MCID: OPT048
MIFTS: 37

Opitz-Gbbb Syndrome malady

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

Aliases & Classifications for Opitz-Gbbb Syndrome

Aliases & Descriptions for Opitz-Gbbb Syndrome:

Name: Opitz-Gbbb Syndrome 12 14
Opitz G/bbb Syndrome 12 50 25 56
Opitz-Frias Syndrome 50 25 56
Hypospadias-Dysphagia Syndrome 25 56
Opitz-G Syndrome, Type 2 50 69
Opitz Bbb/g Syndrome 25 29
Opitz Syndrome 25 56
Hypertelorism with Esophageal Abnormalities and Hypospadias 25
Hypertelorism-Oesophageal Abnormality-Hypospadias Syndrome 56
Hypertelorism with Esophageal Abnormality and Hypospadias 50
Telecanthus with Associated Abnormalities 50
Hypertelorism Hypospadias Syndrome 50
Hypospadias-Hypertelorism Syndrome 56
Hypertelorism-Hypospadias Sydrome 25
Hypospadias-Dysphagia, Syndrome 50
Opitz Gbbb Syndrome, X-Linked 69
Opitz Bbbg Syndrome 50
Opitz Bbb Syndrome 25
Opitz G Syndrome 25
Gbbb Syndrome 50
Bbb Syndrome 50
G Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
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 Ontology 12 DOID:0050780
Orphanet 56 ORPHA2745
ICD10 via Orphanet 34 Q87.8

Summaries for Opitz-Gbbb Syndrome

NIH Rare Diseases : 50 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 hypertelorism, low-set ears and pectus excavatum. An important gene associated with Opitz-Gbbb Syndrome is MID1 (Midline 1), and among its related pathways/superpathways are Valine, leucine and isoleucine degradation and Lysine degradation. Affiliated tissues include eye, heart and trachea.

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.

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:

56 32 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 56 32 Very frequent (99-80%) HP:0000316
2 low-set ears 56 32 Occasional (29-5%) HP:0000369
3 pectus excavatum 56 32 Occasional (29-5%) HP:0000767
4 intellectual disability 56 32 Frequent (79-30%) HP:0001249
5 respiratory insufficiency 56 32 Frequent (79-30%) HP:0002093
6 global developmental delay 56 32 Frequent (79-30%) HP:0001263
7 wide nasal bridge 56 32 Very frequent (99-80%) HP:0000431
8 pectus carinatum 56 32 Occasional (29-5%) HP:0000768
9 sensorineural hearing impairment 56 32 Occasional (29-5%) HP:0000407
10 anteverted nares 56 32 Very frequent (99-80%) HP:0000463
11 prominent forehead 56 32 Frequent (79-30%) HP:0011220
12 cleft palate 56 32 Occasional (29-5%) HP:0000175
13 epicanthus 56 32 Very frequent (99-80%) HP:0000286
14 telecanthus 56 32 Very frequent (99-80%) HP:0000506
15 hypospadias 56 32 Very frequent (99-80%) HP:0000047
16 downslanted palpebral fissures 56 32 Occasional (29-5%) HP:0000494
17 increased number of teeth 56 32 Occasional (29-5%) HP:0011069
18 abnormality of the voice 56 32 Frequent (79-30%) HP:0001608
19 abnormality of the pharynx 56 32 Very frequent (99-80%) HP:0000600
20 hypodontia 56 32 Occasional (29-5%) HP:0000668
21 large fontanelles 56 32 Occasional (29-5%) HP:0000239
22 prominent metopic ridge 56 32 Occasional (29-5%) HP:0005487
23 oral cleft 56 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:

id Genetic test Affiliating Genes
1 Opitz G/bbb Syndrome 29

Anatomical Context for Opitz-Gbbb Syndrome

MalaCards organs/tissues related to Opitz-Gbbb Syndrome:

39
Eye, Heart, Trachea

Publications for Opitz-Gbbb Syndrome

Articles related to Opitz-Gbbb Syndrome:

id 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
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

ClinVar genetic disease variations for Opitz-Gbbb Syndrome:

6 (show all 15)
id 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.1798dupC (p.His600Profs) duplication Pathogenic rs398123342 GRCh37 Chromosome X, 10417614: 10417614
11 MID1 NM_033290.3(MID1): c.783delA (p.Lys261Asnfs) deletion Pathogenic rs398123343 GRCh37 Chromosome X, 10463705: 10463705
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 GeneCards Suite gene sharing:

id 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:

id Name GO ID Score Top Affiliating Genes
1 negative regulation of microtubule depolymerization GO:0007026 9.16 MID1 SPECC1L
2 protein localization to microtubule GO:0035372 8.96 MID1 MID2
3 carnitine biosynthetic process GO:0045329 8.62 BBOX1 TMLHE

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

id Name GO ID Score Top Affiliating Genes
1 iron ion binding GO:0005506 9.26 BBOX1 TMLHE
2 zinc ion binding GO:0008270 9.26 BBOX1 MID1 MID2 TRIM17
3 dioxygenase activity GO:0051213 9.16 BBOX1 TMLHE
4 phosphoprotein binding GO:0051219 8.62 MID1 MID2

Sources for Opitz-Gbbb Syndrome

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