KEGG   DISEASE: Opitz-GBBB syndrome
H00583                      Disease                                

Opitz-GBBB syndrome
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.
Congenital malformation
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
hsa04120  Ubiquitin mediated proteolysis
(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
Schweiger S, Schneider R
The MID1/PP2A complex: a key to the pathogenesis of Opitz BBB/G syndrome.
Bioessays 25:356-66 (2003)
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
X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum.
Am J Med Genet A 120A:222-8 (2003)
Chiurazzi P, Schwartz CE, Gecz J, Neri G
XLMR genes: update 2007.
Eur J Hum Genet 16:422-34 (2008)
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
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.
J Med Genet 52:104-10 (2015)

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