Barth syndrome

Summary
Synonym
  • 3-methylglutaconicaciduria type 2
  • 3-methylglutaconicaciduria type II
  • MGA Type 2
  • MGA type II
Definition
A 3-methylglutaconic aciduria that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin.
Super Class
3-methylglutaconic aciduria X-linked recessive disease
Disease Ontology
DOID:0050476
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4232 MEST mesoderm specific transcript
Displaying 1 entry
Gene ID Gene Symbol Description Source
17294 Mest mesoderm specific transcript
Displaying 1 entry
Gene ID Gene Symbol Description Source
58827 Mest mesoderm specific transcript

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 v4.1.0

Last updated: December 9, 2024