Details of Disease | DrugMAP

General Information of Disease (ID: DISD3JAD)

Disease Name	Neuronopathy, distal hereditary motor, type 5A
Synonyms	distal spinal muscular atrophy type 5; distal hereditary motor neuropathy type V; spinal muscular atrophy, distal, type 5; neuronopathy, distal hereditary motor, type 5; dHMN5; distal HMN V; HMN 5A; HMN5A; neuronopathy, distal hereditary motor, type 5A; spinal muscular atrophy, distal, with upper limb predominance; neuronopathy, distal hereditary motor, type VA; neuropathy, distal hereditary motor, type 5A; spinal muscular atrophy, distal, type 5A; dHMN 5A
Disease Hierarchy	DISTSHF6: Neuronopathy, distal hereditary motor, type 5 DISD3JAD: Neuronopathy, distal hereditary motor, type 5A
Disease Identifiers	MONDO ID MONDO_0015353 UMLS CUI C5399969 OMIM ID 600794 MedGen ID 1723540

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BSCL2	OT73V6Y4	Supportive	Autosomal dominant	[1]
REEP1	OTEMVFX7	Supportive	Autosomal dominant	[2]
GARS1	OT5B6R9Y	Definitive	Autosomal dominant	[3]
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References

1	Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet. 2004 Mar;36(3):271-6. doi: 10.1038/ng1313. Epub 2004 Feb 22.
2	Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. Am J Hum Genet. 2012 Jul 13;91(1):139-45. doi: 10.1016/j.ajhg.2012.05.007. Epub 2012 Jun 14.
3	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.