congenital generalized lipodystrophy type 3

Summary
Synonym
  • Berardinelli-Seip congenital lipodystrophy type 3
Definition
A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2.
Super Class
congenital generalized lipodystrophy
External Links
Disease Ontology
DOID:0111137
Mondo Disease Ontology
OMIM
WikiPathways (from TogoID)
Related Genes
Displaying entries 21 - 28 of 28 in total
Gene ID Gene Symbol Description Source
10555 AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
11285 B4GALT7 beta-1,4-galactosyltransferase 7
22845 DOLK dolichol kinase
23175 LPIN1 lipin 1
23545 ATP6V0A2 ATPase H+ transporting V0 subunit a2
23583 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
57104 PNPLA2 patatin like phospholipase domain containing 2
64132 XYLT2 xylosyltransferase 2
The Human Phenotype Ontology
Displaying entries 21 - 30 of 36 in total
HPO ID HPO Term
HP:0000303 Mandibular prognathia
HP:0003712 Skeletal muscle hypertrophy
HP:0001015 Prominent superficial veins
HP:0009125 Lipodystrophy
HP:0001394 Cirrhosis
HP:0000855 Insulin resistance
HP:0002162 Low posterior hairline
HP:0011407 Proportionate tall stature
HP:0001249 Intellectual disability
HP:0008665 Clitoral hypertrophy
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