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
External Links
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
411 ARSB arylsulfatase B
2673 GFPT1 glutamine--fructose-6-phosphate transaminase 1
5320 PLA2G2A phospholipase A2 group IIA
9945 GFPT2 glutamine-fructose-6-phosphate transaminase 2
Related Glycoprotein
Displaying all 2 entries
UniProt ID Protein Name Source
P14555 Phospholipase A2, membrane associated
P15848 Arylsulfatase B

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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