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Machado-Joseph disease

Summary
Synonym
  • Azorean disease
  • MJD
  • SCA3
  • spinocerebellar ataxia 3
  • spinocerebellar ataxia type 3
Definition
An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene.
Super Class
autosomal dominant cerebellar ataxia
Disease Ontology
DOID:1440
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
2673 GFPT1 glutamine--fructose-6-phosphate transaminase 1
4287 ATXN3 ataxin 3
6571 SLC18A2 solute carrier family 18 member A2
9945 GFPT2 glutamine-fructose-6-phosphate transaminase 2
Displaying all 3 entries
Gene ID Gene Symbol Description Source
14583 Gfpt1 glutamine fructose-6-phosphate transaminase 1
21823 Th tyrosine hydroxylase
214084 Slc18a2 solute carrier family 18 (vesicular monoamine), member 2
Displaying all 2 entries
Gene ID Gene Symbol Description Source
25085 Th tyrosine hydroxylase
25549 Slc18a2 solute carrier family 18 member A2
Displaying 1 entry
Gene ID Gene Symbol Description Source
42850 Atg6 Autophagy-related 6
Displaying 1 entry
Gene ID Gene Symbol Description Source
180837 cat-1 Major facilitator superfamily (MFS) profile domain-containing protein
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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

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Last updated: December 9, 2024