MCID: OPT050
MIFTS: 38

Opitz Gbbb Syndrome, Type Ii

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

Aliases & Classifications for Opitz Gbbb Syndrome, Type Ii

MalaCards integrated aliases for Opitz Gbbb Syndrome, Type Ii:

Name: Opitz Gbbb Syndrome, Type Ii 53
Opitz-Frias Syndrome 53 71 28
Hypertelorism with Esophageal Abnormality and Hypospadias 53 71
Chromosome 22q11.2 Deletion Syndrome, Opitz Phenotype 53 71
Opitz Oculogenitolaryngeal Syndrome, Type Ii 53 71
Telecanthus with Associated Abnormalities 53 71
Opitz Gbbb Syndrome, Autosomal Dominant 53 71
Hypertelorism-Hypospadias Syndrome 53 71
Telecanthus-Hypospadias Syndrome 53 71
Hypospadias-Dysphagia Syndrome 53 71
Opitz-G Syndrome, Type Ii 53 71
Opitz Bbbg Syndrome 53 71
Gbbb Syndrome 53 71
Bbb Syndrome 53 71
G Syndrome 53 71
Gbbb2 53 71
Ogs2 53 71
Autosomal Dominant Opitz G/bbb Syndrome 55
Autosomal Dominant Opitz Bbb/g Syndrome 55
Autosomal Dominant Opitz Syndrome 55
Opitz-G Syndrome, Type Ii; Ogs2 53
Opitz Gbbb Syndrome, X-Linked 69
Opitz-G Syndrome, Type 2 69
Opitz Gbbb Syndrome 2 71
Digeorge Syndrome 69
Ados 55

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
opitz gbbb syndrome, type ii:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Opitz Gbbb Syndrome, Type Ii

OMIM : 53 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 opitz gbbb syndrome, type i, 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). The drugs Prednisone and Docetaxel have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and eye.

UniProtKB/Swiss-Prot : 71 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 via clinical synopsis from OMIM:

53
Head And Neck Eyes:
hypertelorism
strabismus
telecanthus
downslanting palpebral fissures
epicanthal folds

Abdomen Gastroin testinal:
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
cleft lip
short lingual frenulum
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:

31 (show top 50) (show all 54)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 HP:0000316
2 agenesis of corpus callosum 31 HP:0001274
3 frontal bossing 31 HP:0002007
4 high palate 31 HP:0000218
5 intellectual disability 31 HP:0001249
6 dysphagia 31 HP:0002015
7 inguinal hernia 31 HP:0000023
8 global developmental delay 31 HP:0001263
9 depressed nasal bridge 31 HP:0005280
10 wide nasal bridge 31 HP:0000431
11 umbilical hernia 31 HP:0001537
12 smooth philtrum 31 HP:0000319
13 prominent forehead 31 HP:0011220
14 cleft palate 31 HP:0000175
15 micrognathia 31 HP:0000347
16 pulmonary arterial hypertension 31 HP:0002092
17 strabismus 31 HP:0000486
18 patent ductus arteriosus 31 HP:0001643
19 epicanthus 31 HP:0000286
20 cryptorchidism 31 HP:0000028
21 atrial septal defect 31 HP:0001631
22 coarctation of aorta 31 HP:0001680
23 ventriculomegaly 31 HP:0002119
24 cerebral cortical atrophy 31 HP:0002120
25 telecanthus 31 HP:0000506
26 hypospadias 31 HP:0000047
27 abnormality of the kidney 31 HP:0000077
28 downslanted palpebral fissures 31 HP:0000494
29 conductive hearing impairment 31 HP:0000405
30 anal atresia 31 HP:0002023
31 ventricular septal defect 31 HP:0001629
32 thin upper lip vermilion 31 HP:0000219
33 tracheoesophageal fistula 31 HP:0002575
34 craniosynostosis 31 occasional (7.5%) HP:0001363
35 bifid scrotum 31 HP:0000048
36 cleft upper lip 31 HP:0000204
37 abnormality of the ureter 31 HP:0000069
38 hiatus hernia 31 HP:0002036
39 weak cry 31 HP:0001612
40 aspiration 31 HP:0002835
41 diastasis recti 31 HP:0001540
42 bifid uvula 31 HP:0000193
43 anal stenosis 31 HP:0002025
44 pulmonary hypoplasia 31 HP:0002089
45 cerebellar vermis hypoplasia 31 HP:0001320
46 generalized hypotonia 31 HP:0001290
47 posteriorly rotated ears 31 HP:0000358
48 absent gallbladder 31 HP:0011467
49 cranial asymmetry 31 HP:0000267
50 widow's peak 31 HP:0000349

Drugs & Therapeutics for Opitz Gbbb Syndrome, Type Ii

Drugs for Opitz Gbbb Syndrome, Type Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
2
Docetaxel Approved May 1996, Investigational Phase 3 114977-28-5 148124 9877265
3 Anti-Inflammatory Agents Phase 3
4 Antimitotic Agents Phase 3
5 Antineoplastic Agents, Hormonal Phase 3
6 glucocorticoids Phase 3
7 Hormone Antagonists Phase 3
8 Hormones Phase 3
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
10
Simvastatin Approved Phase 2,Not Applicable 79902-63-9 54454
11
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
12 tannic acid Approved, Nutraceutical Phase 1, Phase 2
13 Anticholesteremic Agents Phase 2,Not Applicable
14 Antimetabolites Phase 2,Not Applicable
15 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2,Not Applicable
16 Hypolipidemic Agents Phase 2,Not Applicable
17 Lipid Regulating Agents Phase 2,Not Applicable
18 Anesthetics Phase 2
19 Antioxidants Phase 2
20 Protective Agents Phase 2
21 Phytosterol Nutraceutical Phase 1, Phase 2,Not Applicable

Interventional clinical trials:

(show all 17)

# Name Status NCT ID Phase Drugs
1 Docetaxel and Prednisone in Treating Patients With Hormone-Refractory Metastatic Prostate Cancer Completed NCT00255606 Phase 3 docetaxel;prednisone
2 Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome Unknown status NCT00004347 Phase 2
3 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
4 Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
5 Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
6 Prenatal Screening For Smith-Lemli-Opitz Syndrome Completed NCT00070850 Phase 2
7 Cholesterol in ASD: Characterization and Treatment Completed NCT00965068 Phase 1, Phase 2
8 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
9 Novel Treatment for Syndromic Ichthyoses Withdrawn NCT01110642 Phase 2 Lovastatin
10 Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome Unknown status NCT01356420 Not Applicable
11 SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Unknown status NCT01434745 Not Applicable Simvastatin
12 Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
13 Bohring-Opitz Syndrome and ASXL Registry Recruiting NCT03303716
14 Study of Smith-Lemli-Opitz Syndrome Recruiting NCT00001721
15 Study of Inborn Errors of Cholesterol Synthesis and Related Disorders Recruiting NCT00046202
16 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
17 A Long-Term Study of Cholesterol Supplements for Smith-Lemli-Opitz Syndrome Withdrawn NCT01413425

Search 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 28 MID1

Anatomical Context for Opitz Gbbb Syndrome, Type Ii

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

38
Heart, Kidney, Eye

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:

71
# 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)
# 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.783delA (p.Lys261Asnfs) deletion Pathogenic rs398123343 GRCh37 Chromosome X, 10463705: 10463705
11 MID1 NM_033290.3(MID1): c.1798dupC (p.His600Profs) duplication Pathogenic rs398123342 GRCh37 Chromosome X, 10417614: 10417614
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

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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