KEGG   DISEASE: Opitz-GBBB syndrome
Entry
H00583                      Disease                                

Name
Opitz-GBBB syndrome
Description
Opitz GBBB syndrome is a pleiotropic genetic disorder characterized by hypertelorism, hypospadias, and additional midline defects. This syndrome was originally described as two distinct entities, the BBB syndrome with cleft lip, palate and mental retardation, and the G-syndrome characterized by gastrointestinal anomalies. Subsequently, both syndromes were merged and reclassified as Opitz GBBB syndrome. There are two forms of Opitz GBBB syndrome, which are distinguished by their genetic causes and patterns of inheritance. The X-linked form is caused by a mutation in the gene MID1 that encodes an ubiquitin ligase that targets phosphatase 2A for degradation. Autosomal dominant form results from a deletion at chromosome 22q11.2.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00583  Opitz-GBBB syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H00583  Opitz-GBBB syndrome
Related
pathway
hsa04120  Ubiquitin mediated proteolysis
Gene
(GBBB1) MID1 [HSA:4281] [KO:K08285]
(GBBB2) SPECC1L [HSA:23384] [KO:K23028]
Other DBs
ICD-11: LD2F.1Y
ICD-10: Q87.8
MeSH: C567932 C538387
OMIM: 300000 145410
Reference
  Authors
Schweiger S, Schneider R
  Title
The MID1/PP2A complex: a key to the pathogenesis of Opitz BBB/G syndrome.
  Journal
Bioessays 25:356-66 (2003)
DOI:10.1002/bies.10256
Reference
  Authors
De Falco F, Cainarca S, Andolfi G, Ferrentino R, Berti C, Rodriguez Criado G, Rittinger O, Dennis N, Odent S, Rastogi A, Liebelt J, Chitayat D, Winter R, Jawanda H, Ballabio A, Franco B, Meroni G
  Title
X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum.
  Journal
Am J Med Genet A 120A:222-8 (2003)
DOI:10.1002/ajmg.a.10265
Reference
  Authors
Chiurazzi P, Schwartz CE, Gecz J, Neri G
  Title
XLMR genes: update 2007.
  Journal
Eur J Hum Genet 16:422-34 (2008)
DOI:10.1038/sj.ejhg.5201994
Reference
  Authors
Kruszka P, Li D, Harr MH, Wilson NR, Swarr D, McCormick EM, Chiavacci RM, Li M, Martinez AF, Hart RA, McDonald-McGinn DM, Deardorff MA, Falk MJ, Allanson JE, Hudson C, Johnson JP, Saadi I, Hakonarson H, Muenke M, Zackai EH
  Title
Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.
  Journal
J Med Genet 52:104-10 (2015)
DOI:10.1136/jmedgenet-2014-102677

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