MCID: OPT048
MIFTS: 50

Opitz-Gbbb Syndrome

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare 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 hypertelorism. 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 hypertelorism and low-set ears

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 : 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.

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

Diseases in the Opitz-Gbbb Syndrome family:

Opitz Gbbb Syndrome, Type Ii Opitz Gbbb Syndrome, Type I

Diseases related to Opitz-Gbbb Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 81)
# Related Disease Score Top Affiliating Genes
1 opitz gbbb syndrome, type ii 34.3 MID1 SPECC1L
2 hypertelorism 30.2 MID1 SPECC1L
3 hypospadias 30.0 MID1 MID2 SPECC1L
4 opitz gbbb syndrome, type i 12.8
5 smith-lemli-opitz syndrome 12.7
6 bohring-opitz syndrome 12.6
7 x-linked opitz g/bbb syndrome 12.2
8 neuhauser eichner opitz syndrome 12.0
9 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome 12.0
10 wiedemann opitz syndrome 12.0
11 lathosterolosis 11.3
12 digeorge syndrome 11.2
13 hypospadias 1, x-linked 11.1
14 encephalopathy, recurrent, of childhood 11.1
15 neurofaciodigitorenal syndrome 11.1
16 hypertelorism, teebi type 11.1
17 greenberg dysplasia 11.0
18 hypospadias 2, x-linked 11.0
19 van buchem disease 11.0
20 waisman syndrome 11.0
21 early-onset parkinsonism-intellectual disability syndrome 11.0
22 amenorrhea-galactorrhea syndrome 11.0
23 hyperprolactinemia 11.0
24 ahumada del castillo syndrome 11.0
25 retinal degeneration 10.3
26 ring chromosome 22 10.3
27 dysphagia 10.2
28 hirschsprung disease 1 10.1
29 velocardiofacial syndrome 10.1
30 autism 10.1
31 polydactyly 10.1
32 holoprosencephaly 10.1
33 heart disease 10.0
34 pulmonary hypertension 10.0
35 malignant hyperthermia 10.0
36 cleft lip/palate 9.9 MID1 SPECC1L
37 diaphragmatic hernia, congenital 9.9
38 wolf-hirschhorn syndrome 9.9
39 exstrophy of bladder 9.9
40 chylothorax, congenital 9.9
41 polyhydramnios 9.9
42 chromosome 4p deletion 9.9
43 cleft palate, isolated 9.8
44 pallister-hall syndrome 9.8
45 medulloblastoma 9.8
46 pancreas, annular 9.8
47 down syndrome 9.8
48 renal hypodysplasia/aplasia 1 9.8
49 cerebrotendinous xanthomatosis 9.8
50 chondrodysplasia punctata syndrome 9.8

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

Publications for Opitz-Gbbb Syndrome

Articles related to Opitz-Gbbb Syndrome:

(show all 38)
# Title Authors Year
1
A surgical approach to the craniofacial defects of Opitz G/BBB syndrome. ( 28458838 )
2017
2
Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome. ( 29456483 )
2017
3
Dental treatment of a patient with Opitz G/BBB syndrome. ( 27642052 )
2017
4
Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses. ( 27749392 )
2017
5
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
6
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
7
R368X mutation in MID1 among recurrent mutations in patients with X-linked Opitz G/BBB syndrome. ( 25304119 )
2014
8
Prenatal diagnosis of maternally inherited X-linked Opitz G/BBB syndrome by chromosomal microarray in a fetus with complex congenital heart disease. ( 24863803 )
2014
9
A novel mutation in MID1 in a patient with X-linked Opitz G/BBB syndrome. ( 24374473 )
2014
10
Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome. ( 23354372 )
2013
11
Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations. ( 23791568 )
2013
12
A MID1 gene mutation in a patient with Opitz G/BBB syndrome that altered the 3D structure of SPRY domain. ( 22407675 )
2012
13
A MID1 mutation associated with reduced penetrance of X-linked Opitz G/BBB syndrome. ( 20671548 )
2010
14
Congenital diaphragmatic hernia is a feature of Opitz G/BBB syndrome. ( 20823703 )
2010
15
Case of polyhydramnios complicated by Opitz G/BBB syndrome. ( 20666962 )
2010
16
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
17
Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation. ( 18697196 )
2008
18
MID1 mutations in patients with X-linked Opitz G/BBB syndrome. ( 18360914 )
2008
19
MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified. ( 17221865 )
2007
20
X-linked Opitz G/BBB syndrome: identification of a novel mutation and prenatal diagnosis in a Korean family. ( 17043407 )
2006
21
Neonatal teeth in X-linked Opitz (G/BBB) syndrome. ( 16760742 )
2006
22
Congenital chylothorax in Opitz G/BBB syndrome. ( 16619207 )
2006
23
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. ( 15558842 )
2005
24
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome. ( 12545276 )
2003
25
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
26
Distinct and diagnostic "facial gestalt" in X-linked Opitz G/BBB syndrome. ( 10422018 )
1999
27
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
28
Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain. ( 9718340 )
1998
29
Pituitary macroadenoma and cranial osteoma in a manifesting heterozygote with the Opitz G/BBB syndrome. ( 9843057 )
1998
30
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
31
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. ( 9354791 )
1997
32
Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome. ( 8882786 )
1996
33
Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature. ( 8882794 )
1996
34
Opitz GBBB syndrome and the 22q11.2 deletion. ( 8882795 )
1996
35
Opitz GBBB syndrome: chromosomal evidence of an X-linked form. ( 8849003 )
1995
36
Brain magnetic resonance imaging findings in the Opitz G/BBB syndrome: extension of the spectrum of midline brain anomalies. ( 8362914 )
1993
37
X-Linked Opitz G/BBB Syndrome ( 20301502 )
1993
38
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
5 SPECC1L NM_001145468.3(SPECC1L): c.1292T> C (p.Leu431Pro) single nucleotide variant Likely pathogenic GRCh37 Chromosome 22, 24718240: 24718240
6 SPECC1L NM_001145468.3(SPECC1L): c.1292T> C (p.Leu431Pro) single nucleotide variant Likely pathogenic GRCh38 Chromosome 22, 24322272: 24322272

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 9.32 BBOX1 TMLHE
2 dioxygenase activity GO:0051213 9.26 BBOX1 TMLHE
3 zinc ion binding GO:0008270 9.26 BBOX1 MID1 MID2 TRIM17
4 phosphoprotein binding GO:0051219 9.16 MID1 MID2
5 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GO:0016702 8.62 BBOX1 TMLHE

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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