KEGG DISEASE: 末梢神経障害を伴うソルビトール脱水素酵素欠損症

DISEASE: 末梢神経障害を伴うソルビトール脱水素酵素欠損症

エントリ

H02567

名称

末梢神経障害を伴うソルビトール脱水素酵素欠損症

概要

Sorbitol dehydrogenase deficiency with peripheral neuropathy is an autosomal recessive neuropathy characterized by onset of distal muscle weakness mainly affecting the lower limbs. It is caused by biallelic mutations in SORD that encodes an enzyme that converts sorbitol into fructose.

カテゴリ

先天性代謝異常症

階層分類

ICD-11 による疾患分類 [BR:jp08403]
05 内分泌, 栄養, 代謝の疾患
  代謝疾患
   先天性代謝異常
    5C51  糖質代謝の先天性異常
     H02567  末梢神経障害を伴うソルビトール脱水素酵素欠損症

パスウェイ

hsa00051

Fructose and mannose metabolism

hsa00040

Pentose and glucuronate interconversions

病因遺伝子

SORD [HSA:6652] [KO:K00008]

リンク

ICD-11:

5C51.Y

OMIM:

618912

文献

PMID:32367058

著者

Cortese A, Zhu Y, Rebelo AP, Negri S, Courel S, Abreu L, Bacon CJ, Bai Y, Bis-Brewer DM, Bugiardini E, Buglo E, Danzi MC, Feely SME, Athanasiou-Fragkouli A, Haridy NA, Isasi R, Khan A, Laura M, Magri S, Pipis M, Pisciotta C, Powell E, Rossor AM, Saveri P, Sowden JE, Tozza S, Vandrovcova J, Dallman J, Grignani E, Marchioni E, Scherer SS, Tang B, Lin Z, Al-Ajmi A, Schule R, Synofzik M, Maisonobe T, Stojkovic T, Auer-Grumbach M, Abdelhamed MA, Hamed SA, Zhang R, Manganelli F, Santoro L, Taroni F, Pareyson D, Houlden H, Herrmann DN, Reilly MM, Shy ME, Zhai RG, Zuchner S

タイトル

Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.

雑誌

Nat Genet 52:473-481 (2020)
DOI:10.1038/s41588-020-0615-4

LinkDB

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