congenital generalized lipodystrophy

Summary
Definition
A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance.
Super Class
autosomal recessive disease complete generalized lipodystrophy physical disorder
Disease Ontology
DOID:0050585
Mondo Disease Ontology
OMIM
GARD
WikiPathways (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
5130 PCYT1A phosphate cytidylyltransferase 1A, choline
26580 BSCL2 BSCL2 lipid droplet biogenesis associated, seipin
Displaying 1 entry
Gene ID Gene Symbol Description Source
14705 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin
Displaying 1 entry
Gene ID Gene Symbol Description Source
361722 Bscl2 BSCL2 lipid droplet biogenesis associated, seipin
Displaying 1 entry
Gene ID Gene Symbol Description Source
353380 Y18H1A.11 choline-phosphate cytidylyltransferase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024