Details of Disease | DrugMAP

General Information of Disease (ID: DIS4TP1G)

Disease Name	Hereditary sensory and autonomic neuropathy type 2
Synonyms	hereditary sensory neuropathy type 2; hereditary sensory radicular neuropathy, recessive form; Giaccai type acroosteolysis; neurogenic acroosteolysis; HSAN2; autosomal recessive sensory radicular neuropathy; hereditary sensory and autonomic neuropathy type II; Hereditary Sensory and Autonomic Neuropathy Type II
Definition	Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia.
Disease Hierarchy	DIS2VOAM: Hereditary sensory and autonomic neuropathy DIS4TP1G: Hereditary sensory and autonomic neuropathy type 2
Disease Identifiers	MONDO ID MONDO_0019941 MESH ID D009477 UMLS CUI C5574675 MedGen ID 1800880 Orphanet ID 970 SNOMED CT ID 398148000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
WNK1	OT4VYRY3	Supportive	Autosomal recessive	[1]
KIF1A	OT3JVEGV	Supportive	Autosomal recessive	[1]
RETREG1	OTYOSLZX	Supportive	Autosomal recessive	[1]
SCN9A	OTGSKLL8	Supportive	Autosomal recessive	[2]
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This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
WNK1	TTJ9UMX	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SCN9A	DTQC85B	Supportive	Autosomal recessive	[2]
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References

1	Hereditary Sensory and Autonomic Neuropathy Type II. 2010 Nov 23 [updated 2021 Apr 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
2	Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation. Neurology. 2013 Apr 30;80(18):1641-9. doi: 10.1212/WNL.0b013e3182904fdd. Epub 2013 Apr 17.