Details of Disease | DrugMAP

General Information of Disease (ID: DISKMIAU)

Disease Name	Neuronopathy, distal hereditary motor, type 5C
Synonyms	DHMN5C; neuropathy, distal hereditary motor, type VC; HMN5C; spinal muscular atrophy, distal, type 5C
Definition	Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the BSCL2 gene.
Disease Hierarchy	DISTSHF6: Neuronopathy, distal hereditary motor, type 5 DISKMIAU: Neuronopathy, distal hereditary motor, type 5C
Disease Identifiers	MONDO ID MONDO_0030860 UMLS CUI C5436838 OMIM ID 619112 MedGen ID 1760720

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BSCL2	OT73V6Y4	Strong	Autosomal dominant	[1]
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References

1	The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype. Am J Hum Genet. 2001 Jul;69(1):209-15. doi: 10.1086/321267. Epub 2001 May 25.