glycogen storage disease IV

Summary
Synonym
  • Amylopectinosis
  • Branching-transferase deficiency glycogenosis
  • Glycogen storage disease 4
  • Glycogen storage disease, type IV
  • brancher deficiency glycogenosis
  • deficiency of 1,4-alpha-glucan branching enzyme
Definition
A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GBE1 gene, which encodes the glycogen branching enzyme, on chromosome 3p12.
Super Class
autosomal recessive disease glycogen storage disease
External Links
Disease Ontology
DOID:2750
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 9 entries
Gene ID Gene Symbol Description Source
353 APRT adenine phosphoribosyltransferase
2026 ENO2 enolase 2
2538 G6PC1 glucose-6-phosphatase catalytic subunit 1
2548 GAA alpha glucosidase
2632 GBE1 1,4-alpha-glucan branching enzyme 1
3612 IMPA1 inositol monophosphatase 1
5213 PFKM phosphofructokinase, muscle
5836 PYGL glycogen phosphorylase L
5837 PYGM glycogen phosphorylase, muscle associated
Displaying 1 entry
Gene ID Gene Symbol Description Source
74185 Gbe1 1,4-alpha-glucan branching enzyme 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
856705 GLC3 1,4-alpha-glucan branching enzyme
The Human Phenotype Ontology
Displaying entries 11 - 20 of 23 in total
HPO ID HPO Term
HP:0001558 Decreased fetal movement
HP:0000007 Autosomal recessive inheritance
HP:0001662 Bradycardia
HP:0001399 Hepatic failure
HP:0002804 Arthrogryposis multiplex congenita
HP:0001315 Reduced tendon reflexes
HP:0001541 Ascites
HP:0005576 Tubulointerstitial fibrosis
HP:0001371 Flexion contracture
HP:0001561 Polyhydramnios
Displaying 1 entry
Gene ID Gene Symbol Description
2632 GBE1 1,4-alpha-glucan branching enzyme 1

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