familial partial lipodystrophy

Summary
Synonym
  • Dunnigan Syndrome
  • Koberling-Dunnigan Syndrome
Definition
A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life.
Super Class
partial lipodystrophy
External Links
Disease Ontology
DOID:0050440
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
178 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
4023 LPL lipoprotein lipase
10555 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
Related Glycoprotein
Displaying all 2 entries
UniProt ID Protein Name Source
P06858 Lipoprotein lipase
P35573 Glycogen debranching enzyme

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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: August 19, 2024