Details of Disease

General Information of Disease (ID: DISRL4MG)

Disease Name Bulbospinal muscular atrophy
Synonyms SBMA; spinal-bulbar muscular atrophy; bulbospinal muscular atrophy; spinal and bulbal muscular atrophy
Disease Hierarchy
DISTLKOB: Spinal muscular atrophy
DISRL4MG: Bulbospinal muscular atrophy
Disease Identifiers
MONDO ID
MONDO_0016113
MESH ID
D009134
UMLS CUI
C0393547
MedGen ID
95977
Orphanet ID
206701
SNOMED CT ID
230253001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
AR TTKPW01 Strong Biomarker [1]
SMN1 TT8QL6X Strong Biomarker [2]
TRPV4 TTKP2SU Strong Biomarker [3]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SMN2 OT54RLO1 Strong Therapeutic [4]
------------------------------------------------------------------------------------

References

1 Central nervous system abnormalities in spinal and bulbar muscular atrophy (Kennedy's disease).Clin Neurol Neurosurg. 2019 Sep;184:105426. doi: 10.1016/j.clineuro.2019.105426. Epub 2019 Jul 20.
2 Oxidative Stress Triggers Body-Wide Skipping of Multiple Exons of the Spinal Muscular Atrophy Gene. PLoS One. 2016 Apr 25;11(4):e0154390. doi: 10.1371/journal.pone.0154390. eCollection 2016.
3 Axonal neuropathy-associated TRPV4 regulates neurotrophic factor-derived axonal growth.J Biol Chem. 2012 Feb 17;287(8):6014-24. doi: 10.1074/jbc.M111.316315. Epub 2011 Dec 20.
4 Disruption of the Survival Motor Neuron (SMN) gene in pigs using ssDNA.Transgenic Res. 2011 Dec;20(6):1293-304. doi: 10.1007/s11248-011-9496-8. Epub 2011 Feb 25.