congenital generalized lipodystrophy type 4

Summary
Synonym
  • Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy
  • congenital generalised lipodystrophy type 4
  • generalised congenital lipodystrophy type 4
  • generalised congenital lipodystrophy with myopathy
  • generalized congenital lipodystrophy type 4
  • generalized congenital lipodystrophy with myopathy
Definition
A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2.
Super Class
congenital generalized lipodystrophy
External Links
Disease Ontology
DOID:0111138
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 1 - 10 of 28 in total
Gene ID Gene Symbol Description Source
178 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
523 ATP6V1A ATPase H+ transporting V1 subunit A
952 CD38 CD38 molecule
1650 DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit
2218 FKTN fukutin
2517 FUCA1 alpha-L-fucosidase 1
2719 GPC3 glypican 3
4023 LPL lipoprotein lipase
5105 PCK1 phosphoenolpyruvate carboxykinase 1
5130 PCYT1A phosphate cytidylyltransferase 1A, choline
Related Glycoprotein
Displaying entry 21 - 21 of 21 in total
UniProt ID Protein Name Source
Q9Y487 V-type proton ATPase 116 kDa subunit a 2
The Human Phenotype Ontology
Displaying entries 1 - 10 of 36 in total
HPO ID HPO Term
HP:0001263 Global developmental delay
HP:0008887 Adipose tissue loss
HP:0000842 Hyperinsulinemia
HP:0002155 Hypertriglyceridemia
HP:0000294 Low anterior hairline
HP:0003247 Overgrowth of external genitalia
HP:0000998 Hypertrichosis
HP:0012062 Bone cyst
HP:0001635 Congestive heart failure
HP:0000147 Polycystic ovaries
Displaying 1 entry
Gene ID Gene Symbol Description
10555 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2

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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