Details of Disease

General Information of Disease (ID: DISCOCGI)

Disease Name Scapuloperoneal spinal muscular atrophy, autosomal dominant
Synonyms amyotrophy, neurogenic scapuloperoneal, New England type; SPSMA; scapuloperoneal spinal muscular atrophy; neurogenic scapuloperoneal amyotrophy, New England type; scapuloperoneal neuronopathy
Disease Hierarchy
DISTLKOB: Spinal muscular atrophy
DIS6XNI0: Hereditary motor neuron disease
DIS3HIWD: Autosomal dominant disease
DISCOCGI: Scapuloperoneal spinal muscular atrophy, autosomal dominant
Disease Identifiers
MONDO ID
MONDO_0008408
MESH ID
D009134
UMLS CUI
C0751335
OMIM ID
181405
MedGen ID
148283
Orphanet ID
431255
SNOMED CT ID
230248006

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
TRPV4 TTKP2SU Limited Biomarker [1]
TRPV4 TTKP2SU Moderate Autosomal dominant [2]
SMN1 TT8QL6X Strong Biomarker [3]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TRPV4 OTPZKQLX Moderate Autosomal dominant [2]
SMN2 OT54RLO1 Strong Therapeutic [4]
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References

1 TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature.Neuromuscul Disord. 2016 Apr-May;26(4-5):312-5. doi: 10.1016/j.nmd.2016.02.010. Epub 2016 Feb 23.
2 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
3 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.
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.