KEGG DISEASE: ワールブルグ・ミクロ症候群

DISEASE: ワールブルグ・ミクロ症候群

エントリ

H00792                      Disease

名称

ワールブルグ・ミクロ症候群

概要

Warburg micro syndrome (WARBM) is a rare, autosomal recessive condition characterized by congenital microcephaly, mental retardation, microcornea, cataracts, hypotonic diplegia and hypothalamic hypogonadism. The neurological manifestations including corpus callosum hypoplasia, cortical dystrophy, and microphthalmia are severe in Warburg micro syndrome.

カテゴリ

先天奇形

階層分類

ICD-11 による疾患分類 [BR:jp08403]
20 発達異常
  多発性の発達異常または症候群
   LD20  主な特徴として中枢神経系の異常を伴う症候群
    H00792  ワールブルグ・ミクロ症候群

病因遺伝子

(WARBM1) RAB3GAP1 [HSA:22930] [KO:K18270]
(WARBM2) RAB3GAP2 [HSA:25782] [KO:K19937]
(WARBM3) RAB18 [HSA:22931] [KO:K07910]
(WARBM4) TBC1D20 [HSA:128637] [KO:K20372]

リンク

ICD-11:

LD20.1

MeSH:

C536681

OMIM:

600118 614225 614222 615663

文献

PMID:15216543

著者

Graham JM Jr, Hennekam R, Dobyns WB, Roeder E, Busch D

タイトル

MICRO syndrome: an entity distinct from COFS syndrome.

雑誌

Am J Med Genet A 128A:235-45 (2004)
DOI:10.1002/ajmg.a.30060

文献

PMID:20512159 (RAB3GAP1)

著者

Morris-Rosendahl DJ, Segel R, Born AP, Conrad C, Loeys B, Brooks SS, Muller L, Zeschnigk C, Botti C, Rabinowitz R, Uyanik G, Crocq MA, Kraus U, Degen I, Faes F

タイトル

New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.

雑誌

Eur J Hum Genet 18:1100-6 (2010)
DOI:10.1038/ejhg.2010.79

文献

PMID:20967465 (RAB3GAP2)

著者

Borck G, Wunram H, Steiert A, Volk AE, Korber F, Roters S, Herkenrath P, Wollnik B, Morris-Rosendahl DJ, Kubisch C

タイトル

A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.

雑誌

Hum Genet 129:45-50 (2011)
DOI:10.1007/s00439-010-0896-2

文献

PMID:21473985 (RAB18)

著者

Bem D, Yoshimura S, Nunes-Bastos R, Bond FC, Kurian MA, Rahman F, Handley MT, Hadzhiev Y, Masood I, Straatman-Iwanowska AA, Cullinane AR, McNeill A, Pasha SS, Kirby GA, Foster K, Ahmed Z, Morton JE, Williams D, Graham JM, Dobyns WB, Burglen L, Ainsworth JR, Gissen P, Muller F, Maher ER, Barr FA, Aligianis IA

タイトル

Loss-of-function mutations in RAB18 cause Warburg micro syndrome.

雑誌

Am J Hum Genet 88:499-507 (2011)
DOI:10.1016/j.ajhg.2011.03.012

文献

PMID:24239381 (TBC1D20)

著者

Liegel RP, Handley MT, Ronchetti A, Brown S, Langemeyer L, Linford A, Chang B, Morris-Rosendahl DJ, Carpanini S, Posmyk R, Harthill V, Sheridan E, Abdel-Salam GM, Terhal PA, Faravelli F, Accorsi P, Giordano L, Pinelli L, Hartmann B, Ebert AD, Barr FA, Aligianis IA, Sidjanin DJ

タイトル

Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans.

雑誌

Am J Hum Genet 93:1001-14 (2013)
DOI:10.1016/j.ajhg.2013.10.011

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