GBBB2
MCID: OPT050
MIFTS: 45

Opitz Gbbb Syndrome, Type Ii (GBBB2)

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

Aliases & Classifications for Opitz Gbbb Syndrome, Type Ii

MalaCards integrated aliases for Opitz Gbbb Syndrome, Type Ii:

Name: Opitz Gbbb Syndrome, Type Ii 57
Opitz-Frias Syndrome 57 75 29 6
Hypertelorism with Esophageal Abnormality and Hypospadias 57 75
Chromosome 22q11.2 Deletion Syndrome, Opitz Phenotype 57 75
Opitz Oculogenitolaryngeal Syndrome, Type Ii 57 75
Telecanthus with Associated Abnormalities 57 75
Opitz Gbbb Syndrome, Autosomal Dominant 57 75
Hypertelorism-Hypospadias Syndrome 57 75
Telecanthus-Hypospadias Syndrome 57 75
Hypospadias-Dysphagia Syndrome 57 75
Opitz-G Syndrome, Type Ii 57 75
Opitz Bbbg Syndrome 57 75
Gbbb Syndrome 57 75
Bbb Syndrome 57 75
G Syndrome 57 75
Gbbb2 57 75
Ogs2 57 75
Autosomal Dominant Opitz G/bbb Syndrome 59
Autosomal Dominant Opitz Bbb/g Syndrome 59
Autosomal Dominant Opitz Syndrome 59
Opitz-G Syndrome, Type Ii; Ogs2 57
Opitz Gbbb Syndrome, X-Linked 73
Opitz-G Syndrome, Type 2 73
Opitz Gbbb Syndrome 2 75
Digeorge Syndrome 73
Ados 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
can also be caused by contiguous gene deletion on chromosome 22q11.2


HPO:

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


Classifications:



Summaries for Opitz Gbbb Syndrome, Type Ii

OMIM : 57 Features of the Opitz GBBB syndrome include hypertelorism or telecanthus; laryngotracheoesophageal cleft; clefts of lip, palate, and uvula; swallowing difficulty and hoarse cry; genitourinary defects, especially hypospadias in males and splayed labia majora in females; mental retardation; developmental delay; and congenital heart defects. The Opitz GBBB syndrome was earlier thought to be 2 separate X-linked syndromes called the G syndrome and the BBB syndrome; both were listed in the X-linked catalog as recently as the seventh edition of MIM (1986). The Opitz GBBB syndrome is genetically heterogeneous, with both autosomal dominant and X-linked (300000) forms. Robin et al. (1996) compared the phenotypic features of the X-linked and autosomal forms. They found that anteverted nares and posterior pharyngeal cleft were seen only in the X-linked form. However, all other manifestations of the syndrome, such as hypertelorism, swallowing difficulties, hypospadias, and developmental delay, were seen in both forms. (145410)

MalaCards based summary : Opitz Gbbb Syndrome, Type Ii, also known as opitz-frias syndrome, is related to opitz-gbbb syndrome and hypertelorism. An important gene associated with Opitz Gbbb Syndrome, Type Ii is SPECC1L (Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1 Like). Affiliated tissues include heart, thymus and kidney, and related phenotypes are hypertelorism and agenesis of corpus callosum

UniProtKB/Swiss-Prot : 75 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

Diseases in the Opitz-Gbbb Syndrome family:

Opitz Gbbb Syndrome, Type Ii Opitz Gbbb Syndrome, Type I

Diseases related to Opitz Gbbb Syndrome, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 opitz-gbbb syndrome 32.2 SPECC1L MID1
2 hypertelorism 30.0 SPECC1L MID1
3 hypospadias 29.8 SPECC1L MID1
4 x-linked opitz g/bbb syndrome 12.2
5 opitz gbbb syndrome, type i 11.6
6 adenylosuccinase deficiency 11.5
7 digeorge syndrome 11.2
8 telecanthus 11.1
9 hypertelorism, teebi type 11.1
10 adrenoleukodystrophy 11.1
11 amenorrhea-galactorrhea syndrome 11.0
12 hyperprolactinemia 11.0
13 ahumada del castillo syndrome 11.0
14 ring chromosome 22 10.3
15 osteopetrosis 10.2
16 dysphagia 10.2
17 autism 10.1
18 patent ductus arteriosus 1 10.1
19 autism spectrum disorder 10.1
20 varicocele 10.1
21 velocardiofacial syndrome 10.1
22 heart disease 10.0
23 influenza 10.0
24 diaphragmatic hernia, congenital 9.9
25 wolf-hirschhorn syndrome 9.9
26 exstrophy of bladder 9.9
27 chylothorax, congenital 9.9
28 polyhydramnios 9.9
29 chromosome 4p deletion 9.9
30 alzheimer disease 9.8
31 amyotrophic lateral sclerosis 1 9.8
32 arteries, anomalies of 9.8
33 breast cancer 9.8
34 orthostatic intolerance 9.8
35 pulmonary disease, chronic obstructive 9.8
36 ovarian hyperstimulation syndrome 9.8
37 malaria 9.8
38 craniosynostosis 9.8
39 hydrocephalus 9.8
40 liver cirrhosis 9.8
41 filariasis 9.8
42 filarial elephantiasis 9.8
43 hellp syndrome 9.8
44 patent foramen ovale 9.8
45 thrombocytosis 9.8
46 lateral sclerosis 9.8
47 renal artery disease 9.8
48 acute pancreatitis 9.8
49 empty sella syndrome 9.8
50 thrombophlebitis 9.8

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 via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
strabismus
telecanthus
downslanting palpebral fissures
epicanthal folds

Abdomen Gastrointestinal:
dysphagia
diastasis recti
imperforate anus
hiatal hernia

Head And Neck Face:
prominent forehead
micrognathia
flat philtrum

Cardiovascular Vascular:
patent ductus arteriosus

Cardiovascular Heart:
ventricular septal defect
congenital heart defect

Genitourinary External Genitalia Male:
bifid scrotum
hypospadias (in some patients)

Head And Neck Head:
cranial asymmetry

Head And Neck Ears:
conductive hearing loss
posteriorly rotated auricles

Abdomen Biliary Tract:
agenesis of the gallbladder

Genitourinary Kidneys:
renal anomalies

Skeletal Skull:
craniosynostosis (in some patients)

Neurologic Central Nervous System:
agenesis of corpus callosum
ventriculomegaly
developmental delay
hypotonia
mental retardation
more
Abdomen External Features:
inguinal hernia
umbilical hernia

Head And Neck Mouth:
cleft palate
bifid uvula
short lingual frenulum
cleft lip
high-arched palate
more
Genitourinary Internal Genitalia Male:
cryptorchidism

Respiratory Airways:
tracheoesophageal fistula
aspiration

Respiratory Lung:
pulmonary hypoplasia

Skin Nails Hair Hair:
widow's peak

Head And Neck Nose:
broad, flat nasal bridge

Genitourinary External Genitalia Female:
splayed posterior labia majora

Genitourinary Ureters:
ureteral anomalies

Voice:
weak, hoarse cry


Clinical features from OMIM:

145410

Human phenotypes related to Opitz Gbbb Syndrome, Type Ii:

32 (show top 50) (show all 55)
# 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 pulmonary arterial hypertension 32 HP:0002092
18 strabismus 32 HP:0000486
19 patent ductus arteriosus 32 HP:0001643
20 epicanthus 32 HP:0000286
21 cryptorchidism 32 HP:0000028
22 atrial septal defect 32 HP:0001631
23 coarctation of aorta 32 HP:0001680
24 ventriculomegaly 32 HP:0002119
25 cerebral cortical atrophy 32 HP:0002120
26 telecanthus 32 HP:0000506
27 hypospadias 32 HP:0000047
28 abnormality of the kidney 32 HP:0000077
29 downslanted palpebral fissures 32 HP:0000494
30 conductive hearing impairment 32 HP:0000405
31 anal atresia 32 HP:0002023
32 ventricular septal defect 32 HP:0001629
33 thin upper lip vermilion 32 HP:0000219
34 tracheoesophageal fistula 32 HP:0002575
35 craniosynostosis 32 occasional (7.5%) HP:0001363
36 bifid scrotum 32 HP:0000048
37 cleft upper lip 32 HP:0000204
38 abnormality of the ureter 32 HP:0000069
39 hiatus hernia 32 HP:0002036
40 weak cry 32 HP:0001612
41 aspiration 32 HP:0002835
42 diastasis recti 32 HP:0001540
43 bifid uvula 32 HP:0000193
44 pulmonary hypoplasia 32 HP:0002089
45 generalized hypotonia 32 HP:0001290
46 anal stenosis 32 HP:0002025
47 cerebellar vermis hypoplasia 32 HP:0001320
48 posteriorly rotated ears 32 HP:0000358
49 absent gallbladder 32 HP:0011467
50 cranial asymmetry 32 HP:0000267

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:

# Genetic test Affiliating Genes
1 Opitz-Frias Syndrome 29 MID1

Anatomical Context for Opitz Gbbb Syndrome, Type Ii

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

41
Heart, Thymus, Kidney, Bone, Eye, Lung

Publications for Opitz Gbbb Syndrome, Type Ii

Articles related to Opitz Gbbb Syndrome, Type Ii:

# Title Authors Year
1
Congenital alacrima in a patient with G (Opitz Frias) syndrome. ( 8834259 )
1996
2
The G syndrome/Opitz oculo-genital-laryngeal syndrome/Opitz BBB/G syndrome/Opitz-Frias syndrome. ( 7745346 )
1995
3
Opitz-Frias syndrome. A case with potentially hazardous anaesthetic implications. ( 4083447 )
1985

Variations for Opitz Gbbb Syndrome, Type Ii

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

75
# 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 top 50) (show all 55)
# Gene Variation Type Significance SNP ID Assembly Location
1 MID1 NM_000381.3: c.1314_1316delGAT deletion Pathogenic
2 MID1 MID1, 24-BP DUP duplication Pathogenic
3 MID1 NM_000381.3: c.1558dupG duplication 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.1877T> C (p.Leu626Pro) single nucleotide variant Pathogenic rs28934611 GRCh38 Chromosome X, 10449495: 10449495
6 MID1 NM_033290.3(MID1): c.343G> T (p.Glu115Ter) single nucleotide variant Pathogenic rs104894865 GRCh37 Chromosome X, 10535245: 10535245
7 MID1 NM_033290.3(MID1): c.343G> T (p.Glu115Ter) single nucleotide variant Pathogenic rs104894865 GRCh38 Chromosome X, 10567205: 10567205
8 MID1 MID1, EX1 DUP duplication Pathogenic
9 MID1 NM_033290.3(MID1): c.884T> C (p.Leu295Pro) single nucleotide variant Pathogenic rs104894866 GRCh37 Chromosome X, 10450649: 10450649
10 MID1 NM_033290.3(MID1): c.884T> C (p.Leu295Pro) single nucleotide variant Pathogenic rs104894866 GRCh38 Chromosome X, 10482609: 10482609
11 MID1 NM_000381.3: c.1546_1547delAG deletion Pathogenic
12 MID1 NM_033290.3(MID1): c.712G> T (p.Glu238Ter) single nucleotide variant Pathogenic rs387906719 GRCh37 Chromosome X, 10491176: 10491176
13 MID1 NM_033290.3(MID1): c.712G> T (p.Glu238Ter) single nucleotide variant Pathogenic rs387906719 GRCh38 Chromosome X, 10523136: 10523136
14 MID1 NM_033290.3(MID1): c.783delA (p.Lys261Asnfs) deletion Pathogenic rs398123343 GRCh37 Chromosome X, 10463705: 10463705
15 MID1 NM_033290.3(MID1): c.783delA (p.Lys261Asnfs) deletion Pathogenic rs398123343 GRCh38 Chromosome X, 10495665: 10495665
16 MID1 NM_000381.3(MID1): c.1798dupC (p.His600Profs) duplication Pathogenic rs398123342 GRCh37 Chromosome X, 10417614: 10417614
17 MID1 NM_000381.3(MID1): c.1798dupC (p.His600Profs) duplication Pathogenic rs398123342 GRCh38 Chromosome X, 10449574: 10449574
18 MID1 NM_000381.3(MID1): c.2000C> T (p.Pro667Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs147106995 GRCh37 Chromosome X, 10417412: 10417412
19 MID1 NM_000381.3(MID1): c.2000C> T (p.Pro667Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs147106995 GRCh38 Chromosome X, 10449372: 10449372
20 MID1 NM_000381.3(MID1): c.1302_1305dupTGAT (p.Ser436Terfs) duplication Pathogenic rs786200982 GRCh37 Chromosome X, 10427828: 10427831
21 MID1 NM_000381.3(MID1): c.1302_1305dupTGAT (p.Ser436Terfs) duplication Pathogenic rs786200982 GRCh38 Chromosome X, 10459788: 10459791
22 SPECC1L NM_015330.4(SPECC1L): c.1189A> C (p.Thr397Pro) single nucleotide variant Pathogenic rs786201030 GRCh38 Chromosome 22, 24322169: 24322169
23 SPECC1L NM_015330.4(SPECC1L): c.1189A> C (p.Thr397Pro) single nucleotide variant Pathogenic rs786201030 GRCh37 Chromosome 22, 24718137: 24718137
24 SPECC1L NM_015330.4(SPECC1L): c.3247G> A (p.Gly1083Ser) single nucleotide variant Pathogenic rs786201031 GRCh38 Chromosome 22, 24412690: 24412690
25 SPECC1L NM_015330.4(SPECC1L): c.3247G> A (p.Gly1083Ser) single nucleotide variant Pathogenic rs786201031 GRCh37 Chromosome 22, 24808658: 24808658
26 MID1 NM_033290.3(MID1): c.1447_1447+1insAACA insertion Pathogenic rs797044786 GRCh37 Chromosome X, 10427685: 10427686
27 MID1 NM_033290.3(MID1): c.1447_1447+1insAACA insertion Pathogenic rs797044786 GRCh38 Chromosome X, 10459645: 10459646
28 MID1 NM_033290.3(MID1): c.1656-8_1657delTTCCGCAGGT deletion Pathogenic GRCh38 Chromosome X, 10449715: 10449724
29 MID1 NM_033290.3(MID1): c.1656-8_1657delTTCCGCAGGT deletion Pathogenic GRCh37 Chromosome X, 10417755: 10417764
30 MID1 NM_000381.3(MID1): c.1361A> G (p.Gln454Arg) single nucleotide variant Conflicting interpretations of pathogenicity GRCh37 Chromosome X, 10427772: 10427772
31 MID1 NM_000381.3(MID1): c.1361A> G (p.Gln454Arg) single nucleotide variant Conflicting interpretations of pathogenicity GRCh38 Chromosome X, 10459732: 10459732
32 MID1 NM_001193278.1(MID1): c.794A> G (p.Gln265Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 10501522: 10501522
33 MID1 NM_001193278.1(MID1): c.794A> G (p.Gln265Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 10469562: 10469562
34 MID1 NM_000381.3(MID1): c.1483C> T (p.Arg495Ter) single nucleotide variant Pathogenic rs745554420 GRCh37 Chromosome X, 10423082: 10423082
35 MID1 NM_000381.3(MID1): c.1483C> T (p.Arg495Ter) single nucleotide variant Pathogenic rs745554420 GRCh38 Chromosome X, 10455042: 10455042
36 MID1 NM_000381.3(MID1): c.1881C> A (p.Tyr627Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 10417531: 10417531
37 MID1 NM_000381.3(MID1): c.1881C> A (p.Tyr627Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 10449491: 10449491
38 MID1 NM_000381.3(MID1): c.1725G> A (p.Trp575Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 10449647: 10449647
39 MID1 NM_000381.3(MID1): c.1725G> A (p.Trp575Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 10417687: 10417687
40 MID1 NM_000381.3(MID1): c.1663A> G (p.Ile555Val) single nucleotide variant Pathogenic rs398123341 GRCh37 Chromosome X, 10417749: 10417749
41 MID1 NM_000381.3(MID1): c.1663A> G (p.Ile555Val) single nucleotide variant Pathogenic rs398123341 GRCh38 Chromosome X, 10449709: 10449709
42 MID1 NM_033290.3(MID1): c.1608_1611dup (p.Ser538Terfs) duplication Pathogenic GRCh38 Chromosome X, 10454914: 10454917
43 MID1 NM_033290.3(MID1): c.1608_1611dup (p.Ser538Terfs) duplication Pathogenic GRCh37 Chromosome X, 10422954: 10422957
44 MID1 NM_000381.3(MID1): c.1454delC (p.Pro485Hisfs) deletion Likely pathogenic GRCh37 Chromosome X, 10423111: 10423111
45 MID1 NM_000381.3(MID1): c.1454delC (p.Pro485Hisfs) deletion Likely pathogenic GRCh38 Chromosome X, 10455071: 10455071
46 MID1 NM_000381.3(MID1): c.1393G> C (p.Ala465Pro) single nucleotide variant Pathogenic GRCh37 Chromosome X, 10427740: 10427740
47 MID1 NM_000381.3(MID1): c.1393G> C (p.Ala465Pro) single nucleotide variant Pathogenic GRCh38 Chromosome X, 10459700: 10459700
48 MID1 NM_000381.3(MID1): c.922delC (p.Arg308Glyfs) deletion Likely pathogenic GRCh37 Chromosome X, 10450611: 10450611
49 MID1 NM_000381.3(MID1): c.922delC (p.Arg308Glyfs) deletion Likely pathogenic GRCh38 Chromosome X, 10482571: 10482571
50 MID1 NM_000381.3(MID1): c.829C> T (p.Arg277Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 10495619: 10495619

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

GO Terms for Opitz Gbbb Syndrome, Type Ii

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 8.96 MID1 SPECC1L
2 spindle GO:0005819 8.62 MID1 SPECC1L

Sources for Opitz Gbbb Syndrome, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
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44 MeSH
45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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