MCID: OPT050
MIFTS: 42

Opitz Gbbb Syndrome, Type Ii malady

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

Aliases & Classifications for Opitz Gbbb Syndrome, Type Ii

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Aliases & Descriptions for Opitz Gbbb Syndrome, Type Ii:

Name: Opitz Gbbb Syndrome, Type Ii 51
Opitz-Frias Syndrome 47 25 53 69 26
Opitz G/bbb Syndrome 11 47 25 53
Hypertelorism with Esophageal Abnormality and Hypospadias 47 24 69
Hypospadias-Dysphagia Syndrome 25 53 69
Telecanthus with Associated Abnormalities 47 69
Opitz-G Syndrome, Type 2 47 67
Opitz Bbb/g Syndrome 25 26
Opitz Bbbg Syndrome 47 69
Opitz-Gbbb Syndrome 11 13
Opitz Syndrome 25 53
Gbbb Syndrome 47 69
Bbb Syndrome 47 69
G Syndrome 47 69
Gbbb2 24 69
Hypertelorism with Esophageal Abnormalities and Hypospadias 25
Hypertelorism-Oesophageal Abnormality-Hypospadias Syndrome 53
Chromosome 22q11.2 Deletion Syndrome, Opitz Phenotype 69
Opitz Oculogenitolaryngeal Syndrome, Type Ii 69
Opitz G/bbb Syndrome, Autosomal Dominant 24
 
Autosomal Dominant Opitz G/bbb Syndrome 53
Opitz Gbbb Syndrome, Autosomal Dominant 69
Autosomal Dominant Opitz Bbb/g Syndrome 53
Hypertelorism Hypospadias Syndrome 47
Hypertelorism-Hypospadias Syndrome 69
Hypospadias-Hypertelorism Syndrome 53
Hypertelorism-Hypospadias Sydrome 25
Autosomal Dominant Opitz Syndrome 53
Telecanthus-Hypospadias Syndrome 69
Hypospadias-Dysphagia, Syndrome 47
Opitz Gbbb Syndrome, X-Linked 67
Opitz Gbbb Syndrome Type 2 24
Opitz-G Syndrome, Type Ii 69
Opitz G Syndrome, Type Ii 12
Opitz Gbbb Syndrome 2 69
Opitz Bbb Syndrome 25
Digeorge Syndrome 67
Opitz G Syndrome 25
Ogs2 69
Ados 53

Characteristics:

Orphanet epidemiological data:

53
opitz-frias syndrome:
Inheritance: Autosomal dominant,X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age

HPO:

63
opitz gbbb syndrome, type ii:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 145410
Disease Ontology11 DOID:0050780
ICD10 via Orphanet30 Q87.8
MedGen36 C1801950

Summaries for Opitz Gbbb Syndrome, Type Ii

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NIH Rare Diseases:47 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, Type Ii, also known as opitz-frias syndrome, is related to opitz gbbb syndrome, type i and x-linked opitz g/bbb syndrome, and has symptoms including epicanthus, hypertelorism and anteverted nares. An important gene associated with Opitz Gbbb Syndrome, Type Ii is SPECC1L (Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1 Like), and among its related pathways are Valine, leucine and isoleucine degradation and Lysine degradation. Affiliated tissues include heart, eye and trachea.

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.

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.

OMIM:51 Features of the Opitz GBBB syndrome include hypertelorism or telecanthus; laryngotracheoesophageal cleft; clefts of... (145410) more...

UniProtKB/Swiss-Prot:69 Opitz GBBB syndrome 2: A form of Opitz GBBB syndrome, a congenital midline malformation syndrome characterized by hypertelorism, genital-urinary defects such as hypospadias in males and splayed labia in females, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay and congenital heart defects.

Related Diseases for Opitz Gbbb Syndrome, Type Ii

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Graphical network of the top 20 diseases related to Opitz Gbbb Syndrome, Type Ii:



Diseases related to opitz gbbb syndrome, type ii

Symptoms for Opitz Gbbb Syndrome, Type Ii

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Symptoms by clinical synopsis from OMIM:

145410

Clinical features from OMIM:

145410

Human phenotypes related to Opitz Gbbb Syndrome, Type Ii:

 63 53 (show all 71)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 epicanthus63 53 hallmark (90%) Very frequent (99-80%) HP:0000286
2 hypertelorism63 53 hallmark (90%) Very frequent (99-80%) HP:0000316
3 anteverted nares63 53 hallmark (90%) Very frequent (99-80%) HP:0000463
4 telecanthus63 53 hallmark (90%) Very frequent (99-80%) HP:0000506
5 abnormality of the pharynx63 53 hallmark (90%) Very frequent (99-80%) HP:0000600
6 displacement of the external urethral meatus63 hallmark (90%) HP:0100627
7 abnormality of the voice63 53 typical (50%) Frequent (79-30%) HP:0001608
8 frontal bossing63 typical (50%) HP:0002007
9 respiratory insufficiency63 53 typical (50%) Frequent (79-30%) HP:0002093
10 cognitive impairment63 typical (50%) HP:0100543
11 cleft palate63 53 occasional (7.5%) Occasional (29-5%) HP:0000175
12 low-set, posteriorly rotated ears63 occasional (7.5%) HP:0000368
13 sensorineural hearing impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0000407
14 downslanted palpebral fissures63 53 occasional (7.5%) Occasional (29-5%) HP:0000494
15 pectus excavatum63 53 occasional (7.5%) Occasional (29-5%) HP:0000767
16 pectus carinatum63 53 occasional (7.5%) Occasional (29-5%) HP:0000768
17 prominent metopic ridge63 53 occasional (7.5%) Occasional (29-5%) HP:0005487
18 reduced number of teeth63 occasional (7.5%) HP:0009804
19 increased number of teeth63 53 occasional (7.5%) Occasional (29-5%) HP:0011069
20 craniosynostosis63 rare (5%) HP:0001363
21 inguinal hernia63 HP:0000023
22 cryptorchidism63 HP:0000028
23 hypospadias63 53 Very frequent (99-80%) HP:0000047
24 bifid scrotum63 HP:0000048
25 abnormality of the ureter63 HP:0000069
26 abnormality of the kidney63 HP:0000077
27 bifid uvula63 HP:0000193
28 short lingual frenulum63 HP:0000200
29 cleft upper lip63 HP:0000204
30 high palate63 HP:0000218
31 thin upper lip vermilion63 HP:0000219
32 cranial asymmetry63 HP:0000267
33 smooth philtrum63 HP:0000319
34 micrognathia63 HP:0000347
35 widow's peak63 HP:0000349
36 posteriorly rotated ears63 HP:0000358
37 conductive hearing impairment63 HP:0000405
38 wide nasal bridge63 53 Very frequent (99-80%) HP:0000431
39 strabismus63 HP:0000486
40 intellectual disability63 53 Frequent (79-30%) HP:0001249
41 muscular hypotonia63 HP:0001252
42 global developmental delay63 53 Frequent (79-30%) HP:0001263
43 agenesis of corpus callosum63 HP:0001274
44 cerebellar vermis hypoplasia63 HP:0001320
45 umbilical hernia63 HP:0001537
46 diastasis recti63 HP:0001540
47 weak cry63 HP:0001612
48 ventricular septal defect63 HP:0001629
49 atria septal defect63 HP:0001631
50 patent ductus arteriosus63 HP:0001643
51 coarctation of aorta63 HP:0001680
52 dysphagia63 HP:0002015
53 anal atresia63 HP:0002023
54 anal stenosis63 HP:0002025
55 hiatus hernia63 HP:0002036
56 pulmonary hypoplasia63 HP:0002089
57 pulmonary hypertension63 HP:0002092
58 ventriculomegaly63 HP:0002119
59 cerebral cortical atrophy63 HP:0002120
60 cavum septum pellucidum63 HP:0002389
61 tracheoesophageal fistula63 HP:0002575
62 aspiration63 HP:0002835
63 depressed nasal bridge63 HP:0005280
64 aplasia/hypoplasia of the cerebellar vermis63 HP:0006817
65 laryngeal cleft63 HP:0008751
66 prominent forehead63 53 Frequent (79-30%) HP:0011220
67 absent gallbladder63 HP:0011467
68 oral cleft53 Occasional (29-5%)
69 large fontanelles53 Occasional (29-5%)
70 low-set ears53 Occasional (29-5%)
71 hypodontia53 Occasional (29-5%)

Drugs & Therapeutics for Opitz Gbbb Syndrome, Type Ii

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Opitz Gbbb Syndrome, Type Ii

Genetic Tests for Opitz Gbbb Syndrome, Type Ii

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Genetic tests related to Opitz Gbbb Syndrome, Type Ii:

id Genetic test Affiliating Genes
1 Opitz G/bbb Syndrome26
2 Opitz-Frias Syndrome26
3 Opitz Gbbb Syndrome Type 224 SPECC1L
4 Opitz G/bbb Syndrome, Autosomal Dominant24

Anatomical Context for Opitz Gbbb Syndrome, Type Ii

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MalaCards organs/tissues related to Opitz Gbbb Syndrome, Type Ii:

35
Heart, Eye, Trachea, Kidney

Animal Models for Opitz Gbbb Syndrome, Type Ii or affiliated genes

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Publications for Opitz Gbbb Syndrome, Type Ii

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Variations for Opitz Gbbb Syndrome, Type Ii

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UniProtKB/Swiss-Prot genetic disease variations for Opitz Gbbb Syndrome, Type Ii:

69
id Symbol AA change Variation ID SNP ID
1SPECC1Lp.Thr397ProVAR_073384
2SPECC1Lp.Gly1083SerVAR_073385

Clinvar genetic disease variations for Opitz Gbbb Syndrome, Type Ii:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SPECC1LNM_015330.4(SPECC1L): c.1189A> C (p.Thr397Pro)SNVPathogenicrs786201030GRCh38Chr 22, 24322169: 24322169
2SPECC1LNM_015330.4(SPECC1L): c.3247G> A (p.Gly1083Ser)SNVPathogenicrs786201031GRCh38Chr 22, 24412690: 24412690

Expression for genes affiliated with Opitz Gbbb Syndrome, Type Ii

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Search GEO for disease gene expression data for Opitz Gbbb Syndrome, Type Ii.

Pathways for genes affiliated with Opitz Gbbb Syndrome, Type Ii

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Pathways related to Opitz Gbbb Syndrome, Type Ii according to KEGG:

33
id Name KEGG Source Accession
1hsaH00583

Pathways related to Opitz Gbbb Syndrome, Type Ii according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.2BBOX1, TMLHE
29.2BBOX1, TMLHE

GO Terms for genes affiliated with Opitz Gbbb Syndrome, Type Ii

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Cellular components related to Opitz Gbbb Syndrome, Type Ii according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1spindleGO:00058199.7MID1, SPECC1L

Biological processes related to Opitz Gbbb Syndrome, Type Ii according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein localization to microtubuleGO:00353729.4MID1, MID2
2carnitine biosynthetic processGO:00453299.2BBOX1, TMLHE

Molecular functions related to Opitz Gbbb Syndrome, Type Ii according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1iron ion bindingGO:00055069.5BBOX1, TMLHE
2phosphoprotein bindingGO:00512199.3MID1, MID2
3ligase activityGO:00168749.2MID1, MID2, TRIM17
4zinc ion bindingGO:00082708.5BBOX1, MID1, MID2, TRIM17

Sources for Opitz Gbbb Syndrome, Type Ii

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet