Details of Disease

Disease Name

Distal hereditary motor neuropathy

distal spinal muscular atrophy; neuronopathy, distal hereditary motor; dSMA; dHMN

Disease Hierarchy

DISSYRHC: Hereditary peripheral neuropathy

DIS6XNI0: Hereditary motor neuron disease

DISGS2ID: Distal hereditary motor neuropathy

Disease Identifiers

MONDO ID

MONDO_0018894

MESH ID

D009134

UMLS CUI

C0393541

MedGen ID

98274

Orphanet ID

53739

SNOMED CT ID

230247001

General Information of Disease (ID: DISGS2ID)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 10 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
WARS1	OTWKTPGC	Limited	Autosomal dominant	[1]
GARS1	OT5B6R9Y	Limited	Genetic Variation	[4]
PLEKHG5	OTL0S21W	Limited	Biomarker	[5]
TBCE	OTGBSTKS	Limited	Genetic Variation	[6]
SMN2	OT54RLO1	Disputed	Therapeutic	[7]
FBXO38	OTSZ3768	Moderate	Autosomal dominant	[1]
DYNC1H1	OTD1KRKO	Strong	Genetic Variation	[8]
MAD2L1BP	OT2O2IUJ	Strong	Genetic Variation	[9]
BSCL2	OT73V6Y4	Definitive	Autosomal dominant	[1]
SETX	OTG3JNOQ	Definitive	Autosomal dominant	[1]
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⏷ Show the Full List of 10 DOT(s)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SMN1	TT8QL6X	Strong	Biomarker	[2]
TRPV4	TTKP2SU	Strong	Genetic Variation	[3]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
WARS1	DEPVE0M	Limited	Autosomal dominant	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
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	Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2.Neuromolecular Med. 2020 Mar;22(1):68-72. doi: 10.1007/s12017-019-08564-4. Epub 2019 Aug 29.
4	Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease.BMC Med Genet. 2014 Mar 26;15:36. doi: 10.1186/1471-2350-15-36.
5	The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. Am J Hum Genet. 2007 Jul;81(1):67-76. doi: 10.1086/518900. Epub 2007 May 16.
6	TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.Am J Hum Genet. 2016 Oct 6;99(4):974-983. doi: 10.1016/j.ajhg.2016.08.006. Epub 2016 Sep 22.
7	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.
8	Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development.J Child Neurol. 2017 Mar;32(4):379-386. doi: 10.1177/0883073816683083. Epub 2016 Dec 20.
9	The CMT2D locus: refined genetic position and construction of a bacterial clone-based physical map.Genome Res. 1999 Jun;9(6):568-74.