Kennedy's disease

Summary
Synonym
  • Kennedy disease
  • SBMA
  • Spinobulbar Muscular Atrophy
  • X-Linked Bulbo-Spinal Atrophy
  • X-linked Spinal and Bulbar Muscular Atrophy
  • spinal bulbar muscular atrophy
Definition
A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor.
Super Class
X-linked recessive disease spinal muscular atrophy
External Links
Disease Ontology
DOID:0060161
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 5 entries
Gene ID Gene Symbol Description Source
2597 GAPDH glyceraldehyde-3-phosphate dehydrogenase
2674 GFRA1 GDNF family receptor alpha 1
3939 LDHA lactate dehydrogenase A
5621 PRNP prion protein (Kanno blood group)
253782 CERS6 ceramide synthase 6

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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