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 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 11 - 20 of 36 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

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024