MCID: OPT048
MIFTS: 37

Opitz-Gbbb Syndrome malady

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

Aliases & Classifications for Opitz-Gbbb Syndrome

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Aliases & Descriptions for Opitz-Gbbb Syndrome:

Name: Opitz-Gbbb Syndrome 11 13
Opitz G/bbb Syndrome 11 48 25 54
Opitz-Frias Syndrome 48 25 54
Hypospadias-Dysphagia Syndrome 25 54
Opitz-G Syndrome, Type 2 48 68
Opitz Bbb/g Syndrome 25 27
Opitz Syndrome 25 54
Hypertelorism with Esophageal Abnormalities and Hypospadias 25
Hypertelorism-Oesophageal Abnormality-Hypospadias Syndrome 54
Hypertelorism with Esophageal Abnormality and Hypospadias 48
Telecanthus with Associated Abnormalities 48
 
Hypospadias-Hypertelorism Syndrome 54
Hypertelorism Hypospadias Syndrome 48
Hypertelorism-Hypospadias Sydrome 25
Hypospadias-Dysphagia, Syndrome 48
Opitz Gbbb Syndrome, X-Linked 68
Opitz Bbbg Syndrome 48
Opitz Bbb Syndrome 25
Opitz G Syndrome 25
Gbbb Syndrome 48
Bbb Syndrome 48
G Syndrome 48

Characteristics:

Orphanet epidemiological data:

54
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:



External Ids:

Disease Ontology11 DOID:0050780
Orphanet54 ORPHA2745
ICD10 via Orphanet31 Q87.8

Summaries for Opitz-Gbbb Syndrome

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NIH Rare Diseases:48 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 Array, Array and Array. An important gene associated with Opitz-Gbbb Syndrome is MID1 (Midline 1), and among its related pathways are Valine, leucine and isoleucine degradation and Lysine degradation. Affiliated tissues include eye, trachea and heart.

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:11 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.

Related Diseases for Opitz-Gbbb Syndrome

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Graphical network of diseases related to Opitz-Gbbb Syndrome:



Diseases related to opitz-gbbb syndrome

Symptoms & Phenotypes for Opitz-Gbbb Syndrome

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Human phenotypes related to Opitz-Gbbb Syndrome:

 54 64 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypospadias64 54 Very frequent (99-80%) HP:0000047
2 cleft palate64 54 Occasional (29-5%) HP:0000175
3 oral cleft54 Occasional (29-5%)
4 large fontanelles64 54 Occasional (29-5%) HP:0000239
5 epicanthus64 54 Very frequent (99-80%) HP:0000286
6 hypertelorism64 54 Very frequent (99-80%) HP:0000316
7 low-set ears64 54 Occasional (29-5%) HP:0000369
8 sensorineural hearing impairment64 54 Occasional (29-5%) HP:0000407
9 wide nasal bridge64 54 Very frequent (99-80%) HP:0000431
10 anteverted nares64 54 Very frequent (99-80%) HP:0000463
11 downslanted palpebral fissures64 54 Occasional (29-5%) HP:0000494
12 telecanthus64 54 Very frequent (99-80%) HP:0000506
13 abnormality of the pharynx64 54 Very frequent (99-80%) HP:0000600
14 hypodontia64 54 Occasional (29-5%) HP:0000668
15 pectus excavatum64 54 Occasional (29-5%) HP:0000767
16 pectus carinatum64 54 Occasional (29-5%) HP:0000768
17 intellectual disability64 54 Frequent (79-30%) HP:0001249
18 global developmental delay64 54 Frequent (79-30%) HP:0001263
19 abnormality of the voice64 54 Frequent (79-30%) HP:0001608
20 respiratory insufficiency64 54 Frequent (79-30%) HP:0002093
21 prominent metopic ridge64 54 Occasional (29-5%) HP:0005487
22 increased number of teeth64 54 Occasional (29-5%) HP:0011069
23 prominent forehead64 54 Frequent (79-30%) HP:0011220

Drugs & Therapeutics for Opitz-Gbbb Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Opitz-Gbbb Syndrome

Genetic Tests for Opitz-Gbbb Syndrome

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Genetic tests related to Opitz-Gbbb Syndrome:

id Genetic test Affiliating Genes
1 Opitz G/bbb Syndrome27

Anatomical Context for Opitz-Gbbb Syndrome

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MalaCards organs/tissues related to Opitz-Gbbb Syndrome:

36
Eye, Trachea, Heart

Publications for Opitz-Gbbb Syndrome

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Articles related to Opitz-Gbbb Syndrome:

idTitleAuthorsYear
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
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. (15558842)
2005
3
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
4
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
5
Opitz GBBB syndrome and the 22q11.2 deletion. (8882795)
1996
6
Opitz GBBB syndrome: chromosomal evidence of an X-linked form. (8849003)
1995

Variations for Opitz-Gbbb Syndrome

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Expression for genes affiliated with Opitz-Gbbb Syndrome

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

Pathways for genes affiliated with Opitz-Gbbb Syndrome

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GO Terms for genes affiliated with Opitz-Gbbb Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of microtubule depolymerizationGO:00070269.9MID1, SPECC1L
2protein localization to microtubuleGO:00353729.6MID1, MID2
3carnitine biosynthetic processGO:00453299.5BBOX1, TMLHE

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

idNameGO IDScoreTop Affiliating Genes
1phosphoprotein bindingGO:005121910.4MID1, MID2
2dioxygenase activityGO:00512139.8BBOX1, TMLHE
3iron ion bindingGO:00055069.8BBOX1, TMLHE
4zinc ion bindingGO:00082708.5BBOX1, MID1, MID2, TRIM17

Sources for Opitz-Gbbb Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet