MCID: OPT048
MIFTS: 41

Opitz-Gbbb Syndrome

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Opitz-Gbbb Syndrome

MalaCards integrated aliases for Opitz-Gbbb Syndrome:

Name: Opitz-Gbbb Syndrome 12 36 14
Opitz G/bbb Syndrome 12 49 24 55 28
Opitz-Frias Syndrome 49 24 55
Hypospadias-Dysphagia Syndrome 24 55
Opitz-G Syndrome, Type 2 49 69
Opitz Syndrome 24 55
Hypertelorism with Esophageal Abnormalities and Hypospadias 24
Hypertelorism-Oesophageal Abnormality-Hypospadias Syndrome 55
Hypertelorism with Esophageal Abnormality and Hypospadias 49
Telecanthus with Associated Abnormalities 49
Hypertelorism Hypospadias Syndrome 49
Hypospadias-Hypertelorism Syndrome 55
Hypertelorism-Hypospadias Sydrome 24
Hypospadias-Dysphagia, Syndrome 49
Opitz Gbbb Syndrome, X-Linked 69
Opitz G Syndrome, Type Ii 13
Opitz Bbb/g Syndrome 24
Opitz Bbbg Syndrome 49
Opitz Bbb Syndrome 24
Opitz G Syndrome 24
Gbbb Syndrome 49
Bbb Syndrome 49
G Syndrome 49

Characteristics:

Orphanet epidemiological data:

55
opitz g/bbb syndrome
Inheritance: Autosomal dominant,X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age;

Classifications:



Summaries for Opitz-Gbbb Syndrome

NIH Rare Diseases : 49 Opitz G/BBB syndrome is an inherited condition that affects several structures along the midline of the body. The most common features are wide-spaced eyes and defects of the larynx, trachea, and/or esophagus causing breathing problems and difficulty swallowing. Affected males usually have a urethra opening on the underside of the penis (hypospadias). Other features can include mild intellectual disability, cleft lip and/or a cleft palate, heart defects, an obstruction of the anal opening (imperforate anus), agenesis of the corpus callosum, and facial abnormalities. These features may vary, even among members of the same family.There are two forms of Opitz G/BBB syndrome, which are distinguished by their genetic causes and patterns of inheritance. The X-linked form is caused by mutations in the MID1 gene. Autosomal dominant Opitz G/BBB syndrome is caused by a deletion of 22q11.2, and is often referred to as 22q11.2 deletion syndrome. Treatment depends on the individual’s specific needs. Last updated: 11/14/2016

MalaCards based summary : Opitz-Gbbb Syndrome, also known as opitz g/bbb syndrome, is related to opitz gbbb syndrome, type ii and opitz gbbb syndrome, type i, and has symptoms including hypospadias, cleft palate and large fontanelles. An important gene associated with Opitz-Gbbb Syndrome is SPECC1L (Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1 Like), and among its related pathways/superpathways are Ubiquitin mediated proteolysis and Lysine degradation. Affiliated tissues include eye, trachea and heart.

Disease Ontology : 12 A monogenic disease that is characterized by hypertelorism, hypospadias, and additional midline defects resulting from mutations to the MID1 gene in the X-linked form or from a deletion on chromosome 22q11.2 in the autosomal dominant form.

Genetics Home Reference : 24 Opitz G/BBB syndrome is a genetic condition that causes several abnormalities along the midline of the body. "G/BBB" represents the first letters of the last names of the families first diagnosed with this disorder and "Opitz" is the last name of the doctor who first described the signs and symptoms. There are two forms of Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome and autosomal dominant Opitz G/BBB syndrome. The two forms are distinguished by their genetic causes and patterns of inheritance. The signs and symptoms of the two forms are generally the same.

Related Diseases for Opitz-Gbbb Syndrome

Graphical network of the top 20 diseases related to Opitz-Gbbb Syndrome:



Diseases related to Opitz-Gbbb Syndrome

Symptoms & Phenotypes for Opitz-Gbbb Syndrome

Human phenotypes related to Opitz-Gbbb Syndrome:

55 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypospadias 55 31 hallmark (90%) Very frequent (99-80%) HP:0000047
2 cleft palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000175
3 large fontanelles 55 31 occasional (7.5%) Occasional (29-5%) HP:0000239
4 epicanthus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000286
5 hypertelorism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000316
6 low-set ears 55 31 occasional (7.5%) Occasional (29-5%) HP:0000369
7 sensorineural hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000407
8 wide nasal bridge 55 31 hallmark (90%) Very frequent (99-80%) HP:0000431
9 anteverted nares 55 31 hallmark (90%) Very frequent (99-80%) HP:0000463
10 downslanted palpebral fissures 55 31 occasional (7.5%) Occasional (29-5%) HP:0000494
11 telecanthus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000506
12 abnormality of the pharynx 55 31 hallmark (90%) Very frequent (99-80%) HP:0000600
13 hypodontia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000668
14 pectus excavatum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000767
15 pectus carinatum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000768
16 intellectual disability 55 31 frequent (33%) Frequent (79-30%) HP:0001249
17 global developmental delay 55 31 frequent (33%) Frequent (79-30%) HP:0001263
18 abnormality of the voice 55 31 frequent (33%) Frequent (79-30%) HP:0001608
19 respiratory insufficiency 55 31 frequent (33%) Frequent (79-30%) HP:0002093
20 prominent metopic ridge 55 31 occasional (7.5%) Occasional (29-5%) HP:0005487
21 increased number of teeth 55 31 occasional (7.5%) Occasional (29-5%) HP:0011069
22 prominent forehead 55 31 frequent (33%) Frequent (79-30%) HP:0011220
23 oral cleft 55 Occasional (29-5%)

Drugs & Therapeutics for Opitz-Gbbb Syndrome

Search Clinical Trials , NIH Clinical Center for Opitz-Gbbb Syndrome

Genetic Tests for Opitz-Gbbb Syndrome

Genetic tests related to Opitz-Gbbb Syndrome:

# Genetic test Affiliating Genes
1 Opitz G/bbb Syndrome 28 SPECC1L

Anatomical Context for Opitz-Gbbb Syndrome

MalaCards organs/tissues related to Opitz-Gbbb Syndrome:

38
Eye, Trachea, Heart

Publications for Opitz-Gbbb Syndrome

Articles related to Opitz-Gbbb Syndrome:

(show all 34)
# Title Authors Year
1
Successful use of ultrasound-guided caudal catheter in a child with a very low termination of dural sac and Opitz-GBBB syndrome: a case report. ( 26239147 )
2015
2
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. ( 25412741 )
2015
3
R368X mutation in MID1 among recurrent mutations in patients with X-linked Opitz G/BBB syndrome. ( 25304119 )
2014
4
Prenatal diagnosis of maternally inherited X-linked Opitz G/BBB syndrome by chromosomal microarray in a fetus with complex congenital heart disease. ( 24863803 )
2014
5
A novel mutation in MID1 in a patient with X-linked Opitz G/BBB syndrome. ( 24374473 )
2014
6
Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations. ( 23791568 )
2013
7
Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome. ( 23354372 )
2013
8
A MID1 gene mutation in a patient with Opitz G/BBB syndrome that altered the 3D structure of SPRY domain. ( 22407675 )
2012
9
Congenital diaphragmatic hernia is a feature of Opitz G/BBB syndrome. ( 20823703 )
2010
10
Case of polyhydramnios complicated by Opitz G/BBB syndrome. ( 20666962 )
2010
11
A MID1 mutation associated with reduced penetrance of X-linked Opitz G/BBB syndrome. ( 20671548 )
2010
12
MID1 mutations in patients with X-linked Opitz G/BBB syndrome. ( 18360914 )
2008
13
Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation. ( 18697196 )
2008
14
Diagnosis of a terminal deletion of 4p with duplication of Xp22.31 in a patient with findings of Opitz G/BBB syndrome and Wolf-Hirschhorn syndrome. ( 18074389 )
2008
15
MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified. ( 17221865 )
2007
16
Neonatal teeth in X-linked Opitz (G/BBB) syndrome. ( 16760742 )
2006
17
X-linked Opitz G/BBB syndrome: identification of a novel mutation and prenatal diagnosis in a Korean family. ( 17043407 )
2006
18
Congenital chylothorax in Opitz G/BBB syndrome. ( 16619207 )
2006
19
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. ( 15558842 )
2005
20
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome. ( 12545276 )
2003
21
MID1 and MID2 homo- and heterodimerise to tether the rapamycin- sensitive PP2A regulatory subunit, Alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders. ( 11806752 )
2002
22
Distinct and diagnostic "facial gestalt" in X-linked Opitz G/BBB syndrome. ( 10422018 )
1999
23
Pituitary macroadenoma and cranial osteoma in a manifesting heterozygote with the Opitz G/BBB syndrome. ( 9843057 )
1998
24
Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain. ( 9718340 )
1998
25
Further delineation of the Opitz G/BBB syndrome: report of an infant with complex congenital heart disease and bladder exstrophy, and review of the literature. ( 9677070 )
1998
26
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. ( 9354791 )
1997
27
Linkage analysis in a family with the Opitz GBBB syndrome refines the location of the gene in Xp22 to a 4 cM region. ( 9028470 )
1997
28
Opitz GBBB syndrome and the 22q11.2 deletion. ( 8882795 )
1996
29
Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature. ( 8882794 )
1996
30
Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome. ( 8882786 )
1996
31
Opitz GBBB syndrome: chromosomal evidence of an X-linked form. ( 8849003 )
1995
32
X-Linked Opitz G/BBB Syndrome ( 20301502 )
1993
33
Brain magnetic resonance imaging findings in the Opitz G/BBB syndrome: extension of the spectrum of midline brain anomalies. ( 8362914 )
1993
34
CNS midline anomalies in the Opitz G/BBB syndrome: report on 12 Brazilian patients. ( 1415340 )
1992

Variations for Opitz-Gbbb Syndrome

ClinVar genetic disease variations for Opitz-Gbbb Syndrome:

6 (show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 MID1 MID1, 3-BP DEL, MET438 deletion Pathogenic
2 MID1 MID1, 24-BP DUP duplication Pathogenic
3 MID1 MID1, 1-BP INS insertion Pathogenic
4 MID1 NM_033290.3(MID1): c.1877T> C (p.Leu626Pro) single nucleotide variant Pathogenic rs28934611 GRCh37 Chromosome X, 10417535: 10417535
5 MID1 NM_033290.3(MID1): c.343G> T (p.Glu115Ter) single nucleotide variant Pathogenic rs104894865 GRCh37 Chromosome X, 10535245: 10535245
6 MID1 MID1, EX1 DUP duplication Pathogenic
7 MID1 NM_033290.3(MID1): c.884T> C (p.Leu295Pro) single nucleotide variant Pathogenic rs104894866 GRCh37 Chromosome X, 10450649: 10450649
8 MID1 MID1, 2-BP DEL, 1545GA deletion Pathogenic
9 MID1 NM_033290.3(MID1): c.712G> T (p.Glu238Ter) single nucleotide variant Pathogenic rs387906719 GRCh37 Chromosome X, 10491176: 10491176
10 MID1 NM_033290.3(MID1): c.783delA (p.Lys261Asnfs) deletion Pathogenic rs398123343 GRCh37 Chromosome X, 10463705: 10463705
11 MID1 NM_033290.3(MID1): c.1798dupC (p.His600Profs) duplication Pathogenic rs398123342 GRCh37 Chromosome X, 10417614: 10417614
12 MID1 NM_000381.3(MID1): c.1302_1305dupTGAT (p.Ser436Terfs) duplication Pathogenic rs786200982 GRCh37 Chromosome X, 10427828: 10427831
13 SPECC1L NM_015330.4(SPECC1L): c.1189A> C (p.Thr397Pro) single nucleotide variant Pathogenic rs786201030 GRCh38 Chromosome 22, 24322169: 24322169
14 SPECC1L NM_015330.4(SPECC1L): c.3247G> A (p.Gly1083Ser) single nucleotide variant Pathogenic rs786201031 GRCh38 Chromosome 22, 24412690: 24412690
15 MID1 NM_033290.3(MID1): c.1447_1447+1insAACA insertion Pathogenic rs797044786 GRCh37 Chromosome X, 10427685: 10427686

Expression for Opitz-Gbbb Syndrome

Search GEO for disease gene expression data for Opitz-Gbbb Syndrome.

Pathways for Opitz-Gbbb Syndrome

Pathways related to Opitz-Gbbb Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Ubiquitin mediated proteolysis hsa04120

Pathways related to Opitz-Gbbb Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.39 BBOX1 TMLHE

GO Terms for Opitz-Gbbb Syndrome

Biological processes related to Opitz-Gbbb Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein localization to microtubule GO:0035372 8.96 MID1 MID2
2 carnitine biosynthetic process GO:0045329 8.62 BBOX1 TMLHE

Molecular functions related to Opitz-Gbbb Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 zinc ion binding GO:0008270 9.26 BBOX1 MID1 MID2 TRIM17
2 dioxygenase activity GO:0051213 9.16 BBOX1 TMLHE
3 phosphoprotein binding GO:0051219 8.62 MID1 MID2

Sources for Opitz-Gbbb Syndrome

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