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
The Human Phenotype Ontology
Displaying entries 31 - 36 of 36 in total
HPO ID HPO Term
HP:0000819 Diabetes mellitus
HP:0001999 Abnormal facial shape
HP:0000158 Macroglossia
HP:0001508 Failure to thrive
HP:0003124 Hypercholesterolemia
HP:0000956 Acanthosis nigricans
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