KEGG DISEASE: Bohring-Opitz syndrome

KEGG

DISEASE: Bohring-Opitz syndrome

Entry

H02047                      Disease

Name

Bohring-Opitz syndrome

Description

Bohring-Opitz syndrome (BOPS) is characterized by trigonocephaly and associated anomalies, such as unusual facies, psychomotor retardation, redundant skin, joint and limb abnormalities, and visceral anomalies. BOPS is considered the more severe form of the C syndrome [DS:H01008], therefore known as C-like syndrome. Recently, It has been reported that de novo nonsense mutations in ASXL1 cause BOPS.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H02047  Bohring-Opitz syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06523  Epigenetic regulation by Polycomb complexes
   H02047  Bohring-Opitz syndrome

Network

nt06523 Epigenetic regulation by Polycomb complexes

Gene

ASXL1 [HSA:171023] [KO:K11471]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Bohring A, Oudesluijs GG, Grange DK, Zampino G, Thierry P

Title

New cases of Bohring-Opitz syndrome, update, and critical review of the literature.

Journal

Am J Med Genet A 140:1257-63 (2006)
DOI:10.1002/ajmg.a.31265

Reference

Authors

Hoischen A, van Bon BW, Rodriguez-Santiago B, Gilissen C, Vissers LE, de Vries P, Janssen I, van Lier B, Hastings R, Smithson SF, Newbury-Ecob R, Kjaergaard S, Goodship J, McGowan R, Bartholdi D, Rauch A, Peippo M, Cobben JM, Wieczorek D, Gillessen-Kaesbach G, Veltman JA, Brunner HG, de Vries BB

Title

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.

Journal

Nat Genet 43:729-31 (2011)
DOI:10.1038/ng.868

LinkDB

» Japanese version

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