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 1 - 10 of 29 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 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