GBBB2
MCID: OPT050
MIFTS: 39

Opitz Gbbb Syndrome, Type Ii (GBBB2) malady

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Fetal diseases, Rare 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 52
Hypertelorism with Esophageal Abnormality and Hypospadias 24 70
Opitz-Frias Syndrome 70 27
Gbbb2 24 70
Chromosome 22q11.2 Deletion Syndrome, Opitz Phenotype 70
Opitz Oculogenitolaryngeal Syndrome, Type Ii 70
Telecanthus with Associated Abnormalities 70
Opitz G/bbb Syndrome, Autosomal Dominant 24
Autosomal Dominant Opitz Bbb/g Syndrome 54
Autosomal Dominant Opitz G/bbb Syndrome 54
Opitz Gbbb Syndrome, Autosomal Dominant 70
Hypertelorism-Hypospadias Syndrome 70
Autosomal Dominant Opitz Syndrome 54
Telecanthus-Hypospadias Syndrome 70
 
Hypospadias-Dysphagia Syndrome 70
Opitz Gbbb Syndrome, X-Linked 68
Opitz Gbbb Syndrome Type 2 24
Opitz G Syndrome, Type Ii 12
Opitz-G Syndrome, Type Ii 70
Opitz-G Syndrome, Type 2 68
Opitz Gbbb Syndrome 2 70
Opitz Bbbg Syndrome 70
Digeorge Syndrome 68
Gbbb Syndrome 70
Bbb Syndrome 70
G Syndrome 70
Ogs2 70
Ados 54

Characteristics:

HPO:

64
opitz gbbb syndrome, type ii:
Inheritance: autosomal dominant inheritance
Onset and clinical course: infantile onset

Classifications:



External Ids:

OMIM52 145410
Orphanet54 ORPHA306588
ICD10 via Orphanet31 Q87.8
MedGen37 C1801950

Summaries for Opitz Gbbb Syndrome, Type Ii

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OMIM:52 Features of the Opitz GBBB syndrome include hypertelorism or telecanthus; laryngotracheoesophageal cleft; clefts of... (145410) more...

MalaCards based summary: Opitz Gbbb Syndrome, Type Ii, also known as hypertelorism with esophageal abnormality and hypospadias, is related to x-linked opitz g/bbb syndrome and velocardiofacial syndrome, and has symptoms including inguinal hernia, cryptorchidism and hypospadias. 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, kidney and eye.

UniProtKB/Swiss-Prot:70 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 & Phenotypes 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:

 64 (show all 54)
id Description HPO Frequency HPO Source Accession
1 inguinal hernia64 HP:0000023
2 cryptorchidism64 HP:0000028
3 hypospadias64 HP:0000047
4 bifid scrotum64 HP:0000048
5 abnormality of the ureter64 HP:0000069
6 abnormality of the kidney64 HP:0000077
7 cleft palate64 HP:0000175
8 bifid uvula64 HP:0000193
9 short lingual frenulum64 HP:0000200
10 cleft upper lip64 HP:0000204
11 high palate64 HP:0000218
12 thin upper lip vermilion64 HP:0000219
13 cranial asymmetry64 HP:0000267
14 epicanthus64 HP:0000286
15 hypertelorism64 HP:0000316
16 smooth philtrum64 HP:0000319
17 micrognathia64 HP:0000347
18 widow's peak64 HP:0000349
19 posteriorly rotated ears64 HP:0000358
20 conductive hearing impairment64 HP:0000405
21 wide nasal bridge64 HP:0000431
22 strabismus64 HP:0000486
23 downslanted palpebral fissures64 HP:0000494
24 telecanthus64 HP:0000506
25 intellectual disability64 HP:0001249
26 muscular hypotonia64 HP:0001252
27 global developmental delay64 HP:0001263
28 agenesis of corpus callosum64 HP:0001274
29 cerebellar vermis hypoplasia64 HP:0001320
30 craniosynostosis64 HP:0001363
31 umbilical hernia64 HP:0001537
32 diastasis recti64 HP:0001540
33 weak cry64 HP:0001612
34 ventricular septal defect64 HP:0001629
35 atrial septal defect64 HP:0001631
36 patent ductus arteriosus64 HP:0001643
37 coarctation of aorta64 HP:0001680
38 frontal bossing64 HP:0002007
39 dysphagia64 HP:0002015
40 anal atresia64 HP:0002023
41 anal stenosis64 HP:0002025
42 hiatus hernia64 HP:0002036
43 pulmonary hypoplasia64 HP:0002089
44 pulmonary arterial hypertension64 HP:0002092
45 ventriculomegaly64 HP:0002119
46 cerebral cortical atrophy64 HP:0002120
47 cavum septum pellucidum64 HP:0002389
48 tracheoesophageal fistula64 HP:0002575
49 aspiration64 HP:0002835
50 depressed nasal bridge64 HP:0005280
51 aplasia/hypoplasia of the cerebellar vermis64 HP:0006817
52 laryngeal cleft64 HP:0008751
53 prominent forehead64 HP:0011220
54 absent gallbladder64 HP:0011467

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-Frias Syndrome27
2 Opitz Gbbb Syndrome Type 224 SPECC1L
3 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:

36
Heart, Kidney, Eye

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:

70
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 GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.5BBOX1, TMLHE
29.5BBOX1, TMLHE

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

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

idNameGO IDScoreTop Affiliating Genes
1carnitine biosynthetic processGO:00453299.9BBOX1, TMLHE
2negative regulation of microtubule depolymerizationGO:00070269.8MID1, SPECC1L
3protein localization to microtubuleGO:00353729.5MID1, MID2

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

idNameGO IDScoreTop Affiliating Genes
1phosphoprotein bindingGO:005121910.3MID1, MID2
2dioxygenase activityGO:005121310.2BBOX1, TMLHE
3iron ion bindingGO:000550610.2BBOX1, TMLHE
4zinc ion bindingGO:00082708.3BBOX1, MID1, MID2, TRIM17

Sources for Opitz Gbbb Syndrome, Type Ii

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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