Details of Disease | DrugMAP

General Information of Disease (ID: DISO2X4K)

Disease Name	Neuronopathy, distal hereditary motor, type 7A
Synonyms	Dhmnvp; HMN7A; Harper-Young myopathy; HMN 7A; spinal muscular atrophy, distal, with vocal cord paralysis; neuronopathy, distal hereditary motor, type VIIA; neuropathy, distal hereditary motor, type 7A; Dhmn7A; neuronopathy, distal hereditary motor caused by mutation in SLC5A7; SLC5A7 neuronopathy, distal hereditary motor
Definition	Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the SLC5A7 gene.
Disease Hierarchy	DISGS2ID: Distal hereditary motor neuropathy DISJW8SV: Distal hereditary motor neuropathy type 7 DISO2X4K: Neuronopathy, distal hereditary motor, type 7A
Disease Identifiers	MONDO ID MONDO_0008024 MESH ID C563562 UMLS CUI C1834703 OMIM ID 158580 MedGen ID 322474

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
SLC5A7	TTRV7W3	Strong	Biomarker	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC5A7	DTWI9TE	Strong	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC5A7	OTLZO8QS	Strong	Autosomal dominant	[2]
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References

1	Confirmation of SLC5A7-related distal hereditary motor neuropathy 7 in a family outside Wales.Clin Genet. 2018 Aug;94(2):274-275. doi: 10.1111/cge.13369. Epub 2018 May 21.
2	Defective presynaptic choline transport underlies hereditary motor neuropathy. Am J Hum Genet. 2012 Dec 7;91(6):1103-7. doi: 10.1016/j.ajhg.2012.09.019. Epub 2012 Nov 8.