glycogen storage disease III

Summary
Synonym
  • Glycogen storage disease 3
  • Glycogen storage disease, type III
  • amylo 1,6 glucosidase deficiency
  • deficiency of debranching enzyme
  • deficiency of dextrin
Definition
A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21.
Super Class
autosomal recessive disease glycogen storage disease
External Links
Disease Ontology
DOID:2748
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 6 entries
Gene ID Gene Symbol Description Source
178 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
2538 G6PC1 glucose-6-phosphatase catalytic subunit 1
2548 GAA alpha glucosidase
2632 GBE1 1,4-alpha-glucan branching enzyme 1
2998 GYS2 glycogen synthase 2
5836 PYGL glycogen phosphorylase L
Displaying 1 entry
Gene ID Gene Symbol Description Source
856314 GDB1 bifunctional 4-alpha-glucanotransferase/amylo-alpha-1,6-glucosidase
The Human Phenotype Ontology
Displaying entries 11 - 20 of 24 in total
HPO ID HPO Term
HP:0011800 Midface retrusion
HP:0002240 Hepatomegaly
HP:0000219 Thin upper lip vermilion
HP:0003077 Hyperlipidemia
HP:0000490 Deeply set eye
HP:0001714 Ventricular hypertrophy
HP:0000007 Autosomal recessive inheritance
HP:0002910 Elevated circulating hepatic transaminase concentration
HP:0000455 Broad nasal tip
HP:0003693 Distal amyotrophy
Displaying 1 entry
Gene ID Gene Symbol Description
178 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase

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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