KEGG DISEASE: 鰓弓耳腎症候群

DISEASE: 鰓弓耳腎症候群

エントリ

H00453

名称

鰓弓耳腎症候群;
BOR 症候群

下位グループ

BO 症候群

概要

Branchio-oto-renal (BOR) syndrome and Branchiootic (BO) syndrome show overlapping phenotypes of bilateral conductive hearing loss, branchial defects, and facial abnormalities. Individuals with BOR syndrome have renal anomalies as well. Mutations in the EYA1 or its transcription cofactor SIX1 and SIX5 are responsible for the diseases.

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
   LD2F  多発性の構造異常を伴う症候群, 主な体系の関与を伴わないもの
    H00453  鰓弓耳腎症候群
指定難病 [jp08407.html]
H00453

病因遺伝子

(BOR1/BO1) EYA1 [HSA:2138] [KO:K15616]
(BOR2) SIX5 [HSA:147912] [KO:K19474]
(BO3) SIX1 [HSA:6495] [KO:K15614]

リンク

ICD-11:

LD2F.1Y

MeSH:

D019280

OMIM:

113650 602588 610896 608389

文献

PMID:8558563

著者

Dallapiccola B, Mingarelli R

タイトル

Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome.

雑誌

J Med Genet 32:816-8 (1995)
DOI:10.1136/jmg.32.10.816

文献

PMID:11409867

著者

Rickard S, Parker M, van't Hoff W, Barnicoat A, Russell-Eggitt I, Winter RM, Bitner-Glindzicz M

タイトル

Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM.

雑誌

Hum Genet 108:398-403 (2001)
DOI:10.1007/s004390100495

文献

PMID:17637804 (EYA1, SIX1)

著者

Sanggaard KM, Rendtorff ND, Kjaer KW, Eiberg H, Johnsen T, Gimsing S, Dyrmose J, Nielsen KO, Lage K, Tranebjaerg L

タイトル

Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses.

雑誌

Eur J Hum Genet 15:1121-31 (2007)
DOI:10.1038/sj.ejhg.5201900

文献

PMID:17357085 (SIX5)

著者

Hoskins BE, Cramer CH, Silvius D, Zou D, Raymond RM, Orten DJ, Kimberling WJ, Smith RJ, Weil D, Petit C, Otto EA, Xu PX, Hildebrandt F

タイトル

Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.

雑誌

Am J Hum Genet 80:800-4 (2007)
DOI:10.1086/513322

文献

PMID:15141091 (SIX1)

著者

Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, Kumar S, Neuhaus TJ, Kemper MJ, Raymond RM Jr, Brophy PD, Berkman J, Gattas M, Hyland V, Ruf EM, Schwartz C, Chang EH, Smith RJ, Stratakis CA, Weil D, Petit C, Hildebrandt F

タイトル

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.

雑誌

Proc Natl Acad Sci U S A 101:8090-5 (2004)
DOI:10.1073/pnas.0308475101

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