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

Aliases & Descriptions for Opitz Gbbb Syndrome, Type Ii:

Name: Opitz Gbbb Syndrome, Type Ii 54
Hypertelorism with Esophageal Abnormality and Hypospadias 24 66
Opitz-Frias Syndrome 66 29
Gbbb2 24 66
Chromosome 22q11.2 Deletion Syndrome, Opitz Phenotype 66
Opitz Oculogenitolaryngeal Syndrome, Type Ii 66
Telecanthus with Associated Abnormalities 66
Opitz G/bbb Syndrome, Autosomal Dominant 24
Autosomal Dominant Opitz G/bbb Syndrome 56
Autosomal Dominant Opitz Bbb/g Syndrome 56
Opitz Gbbb Syndrome, Autosomal Dominant 66
Hypertelorism-Hypospadias Syndrome 66
Autosomal Dominant Opitz Syndrome 56
Telecanthus-Hypospadias Syndrome 66
Hypospadias-Dysphagia Syndrome 66
Opitz Gbbb Syndrome, X-Linked 69
Opitz Gbbb Syndrome Type 2 24
Opitz-G Syndrome, Type Ii 66
Opitz G Syndrome, Type Ii 13
Opitz-G Syndrome, Type 2 69
Opitz Gbbb Syndrome 2 66
Opitz Bbbg Syndrome 66
Digeorge Syndrome 69
Gbbb Syndrome 66
Bbb Syndrome 66
G Syndrome 66
Ados 56
Ogs2 66

Characteristics:

HPO:

32
opitz gbbb syndrome, type ii:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 54 145410
Orphanet 56 ORPHA306588
ICD10 via Orphanet 34 Q87.8
MedGen 40 C1801950

Summaries for Opitz Gbbb Syndrome, Type Ii

OMIM : 54 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 hypertelorism, agenesis of corpus callosum and frontal bossing. 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/superpathways are Valine, leucine and isoleucine degradation and Lysine degradation. Affiliated tissues include heart, eye and kidney.

UniProtKB/Swiss-Prot : 66 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

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

Symptoms by clinical synopsis from OMIM:

145410

Clinical features from OMIM:

145410

Human phenotypes related to Opitz Gbbb Syndrome, Type Ii:

32 (show top 50) (show all 54)
id Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 agenesis of corpus callosum 32 HP:0001274
3 frontal bossing 32 HP:0002007
4 high palate 32 HP:0000218
5 intellectual disability 32 HP:0001249
6 muscular hypotonia 32 HP:0001252
7 dysphagia 32 HP:0002015
8 inguinal hernia 32 HP:0000023
9 global developmental delay 32 HP:0001263
10 depressed nasal bridge 32 HP:0005280
11 wide nasal bridge 32 HP:0000431
12 umbilical hernia 32 HP:0001537
13 smooth philtrum 32 HP:0000319
14 prominent forehead 32 HP:0011220
15 cleft palate 32 HP:0000175
16 micrognathia 32 HP:0000347
17 strabismus 32 HP:0000486
18 patent ductus arteriosus 32 HP:0001643
19 epicanthus 32 HP:0000286
20 cryptorchidism 32 HP:0000028
21 coarctation of aorta 32 HP:0001680
22 ventriculomegaly 32 HP:0002119
23 cerebral cortical atrophy 32 HP:0002120
24 telecanthus 32 HP:0000506
25 hypospadias 32 HP:0000047
26 abnormality of the kidney 32 HP:0000077
27 downslanted palpebral fissures 32 HP:0000494
28 conductive hearing impairment 32 HP:0000405
29 anal atresia 32 HP:0002023
30 ventricular septal defect 32 HP:0001629
31 thin upper lip vermilion 32 HP:0000219
32 tracheoesophageal fistula 32 HP:0002575
33 craniosynostosis 32 HP:0001363
34 bifid scrotum 32 HP:0000048
35 cleft upper lip 32 HP:0000204
36 abnormality of the ureter 32 HP:0000069
37 hiatus hernia 32 HP:0002036
38 weak cry 32 HP:0001612
39 aspiration 32 HP:0002835
40 diastasis recti 32 HP:0001540
41 bifid uvula 32 HP:0000193
42 anal stenosis 32 HP:0002025
43 pulmonary hypoplasia 32 HP:0002089
44 cerebellar vermis hypoplasia 32 HP:0001320
45 absent gallbladder 32 HP:0011467
46 cranial asymmetry 32 HP:0000267
47 posteriorly rotated ears 32 HP:0000358
48 widow's peak 32 HP:0000349
49 aplasia/hypoplasia of the cerebellar vermis 32 HP:0006817
50 short lingual frenulum 32 HP:0000200

Drugs & Therapeutics for Opitz Gbbb Syndrome, Type Ii

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

Genetic Tests for Opitz Gbbb Syndrome, Type Ii

Genetic tests related to Opitz Gbbb Syndrome, Type Ii:

id Genetic test Affiliating Genes
1 Opitz-Frias Syndrome 29
2 Opitz Gbbb Syndrome Type 2 24 SPECC1L
3 Opitz G/bbb Syndrome, Autosomal Dominant 24

Anatomical Context for Opitz Gbbb Syndrome, Type Ii

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

39
Heart, Eye, Kidney

Publications for Opitz Gbbb Syndrome, Type Ii

Variations for Opitz Gbbb Syndrome, Type Ii

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

66
id Symbol AA change Variation ID SNP ID
1 SPECC1L p.Thr397Pro VAR_073384
2 SPECC1L p.Gly1083Ser VAR_073385

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

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, Type Ii

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

Pathways for Opitz Gbbb Syndrome, Type Ii

Pathways related to Opitz Gbbb Syndrome, Type Ii 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, Type Ii

Biological processes related to Opitz Gbbb Syndrome, Type Ii 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, Type Ii 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, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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