acatalasia

Summary
Synonym
  • acatalasemia
  • deficiency of catalase
Definition
A peroxisomal disease characterized by loss of catalase activity in erythrocytes that has_material_basis_in homozygous mutation in the CAT gene on chromosome 11p13.
Super Class
peroxisomal disease
External Links
Disease Ontology
DOID:2582
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
847 CAT catalase
6888 TALDO1 transaldolase 1
Related Glycoprotein
Displaying all 2 entries
UniProt ID Protein Name Source
P04040 Catalase
P37837 Transaldolase
The Human Phenotype Ontology
Displaying entries 1 - 10 of 17 in total
HPO ID HPO Term
HP:0002634 Arteriosclerosis
HP:0100758 Gangrene
HP:0000230 Gingivitis
HP:0012531 Pain
HP:0000166 Severe periodontitis
HP:0006357 Premature loss of permanent teeth
HP:0100651 Type I diabetes mellitus
HP:0001300 Parkinsonism
HP:0000155 Oral ulcer
HP:0005978 Type II diabetes mellitus
Displaying 1 entry
Gene ID Gene Symbol Description
847 CAT catalase

About Release Notes Help Feedback

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