MCID: OPT048
MIFTS: 42

Opitz-Gbbb Syndrome

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

Aliases & Classifications for Opitz-Gbbb Syndrome

MalaCards integrated aliases for Opitz-Gbbb Syndrome:

Name: Opitz-Gbbb Syndrome 12 37 15
Opitz G/bbb Syndrome 12 53 25 59 29 6
Opitz-Frias Syndrome 53 25 59
Hypospadias-Dysphagia Syndrome 25 59
Opitz-G Syndrome, Type 2 53 73
Opitz Syndrome 25 59
Hypertelorism with Esophageal Abnormalities and Hypospadias 25
Hypertelorism-Oesophageal Abnormality-Hypospadias Syndrome 59
Hypertelorism with Esophageal Abnormality and Hypospadias 53
Telecanthus with Associated Abnormalities 53
Hypertelorism Hypospadias Syndrome 53
Hypospadias-Hypertelorism Syndrome 59
Hypertelorism-Hypospadias Sydrome 25
Hypospadias-Dysphagia, Syndrome 53
Opitz Gbbb Syndrome, X-Linked 73
Opitz G Syndrome, Type Ii 13
Opitz Bbb/g Syndrome 25
Opitz Bbbg Syndrome 53
Opitz Bbb Syndrome 25
Opitz G Syndrome 25
Gbbb Syndrome 53
Bbb Syndrome 53
G Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
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 : 53 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.

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. 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 Valine, leucine and isoleucine degradation. Affiliated tissues include eye, heart and trachea, and related phenotypes are hypospadias and cleft palate

Genetics Home Reference : 25 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.

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.

Wikipedia : 76 Opitz G/BBB syndrome, also known as Opitz syndrome, G syndrome or BBB syndrome, is a rare genetic... more...

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:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypospadias 59 32 hallmark (90%) Very frequent (99-80%) HP:0000047
2 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
3 large fontanelles 59 32 occasional (7.5%) Occasional (29-5%) HP:0000239
4 epicanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000286
5 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
6 low-set ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000369
7 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
8 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
9 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
10 downslanted palpebral fissures 59 32 occasional (7.5%) Occasional (29-5%) HP:0000494
11 telecanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000506
12 abnormality of the pharynx 59 32 hallmark (90%) Very frequent (99-80%) HP:0000600
13 hypodontia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000668
14 pectus excavatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000767
15 pectus carinatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000768
16 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
17 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
18 abnormality of the voice 59 32 frequent (33%) Frequent (79-30%) HP:0001608
19 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
20 prominent metopic ridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0005487
21 increased number of teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0011069
22 prominent forehead 59 32 frequent (33%) Frequent (79-30%) HP:0011220
23 oral cleft 59 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 29 SPECC1L

Anatomical Context for Opitz-Gbbb Syndrome

MalaCards organs/tissues related to Opitz-Gbbb Syndrome:

41
Eye, Heart, Trachea, Pituitary, Brain

Publications for Opitz-Gbbb Syndrome

Articles related to Opitz-Gbbb Syndrome:

(show all 36)
# Title Authors Year
1
A surgical approach to the craniofacial defects of Opitz G/BBB syndrome. ( 28458838 )
2017
2
Two Novel Pathogenic <i>MID1</i> Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome. ( 29456483 )
2017
3
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
4
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
5
R368X mutation in MID1 among recurrent mutations in patients with X-linked Opitz G/BBB syndrome. ( 25304119 )
2014
6
Prenatal diagnosis of maternally inherited X-linked Opitz G/BBB syndrome by chromosomal microarray in a fetus with complex congenital heart disease. ( 24863803 )
2014
7
A novel mutation in MID1 in a patient with X-linked Opitz G/BBB syndrome. ( 24374473 )
2014
8
Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome. ( 23354372 )
2013
9
Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations. ( 23791568 )
2013
10
A MID1 gene mutation in a patient with Opitz G/BBB syndrome that altered the 3D structure of SPRY domain. ( 22407675 )
2012
11
A MID1 mutation associated with reduced penetrance of X-linked Opitz G/BBB syndrome. ( 20671548 )
2010
12
Congenital diaphragmatic hernia is a feature of Opitz G/BBB syndrome. ( 20823703 )
2010
13
Case of polyhydramnios complicated by Opitz G/BBB syndrome. ( 20666962 )
2010
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
Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation. ( 18697196 )
2008
16
MID1 mutations in patients with X-linked Opitz G/BBB syndrome. ( 18360914 )
2008
17
MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified. ( 17221865 )
2007
18
X-linked Opitz G/BBB syndrome: identification of a novel mutation and prenatal diagnosis in a Korean family. ( 17043407 )
2006
19
Neonatal teeth in X-linked Opitz (G/BBB) syndrome. ( 16760742 )
2006
20
Congenital chylothorax in Opitz G/BBB syndrome. ( 16619207 )
2006
21
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. ( 15558842 )
2005
22
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome. ( 12545276 )
2003
23
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
24
Distinct and diagnostic &amp;quot;facial gestalt&amp;quot; in X-linked Opitz G/BBB syndrome. ( 10422018 )
1999
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 in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain. ( 9718340 )
1998
27
Pituitary macroadenoma and cranial osteoma in a manifesting heterozygote with the Opitz G/BBB syndrome. ( 9843057 )
1998
28
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
29
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. ( 9354791 )
1997
30
Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome. ( 8882786 )
1996
31
Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature. ( 8882794 )
1996
32
Opitz GBBB syndrome and the 22q11.2 deletion. ( 8882795 )
1996
33
Opitz GBBB syndrome: chromosomal evidence of an X-linked form. ( 8849003 )
1995
34
Brain magnetic resonance imaging findings in the Opitz G/BBB syndrome: extension of the spectrum of midline brain anomalies. ( 8362914 )
1993
35
X-Linked Opitz G/BBB Syndrome ( 20301502 )
1993
36
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
# Gene Variation Type Significance SNP ID Assembly Location
1 SPECC1L NM_015330.4(SPECC1L): c.1189A> C (p.Thr397Pro) single nucleotide variant Pathogenic rs786201030 GRCh38 Chromosome 22, 24322169: 24322169
2 SPECC1L NM_015330.4(SPECC1L): c.1189A> C (p.Thr397Pro) single nucleotide variant Pathogenic rs786201030 GRCh37 Chromosome 22, 24718137: 24718137
3 SPECC1L NM_015330.4(SPECC1L): c.3247G> A (p.Gly1083Ser) single nucleotide variant Pathogenic rs786201031 GRCh38 Chromosome 22, 24412690: 24412690
4 SPECC1L NM_015330.4(SPECC1L): c.3247G> A (p.Gly1083Ser) single nucleotide variant Pathogenic rs786201031 GRCh37 Chromosome 22, 24808658: 24808658

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:

37
# 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
Show member pathways
11.03 BBOX1 TMLHE
2 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 iron ion binding GO:0005506 9.26 BBOX1 TMLHE
2 dioxygenase activity GO:0051213 9.16 BBOX1 TMLHE
3 phosphoprotein binding GO:0051219 8.96 MID1 MID2
4 zinc ion binding GO:0008270 8.92 BBOX1 MID1 MID2 TRIM17

Sources for Opitz-Gbbb Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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