congenital generalized lipodystrophy type 2

Summary
Synonym
  • Berardinelli-Seip congenital lipodystrophy type 2
  • Berardinelli-Seip syndrome
  • Brunzell syndrome BSCL2-related
  • CGL2
  • congenital lipoatrophic diabetes
  • total lipodystrophy and acromegaloid gigantism
Definition
A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3.
Super Class
congenital generalized lipodystrophy
External Links
Disease Ontology
DOID:0111136
Mondo Disease Ontology
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 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

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