KEGG DISEASE: 眼瞼裂狭小・精神遅滞症候群

DISEASE: 眼瞼裂狭小・精神遅滞症候群

エントリ

H01795

名称

眼瞼裂狭小・精神遅滞症候群

下位グループ

3p- 症候群
ヤング・シンプソン症候群 (SBBYS) [DS:H01793]
X-linked Ohdo syndrome (OHDOX)

概要

Blepharophimosis-mental retardation syndromes (BMRS) include a group of clinically and etiologically heterogeneous conditions, which can occur as isolated features or as part of distinct disorders displaying multiple congenital anomalies. The majority of syndromic patients with blepharophimosis show a variable degree of mental retardation. In 1986, Ohdo et al. delineated a syndrome of blepharophimosis, ptosis, hypoplastic teeth, heart defect, and mental handicap, to which his name was attached. Subsequently, several cases have been reported as Ohdo/Ohdo-like syndrome, widening the spectrum of clinical findings of BMRS, which lately were classified into five subtypes by Verloes et al: (1) del(3p) syndrome; (2) BMRS, Ohdo type; (3) BMRS, SBBYS (Say-Barber/Biesecker/Young-Simpson) type [DS:H01793]; (4) BMRS, MKB (Maat-Kievit-Brunner) type/ X-linked Ohdo syndrome (OHDOX); (5) BMRS, Verloes type. BMR may also be found in relatively nonspecific developmental anomalies and in unclassified individuals, further widening the etiology of BMR disorders.

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
    H01795  眼瞼裂狭小・精神遅滞症候群

病因遺伝子

(SBBYS) KAT6B [HSA:23522] [KO:K11306]
(OHDOX) MED12 [HSA:9968] [KO:K15162]

リンク

ICD-11:

LD2F.1Y

OMIM:

613792 300895

文献

PMID:16700052

著者

Verloes A, Bremond-Gignac D, Isidor B, David A, Baumann C, Leroy MA, Stevens R, Gillerot Y, Heron D, Heron B, Benzacken B, Lacombe D, Brunner H, Bitoun P

タイトル

Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.

雑誌

Am J Med Genet A 140:1285-96 (2006)
DOI:10.1002/ajmg.a.31270

文献

PMID:21567902

著者

Dentici ML, Mingarelli R, Dallapiccola B

タイトル

The difficult nosology of blepharophimosis-mental retardation syndromes: report on two siblings.

雑誌

Am J Med Genet A 155A:459-65 (2011)
DOI:10.1002/ajmg.a.33642

文献

PMID:17696125

著者

Malmgren H, Sahlen S, Wide K, Lundvall M, Blennow E

タイトル

Distal 3p deletion syndrome: detailed molecular cytogenetic and clinical characterization of three small distal deletions and review.

雑誌

Am J Med Genet A 143A:2143-9 (2007)
DOI:10.1002/ajmg.a.31902

文献

PMID:22077973 (SBBYS)

著者

Clayton-Smith J, O'Sullivan J, Daly S, Bhaskar S, Day R, Anderson B, Voss AK, Thomas T, Biesecker LG, Smith P, Fryer A, Chandler KE, Kerr B, Tassabehji M, Lynch SA, Krajewska-Walasek M, McKee S, Smith J, Sweeney E, Mansour S, Mohammed S, Donnai D, Black G

タイトル

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.

雑誌

Am J Hum Genet 89:675-81 (2011)
DOI:10.1016/j.ajhg.2011.10.008

文献

PMID:23395478 (OHDOX)

著者

Vulto-van Silfhout AT, de Vries BB, van Bon BW, Hoischen A, Ruiterkamp-Versteeg M, Gilissen C, Gao F, van Zwam M, Harteveld CL, van Essen AJ, Hamel BC, Kleefstra T, Willemsen MA, Yntema HG, van Bokhoven H, Brunner HG, Boyer TG, de Brouwer AP

タイトル

Mutations in MED12 cause X-linked Ohdo syndrome.

雑誌

Am J Hum Genet 92:401-6 (2013)
DOI:10.1016/j.ajhg.2013.01.007

LinkDB

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