Details of Disease | DrugMAP

General Information of Disease (ID: DISOPFSN)

Disease Name	Neuropathy, hereditary sensory, type 2C
Synonyms	neuropathy, hereditary sensory, type IIC; hereditary sensory neuropathy type 2C; HSN2C; hereditary sensory neuropathy type IIC; KIF1A hereditary sensory and autonomic neuropathy type 2; hereditary sensory and autonomic neuropathy type 2 caused by mutation in KIF1A
Definition	Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the KIF1A gene.
Disease Hierarchy	DISAVQN1: KIF1A related neurological disorder DIS4TP1G: Hereditary sensory and autonomic neuropathy type 2 DISOPFSN: Neuropathy, hereditary sensory, type 2C
Disease Identifiers	MONDO ID MONDO_0013634 UMLS CUI C3280168 OMIM ID 614213 MedGen ID 481798

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
KIF1A	OT3JVEGV	Definitive	Autosomal recessive	[1]
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References

1	KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2. Am J Hum Genet. 2011 Aug 12;89(2):219-30. doi: 10.1016/j.ajhg.2011.06.013. Epub 2011 Aug 4.