congenital generalized lipodystrophy type 1

Summary
Synonym
  • Berardinelli-Seip Congenital Lipodystrophy, Type 1
  • Brunzell syndrome AGPAT2-related
Definition
A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3.
Super Class
congenital generalized lipodystrophy
External Links
Disease Ontology
DOID:0111135
Mondo Disease Ontology
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 21 - 29 of 29 in total
Gene ID Gene Symbol Description Source
10554 AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1
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
Related Glycoprotein
Displaying entries 21 - 22 of 22 in total
UniProt ID Protein Name Source
Q9UGN5 Poly [ADP-ribose] polymerase 2
Q9Y487 V-type proton ATPase 116 kDa subunit a 2
The Human Phenotype Ontology
Displaying entries 11 - 20 of 60 in total
HPO ID HPO Term
HP:0001833 Long foot
HP:0000336 Prominent supraorbital ridges
HP:0005616 Accelerated skeletal maturation
HP:0001176 Large hands
HP:0010465 Precocious puberty in females
HP:0001397 Hepatic steatosis
HP:0000876 Oligomenorrhea
HP:0002240 Hepatomegaly
HP:0000141 Amenorrhea
HP:0001639 Hypertrophic cardiomyopathy
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