Details of Disease | DrugMAP

General Information of Disease (ID: DISJW8SV)

Disease Name	Distal hereditary motor neuropathy type 7
Synonyms	distal spinal muscular atrophy with vocal cord paralysis; dHMN7
Definition	Distal hereditary motor neuropathy type 7 is a rare, slowly progressive genetic peripheral neuropathy characterized by distal atrophy and weakness affecting the upper limbs (with a predilection for the thenar eminence) and subsequently the lower limbs, associated with uni- or bilateral vocal cord paresis leading to hoarse voice and breathing difficulties, and facial weakness.
Disease Hierarchy	DIS4M3WN: Neuronopathy, distal hereditary motor, autosomal dominant DISJW8SV: Distal hereditary motor neuropathy type 7
Disease Identifiers	MONDO ID MONDO_0015355 UMLS CUI C4749653 MedGen ID 1662655 Orphanet ID 139589 SNOMED CT ID 771081007

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	Definitive	GermlineCausalMutation	[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	Supportive	Autosomal dominant	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DCTN1	OT5B51FJ	Supportive	Autosomal dominant	[2]
SLC5A7	OTLZO8QS	Supportive	Autosomal dominant	[1]
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References

1	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.
2	Mutant dynactin in motor neuron disease. Nat Genet. 2003 Apr;33(4):455-6. doi: 10.1038/ng1123. Epub 2003 Mar 10.