Neuropathy, hereditary sensory and autonomic, type IId(HSAN2D)

MedGen UID:: 860491
•Concept ID:: C4012054
•: Disease or Syndrome

Synonyms:	HSAN2D; NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID

Monarch Initiative:	MONDO:0800304
OMIM®:	243000; 603415

Recent clinical studies

Etiology

Molecular genetic analysis in 21 Chinese families with congenital insensitivity to pain with or without anhidrosis.

Zhao F, Mao B, Geng X, Ren X, Wang Y, Guan Y, Li S, Li L, Zhang S, You Y, Cao Y, Yang T, Zhao X
Eur J Neurol 2020 Aug;27(8):1697-1705. Epub 2020 Apr 28 doi: 10.1111/ene.14234. PMID: 32219930

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Diagnosis

Hereditary sensory and autonomic neuropathy type IID caused by an SCN9A mutation.

Yuan J, Matsuura E, Higuchi Y, Hashiguchi A, Nakamura T, Nozuma S, Sakiyama Y, Yoshimura A, Izumo S, Takashima H
Neurology 2013 Apr 30;80(18):1641-9. Epub 2013 Apr 17 doi: 10.1212/WNL.0b013e3182904fdd. PMID: 23596073

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Neuropathy, hereditary sensory and autonomic, type IId(HSAN2D)

Recent clinical studies

Etiology

Diagnosis

Supplemental Content

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