Details of Disease | DrugMAP

General Information of Disease (ID: DISFP4J8)

Disease Name	Neuropathy, hereditary sensory, type 1F
Synonyms	HSN 1F; neuropathy, hereditary sensory, type IF; hereditary sensory neuropathy type 1F; hereditary sensory and autonomic neuropathy type 1 caused by mutation in ATL3; HSN1F; neuropathy, hereditary sensory, type 1F; ATL3 hereditary sensory and autonomic neuropathy type 1; hereditary sensory neuropathy type IF
Definition	Any hereditary sensory and autonomic neuropathy type 1 in which the cause of the disease is a mutation in the ATL3 gene.
Disease Hierarchy	DISLSPO4: Hereditary sensory and autonomic neuropathy type 1 DISFP4J8: Neuropathy, hereditary sensory, type 1F
Disease Identifiers	MONDO ID MONDO_0014286 UMLS CUI C3810194 OMIM ID 615632 MedGen ID 816524

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
ATL3	OTQVFKMV	Strong	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3. Brain. 2014 Mar;137(Pt 3):683-92. doi: 10.1093/brain/awt357. Epub 2014 Jan 22.