Details of Disease | DrugMAP

General Information of Disease (ID: DIS4M3WN)

Disease Name	Neuronopathy, distal hereditary motor, autosomal dominant
Synonyms	distal hereditary motor neuropathy, autosomal dominant; autosomal dominant distal spinal muscular atrophy; autosomal dominant distal hereditary motor neuropathy; autosomal dominant dHMN
Definition	Autosomal dominant form of distal hereditary motor neuropathy.
Disease Hierarchy	DISGS2ID: Distal hereditary motor neuropathy DISTLKOB: Spinal muscular atrophy DIS3HIWD: Autosomal dominant disease DIS4M3WN: Neuronopathy, distal hereditary motor, autosomal dominant
Disease Identifiers	MONDO ID MONDO_0015362 UMLS CUI C5548212 MedGen ID 1787720 Orphanet ID 140465 SNOMED CT ID 1156837002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HSPB8	TTY0OJN	Definitive	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HSPB8	OT0I83YS	Definitive	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.