beta-mannosidosis

Summary
Synonym
  • Beta-D-mannosidosis
  • beta-mannosidase deficiency
  • lysosomal beta-mannosidase deficiency
Definition
A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism.
Super Class
lysosomal storage disease
External Links
Disease Ontology
DOID:3633
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
4126 MANBA mannosidase beta
6448 SGSH N-sulfoglucosamine sulfohydrolase
Displaying 1 entry
Gene ID Gene Symbol Description Source
110173 Manba mannosidase, beta A, lysosomal
Displaying 1 entry
Gene ID Gene Symbol Description Source
310864 Manba mannosidase beta
Displaying 1 entry
Gene ID Gene Symbol Description Source
181517 C33G3.4 putative beta-mannosidase
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 18 in total
HPO ID HPO Term
HP:0001999 Abnormal facial shape
HP:0001249 Intellectual disability
HP:0005247 Hypoplasia of the abdominal wall musculature
HP:0000365 Hearing impairment
HP:0002205 Recurrent respiratory infections
HP:0001250 Seizure
HP:0012066 Increased urinary disaccharide excretion
HP:0000718 Aggressive behavior
HP:0002167 Abnormality of speech or vocalization
HP:0001290 Generalized hypotonia
Displaying 1 entry
Gene ID Gene Symbol Description
4126 MANBA mannosidase beta

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