lipodystrophy is part of a group of related disorders known as lipodystrophies, which are all characterized by a loss of adipose tissue. A shortage of adipose tissue leads to the storage of fat elsewhere in the body, such as in the liver and muscles, which causes serious health problems.

Wikipedia : ⁷⁷ Congenital generalized lipodystrophy (also known as Berardinelli–Seip syndrome) is an extremely rare... more...

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