KEGG DISEASE: Peripheral neuropathy, myopathy, hoarseness, and hearing loss

DISEASE: Peripheral neuropathy, myopathy, hoarseness, and hearing loss

エントリ

H02817

名称

Peripheral neuropathy, myopathy, hoarseness, and hearing loss

概要

Peripheral neuropathy, myopathy, hoarseness, and hearing loss (PNMHH) is a rare autosomal dominant neuromuscular disorder with complex phenotypes. A mutation in MYH14 gene, which encodes a member of the nonmuscle myosin heavy-chain II family, has been reported in the families of this disease.

カテゴリ

神経系疾患

階層分類

ICD-11 による疾患分類 [BR:jp08403]
08 神経系の疾患
  神経根, 神経叢または末梢神経の疾患
   遺伝性ニューロパチー
    8C20  遺伝性運動及び感覚性ニューロパチー
     H02817  Peripheral neuropathy, myopathy, hoarseness, and hearing loss

病因遺伝子

MYH14 [HSA:79784] [KO:K10352]

リンク

ICD-11:

8C20.Y

OMIM:

614369

文献

PMID:21480433

著者

Choi BO, Kang SH, Hyun YS, Kanwal S, Park SW, Koo H, Kim SB, Choi YC, Yoo JH, Kim JW, Park KD, Choi KG, Kim SJ, Zuchner S, Chung KW

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