GBBB2
MCID: OPT050
MIFTS: 47

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 29 13 6
Hypertelorism with Esophageal Abnormality and Hypospadias 57 72 6
Chromosome 22q11.2 Deletion Syndrome, Opitz Phenotype 57 72
Opitz Oculogenitolaryngeal Syndrome, Type Ii 57 72
Telecanthus with Associated Abnormalities 57 72
Opitz Gbbb Syndrome, Autosomal Dominant 57 72
Hypertelorism-Hypospadias Syndrome 57 72
Telecanthus-Hypospadias Syndrome 57 72
Hypospadias-Dysphagia Syndrome 57 72
Opitz-G Syndrome, Type Ii 57 72
Opitz-Frias Syndrome 57 72
Opitz Bbbg Syndrome 57 72
Gbbb Syndrome 57 72
Bbb Syndrome 57 72
G Syndrome 57 72
Gbbb2 57 72
Ogs2 57 72
Opitz-G Syndrome, Type Ii; Ogs2 57
Opitz Gbbb Syndrome, X-Linked 70
Opitz Gbbb Syndrome Type Ii 12
Opitz-G Syndrome, Type 2 70
Opitz Gbbb Syndrome 2 72
Digeorge Syndrome 70

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


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) (Updated 20-May-2021)

MalaCards based summary : Opitz Gbbb Syndrome, Type Ii, also known as hypertelorism with esophageal abnormality and hypospadias, 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). The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include thymus, eye and heart, and related phenotypes are craniosynostosis and intellectual disability

Disease Ontology : 12 An Opitz-GBBB syndrome that has material basis in mutation in heterozygous mutation in the SPECC1L gene on chromosome 22q11.2 or heterozygous deletion at chromosome 22q11.2.

UniProtKB/Swiss-Prot : 72 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 63)
# Related Disease Score Top Affiliating Genes
1 opitz-gbbb syndrome 31.3 SPECC1L-ADORA2A SPECC1L MID1
2 hypertelorism 29.4 SPECC1L-ADORA2A SPECC1L MID1
3 opitz gbbb syndrome, type i 11.7
4 digeorge syndrome 11.4
5 x-linked opitz g/bbb syndrome 11.2
6 amenorrhea-galactorrhea syndrome 11.0
7 hyperprolactinemia 11.0
8 ahumada del castillo syndrome 11.0
9 hypospadias 10.3
10 dysphagia 10.3
11 ring chromosome 22 10.2
12 ring chromosome 10.2
13 alacrima, achalasia, and mental retardation syndrome 10.2
14 congenital alacrima 10.1
15 cerebral palsy 10.0
16 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 10.0
17 frias syndrome 10.0
18 cleft lip 10.0
19 velocardiofacial syndrome 9.9
20 abnormal hair, joint laxity, and developmental delay 9.9
21 opitz-kaveggia syndrome 9.9
22 tracheomalacia 9.9
23 epicanthus 9.9
24 diaphragmatic hernia, congenital 9.9
25 teeth, supernumerary 9.9
26 volvulus of midgut 9.9
27 widow's peak 9.9
28 wolf-hirschhorn syndrome 9.9
29 chylothorax, congenital 9.9
30 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
31 tooth agenesis 9.9
32 bladder exstrophy 9.9
33 heart disease 9.9
34 ventricular septal defect 9.9
35 heart septal defect 9.9
36 double outlet right ventricle 9.9
37 polyhydramnios 9.9
38 hypotonia 9.9
39 cleft palate, isolated 9.8
40 cryptorchidism, unilateral or bilateral 9.8
41 cleft lip/palate 9.8
42 telecanthus 9.8
43 anus, imperforate 9.8
44 laryngeal cleft 9.8
45 ankyloglossia with or without tooth anomalies 9.6
46 gastroesophageal reflux 9.6
47 macroglossia 9.6
48 vesicoureteral reflux 1 9.6
49 cleft larynx, posterior 9.6
50 macrocephaly/megalencephaly syndrome, autosomal recessive 9.6

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

Human phenotypes related to Opitz Gbbb Syndrome, Type Ii:

31 (show top 50) (show all 55)
# Description HPO Frequency HPO Source Accession
1 craniosynostosis 31 occasional (7.5%) HP:0001363
2 intellectual disability 31 HP:0001249
3 agenesis of corpus callosum 31 HP:0001274
4 frontal bossing 31 HP:0002007
5 dysphagia 31 HP:0002015
6 high palate 31 HP:0000218
7 global developmental delay 31 HP:0001263
8 depressed nasal bridge 31 HP:0005280
9 inguinal hernia 31 HP:0000023
10 hypertelorism 31 HP:0000316
11 wide nasal bridge 31 HP:0000431
12 umbilical hernia 31 HP:0001537
13 smooth philtrum 31 HP:0000319
14 prominent forehead 31 HP:0011220
15 strabismus 31 HP:0000486
16 cryptorchidism 31 HP:0000028
17 micrognathia 31 HP:0000347
18 epicanthus 31 HP:0000286
19 atrial septal defect 31 HP:0001631
20 coarctation of aorta 31 HP:0001680
21 cerebral cortical atrophy 31 HP:0002120
22 downslanted palpebral fissures 31 HP:0000494
23 conductive hearing impairment 31 HP:0000405
24 anal atresia 31 HP:0002023
25 bifid scrotum 31 HP:0000048
26 cleft upper lip 31 HP:0000204
27 patent ductus arteriosus 31 HP:0001643
28 tracheoesophageal fistula 31 HP:0002575
29 thin upper lip vermilion 31 HP:0000219
30 ventriculomegaly 31 HP:0002119
31 hypospadias 31 HP:0000047
32 telecanthus 31 HP:0000506
33 ventricular septal defect 31 HP:0001629
34 abnormality of the kidney 31 HP:0000077
35 abnormality of the ureter 31 HP:0000069
36 pulmonary arterial hypertension 31 HP:0002092
37 diastasis recti 31 HP:0001540
38 hiatus hernia 31 HP:0002036
39 bifid uvula 31 HP:0000193
40 weak cry 31 HP:0001612
41 anal stenosis 31 HP:0002025
42 pulmonary hypoplasia 31 HP:0002089
43 posteriorly rotated ears 31 HP:0000358
44 cerebellar vermis hypoplasia 31 HP:0001320
45 generalized hypotonia 31 HP:0001290
46 hoarse cry 31 HP:0001615
47 absent gallbladder 31 HP:0011467
48 widow's peak 31 HP:0000349
49 laryngeal cleft 31 HP:0008751
50 aspiration 31 HP:0002835

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
agenesis of corpus callosum
ventriculomegaly
hypotonia
developmental delay
mental retardation
more
Abdomen External Features:
inguinal hernia
umbilical hernia

Head And Neck Face:
prominent forehead
micrognathia
flat philtrum

Genitourinary Internal Genitalia Male:
cryptorchidism

Cardiovascular Vascular:
patent ductus arteriosus

Cardiovascular Heart:
ventricular septal defect
congenital heart defect

Skin Nails Hair Hair:
widow's peak

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)

Abdomen Gastrointestinal:
dysphagia
diastasis recti
imperforate anus
hiatal hernia

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

Head And Neck Mouth:
cleft palate
bifid uvula
short lingual frenulum
cleft lip
thin upper lip
more
Genitourinary External Genitalia Male:
bifid scrotum
hypospadias (in some patients)

Respiratory Airways:
tracheoesophageal fistula
aspiration

Respiratory Lung:
pulmonary hypoplasia

Head And Neck Head:
cranial asymmetry

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 (Updated 20-May-2021)

Drugs & Therapeutics for Opitz Gbbb Syndrome, Type Ii

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

(show top 50) (show all 63)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
3
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
4
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
5 Central Nervous System Stimulants Phase 4
6 Dopamine Agents Phase 4
7 Dopamine Antagonists Phase 4
8 Psychotropic Drugs Phase 4
9 Dopamine Uptake Inhibitors Phase 4
10 Neurotransmitter Agents Phase 4
11 Antipsychotic Agents Phase 4
12
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
13
Parathyroid hormone Approved, Investigational Phase 3 9002-64-6
14 Calcium, Dietary Phase 3
15
Calcium Nutraceutical Phase 3 7440-70-2 271
16
Acetaminophen Approved Phase 1, Phase 2 103-90-2 1983
17
Diphenhydramine Approved, Investigational Phase 1, Phase 2 147-24-0, 58-73-1 3100
18
Promethazine Approved, Investigational Phase 1, Phase 2 60-87-7 4927
19
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
20
Melphalan Approved Phase 2 148-82-3 4053 460612
21
alemtuzumab Approved, Investigational Phase 2 216503-57-0
22
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
23
Daclizumab Investigational, Withdrawn Phase 1, Phase 2 152923-56-3
24 Hormones Phase 2
25 Anesthetics Phase 2
26 Immunosuppressive Agents Phase 2
27 Immunologic Factors Phase 2
28 Antineoplastic Agents, Immunological Phase 2
29 Alkylating Agents Phase 2
30 alpha-Methyltyrosine Phase 2
31
Methylprednisolone Approved, Vet_approved Phase 1 83-43-2 6741
32
Methylprednisolone hemisuccinate Approved Phase 1 2921-57-5
33
Prednisolone Approved, Vet_approved Phase 1 50-24-8 5755
34
Prednisolone acetate Approved, Vet_approved Phase 1 52-21-1
35
Prednisolone phosphate Approved, Vet_approved Phase 1 302-25-0
36
Prednisolone hemisuccinate Experimental Phase 1 2920-86-7
37 Cyclosporins Phase 1
38 Antilymphocyte Serum Phase 1
39 Thymoglobulin Phase 1
40 Methylprednisolone Acetate Phase 1
41
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
42
Clotrimazole Approved, Vet_approved 23593-75-1 2812
43
Mycophenolic acid Approved 24280-93-1 446541
44
Tacrolimus Approved, Investigational 104987-11-3 445643 439492 6473866
45
Basiliximab Approved, Investigational 179045-86-4, 152923-56-3
46 Dopamine agonists
47 Tea
48 Anti-Infective Agents
49 Antibiotics, Antitubercular
50 Anti-Bacterial Agents

Interventional clinical trials:

(show all 37)
# Name Status NCT ID Phase Drugs
1 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome (VCFS), Williams Syndrome (WS)and Fragile X Syndrome Characterization, Treatment and Examining the Connection to Developmental and Molecular Factors Recruiting NCT00768820 Phase 4 methylphenidate, fluoxetin, risperidone
2 Effects of PTH Replacement on Bone in Hypoparathyroidism Terminated NCT00395538 Phase 3 PTH 1-34
3 Phase II Study of Thymus Transplantation in Complete DiGeorge Syndrome #668 Completed NCT00576407 Phase 2
4 Phase I/II Trial of Thymus Transplantation With Immunosuppression, #950 Completed NCT00579527 Phase 1, Phase 2 Rabbit anti-thymocyte globulin;Cyclosporine;Tacrolimus;Methylprednisolone or Prednisolone;Daclizumab;Mycophenolate mofetil
5 Dose Study of Thymus Transplantation in DiGeorge Anomaly, IND 9836, #932.1 Completed NCT00576836 Phase 2
6 A Study of Hematopoietic Stem Cell Transplantation (HSCT) in Immune Function Disorders Using a Reduced Intensity Preparatory Regime Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
7 A Double-Blind, Placebo-Controlled, Multi-Center, Randomized Trial of the Safety and Efficacy of Metyrosine (Demser®) for the Treatment of Psychotic Disorders in Patients With Velo-Cardio-Facial Syndrome Terminated NCT01127503 Phase 2 Metyrosine;Placebo
8 Parathyroid and Thymus Transplantation in DiGeorge Syndrome, #931 Completed NCT00566488 Phase 1
9 Thymus Transplantation With Immunosuppression, #884 Completed NCT00579709 Phase 1
10 A 5-Week, Multi-center, Open-label Study to Assess the Safety and Efficacy of NFC-1 in Subjects Aged 12-17 Years With 22q11.2 Deletion Syndrome and Commonly Associated Neuropsychiatric Conditions (Anxiety, ADHD, ASD) Completed NCT02895906 Phase 1 NFC-1
11 Phase I Serum-Free Cultured Thymus Transplantation in DiGeorge Anomaly, IND9836 Terminated NCT00849888 Phase 1
12 Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome Unknown status NCT00005102
13 Genetic Modifiers for 22q11.2 Syndrome Unknown status NCT00916955
14 Genetics and Psychopathology in the 22q11 Deletion Syndrome Unknown status NCT00161109
15 Intermediate Phenotype and Genetic Mechanisms for Psychosis and Cognitive Disturbance in 22q11.2-Hemideletion Syndrome Completed NCT00105274
16 Resolution of Primary Immune Defect in 22q11.2 Deletion Syndrome Completed NCT02460328
17 A Clinical Study to Evaluate the Relative Clinical Sensitivity, Specificity, and Performance of the a Laboratory Developed Test as a Screening Test for Fetal Chromosomal Aneuploidy, Infectious and Other Diseases, and RhD Genotyping in the General Population of Pregnant Women Completed NCT02787486
18 Middle and Inner Ear Malformation in Children With Velocardiofacial Syndrome Completed NCT00784173
19 Computer-Based Cognitive Remediation in Adolescents With VCFS Completed NCT00917189
20 National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Completed NCT01322165
21 SNP-based Microdeletion and Aneuploidy RegisTry Completed NCT02381457
22 Translational 22q11.2:"Molecular Variants Associated With Schizophrenia: Differential Analysis of Monozygotic Twins With Variable Phenotypic 22q11.2 Microdeletional Syndrom" Completed NCT04141540
23 Research of Thymix Dysgenesis in Prenatal Examination of Deletion 22q11 Syndrome Completed NCT02890472
24 Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes Completed NCT00004351
25 A Remediation Program for Children at High-Risk of Schizophrenia: 22q11.2 Deletion Syndrome Completed NCT01781923
26 Genetic Modifiers of 22q11.2 Deletion Syndrome Recruiting NCT00556530
27 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
28 First Trimester Screening for Trisomy 21, 18, 13 and 22q11.2 Deletion Syndrome - ReFaPo02 Recruiting NCT03375359
29 Study of Arithmetic Abilities of Children With 22q11.2 Deletion Syndrome Aged From 4 to 11 Years Old Recruiting NCT04373226
30 Effects of Modulation of the Dopaminergic System Using Methylphenidate on Memory and Executive Processes in Individuals With 22q11.2 Deletion Syndrome Recruiting NCT04647500 Concerta
31 Is Thymus Size of Infants Who Born to COVID-19 Positive Mothers Associated With Neonatal Morbidities? Recruiting NCT04470739
32 Effects of Modulation of the Dopaminergic System Using Risperidone on Memory and Executive Processes in Individuals With 22q11.2 Deletion Syndrome Recruiting NCT04639960 Risperdal;Placebo
33 Characterize the Behavioral Prodromes of Psychotic Disorders in Children With 22q11.2DS Aged From 4 to 13 Years Old Recruiting NCT04639388
34 Whole Blood Specimen Collection From Pregnant Subjects Active, not recruiting NCT02430584
35 Safety and Efficacy of Thymus Transplantation in Complete DiGeorge Anomaly, IND#9836 Available NCT01220531 Rabbit anti-thymocyte globulin;Cyclosporine;Tacrolimus;Methylprednisolone or Prednisolone;Basiliximab;Mycophenolate mofetil
36 Incidence of Infection in the Patient With DiGeorge Syndrome Following Surgery for Congenital Heart Disease Terminated NCT00278005
37 Social Cognition Training and Cognitive Remediation : a New Tool for 22q11.2 Deletion Syndrome Terminated NCT03284060

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 Gbbb Syndrome, Type Ii 29 SPECC1L

Anatomical Context for Opitz Gbbb Syndrome, Type Ii

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

40
Thymus, Eye, Heart, Whole Blood, Bone, Kidney, Brain

Publications for Opitz Gbbb Syndrome, Type Ii

Articles related to Opitz Gbbb Syndrome, Type Ii:

(show top 50) (show all 58)
# Title Authors PMID Year
1
Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome. 57 6
25412741 2015
2
G syndrome: an unusual family. 57 6
3228142 1988
3
G syndrome (hypertelorism with esophageal abnormality and hypospadias, or hypospadias-dysphagia, or "Opitz-Frias" or "Opitz-G" syndrome)--perspective in 1987 and bibliography. 57 61
3322001 1987
4
Molecular dynamics simulation reveals insights into the mechanism of unfolding by the A130T/V mutations within the MID1 zinc-binding Bbox1 domain. 6
25874572 2015
5
MID1 catalyzes the ubiquitination of protein phosphatase 2A and mutations within its Bbox1 domain disrupt polyubiquitination of alpha4 but not of PP2Ac. 6
25207814 2014
6
Hypospadias associated with hypertelorism, the mildest phenotype of Opitz syndrome. 6
21326312 2011
7
MID1 mutations in patients with X-linked Opitz G/BBB syndrome. 6
18360914 2008
8
Active transport of the ubiquitin ligase MID1 along the microtubules is regulated by protein phosphatase 2A. 6
18949047 2008
9
A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patients. 57
18000907 2007
10
MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified. 6
17221865 2007
11
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. 6
15558842 2005
12
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome. 6
12545276 2003
13
New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome. 6
11030761 2000
14
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. 6
9354791 1997
15
Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature. 57
8882794 1996
16
Opitz GBBB syndrome and the 22q11.2 deletion. 57
8882795 1996
17
Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome. 57
8882786 1996
18
Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2. 57
7493033 1995
19
Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion. 57
8849001 1995
20
Distal deletion of chromosome 13 in a child with the "opitz" GBBB syndrome. 57
8849002 1995
21
Opitz BBBG syndrome: new family with late-onset, serious complication. 57
7586655 1995
22
Brain magnetic resonance imaging findings in the Opitz G/BBB syndrome: extension of the spectrum of midline brain anomalies. 57
8362914 1993
23
Posterior scalp defects in Opitz syndrome. Another symptom related to a defect in midline development. 57
1493644 1992
24
CNS midline anomalies in the Opitz G/BBB syndrome: report on 12 Brazilian patients. 57
1415340 1992
25
Opitz (BBB/G) syndrome: oral manifestations. 57
1605255 1992
26
Apparent Opitz BBBG syndrome with a partial duplication of 5p. 57
1897571 1991
27
Ring chromosome 22 karyotype in a patient with Opitz (BBBG) syndrome. 57
2260575 1990
28
BBBG syndrome or Opitz syndrome: new family. 57
2688419 1989
29
Hereditary agenesis of nasal cartilage. Surgical implications. 57
2751860 1989
30
G syndrome and its otolaryngologic manifestations. 57
2647017 1989
31
The telecanthus-hypospadias syndrome. 57
3050099 1988
32
Opitz oculo-genital-laryngeal syndrome (Opitz BBB/G compound syndrome) 57
3189406 1988
33
Discordant expression of the G syndrome in monozygotic twins. 57
3400731 1988
34
Further delineation of the G syndrome: a manageable genetic cause of infantile dysphagia. 57
3351901 1988
35
Congenital anal anomalies in two families with the Opitz G syndrome. 57
3430544 1987
36
A girl with G syndrome and agenesis of the corpus callosum. 57
3425610 1987
37
Sudden death in childhood in a case of the G syndrome. 57
3425611 1987
38
Apparent G syndrome presenting as neck and upper limb dystonia and severe gastroesophageal reflux. 57
3425612 1987
39
The Opitz syndrome: a new designation for the clinically indistinguishable BBB and G syndromes. 57
2827473 1987
40
Male-to-male transmission of the hypertelorism-hypospadias (BBB) syndrome. 57
4038851 1985
41
Male to male transmission of the G syndrome. 57
6467669 1984
42
Male to male transmission of the G syndrome. 57
6652958 1983
43
A case of the G syndrome. 57
6842553 1983
44
The hypertelorism-hypospadias syndrome. 57
6831760 1983
45
The G syndrome of dysphagia, ocular hypertelorism and hypospadias. 57
7296939 1981
46
Brief Clinical Report: coloboma hypospadias. 57
7246606 1981
47
The G syndrome--additional observations. 57
7405964 1980
48
The G syndrome: a case report. 57
474619 1979
49
Phenotypic overlap of the BBB and G syndromes. 57
263434 1978
50
The G and BBB syndromes: case presentations, genetics, and nosology. 57
263433 1978

Variations for Opitz Gbbb Syndrome, Type Ii

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

6 (show all 37)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MID1 MID1, 24-BP DUP Duplication Pathogenic 10806 GRCh37:
GRCh38:
2 MID1 NM_000381.4(MID1):c.1877T>C (p.Leu626Pro) SNV Pathogenic 10808 rs28934611 GRCh37: X:10417535-10417535
GRCh38: X:10449495-10449495
3 MID1 NM_000381.4(MID1):c.343G>T (p.Glu115Ter) SNV Pathogenic 10809 rs104894865 GRCh37: X:10535245-10535245
GRCh38: X:10567205-10567205
4 MID1 MID1, EX1 DUP Duplication Pathogenic 10810 GRCh37:
GRCh38:
5 MID1 NM_000381.4(MID1):c.884T>C (p.Leu295Pro) SNV Pathogenic 10811 rs104894866 GRCh37: X:10450649-10450649
GRCh38: X:10482609-10482609
6 MID1 NM_000381.4(MID1):c.712G>T (p.Glu238Ter) SNV Pathogenic 29975 rs387906719 GRCh37: X:10491176-10491176
GRCh38: X:10523136-10523136
7 MID1 NM_000381.4(MID1):c.1917del (p.Thr640fs) Deletion Pathogenic 617627 rs1569265497 GRCh37: X:10417495-10417495
GRCh38: X:10449455-10449455
8 MID1 NM_033290.4(MID1):c.1311_1313GAT[1] (p.Met438del) Microsatellite Pathogenic 10805 rs1569270035 GRCh37: X:10427817-10427819
GRCh38: X:10459777-10459779
9 MID1 NM_000381.4(MID1):c.1558dup (p.Glu520fs) Duplication Pathogenic 10807 rs1569268013 GRCh37: X:10423006-10423007
GRCh38: X:10454966-10454967
10 SPECC1L-ADORA2A , SPECC1L NM_015330.5(SPECC1L):c.3247G>A (p.Gly1083Ser) SNV Pathogenic 183672 rs786201031 GRCh37: 22:24808658-24808658
GRCh38: 22:24412690-24412690
11 MID1 NM_033290.4(MID1):c.1544_1545AG[1] (p.Thr518_Pro519insTer) Microsatellite Pathogenic 10812 rs1569268029 GRCh37: X:10423018-10423019
GRCh38: X:10454978-10454979
12 MID1 NM_000381.4(MID1):c.1798dup (p.His600fs) Duplication Pathogenic 92876 rs398123342 GRCh37: X:10417613-10417614
GRCh38: X:10449573-10449574
13 MID1 NM_000381.4(MID1):c.757-1G>C SNV Pathogenic 547520 rs1555895725 GRCh37: X:10463732-10463732
GRCh38: X:10495692-10495692
14 MID1 NM_000381.4(MID1):c.1393G>C (p.Ala465Pro) SNV Pathogenic 547523 rs1556004366 GRCh37: X:10427740-10427740
GRCh38: X:10459700-10459700
15 MID1 NM_000381.4(MID1):c.1608_1611dup (p.Ser538Ter) Duplication Pathogenic 547525 rs1556003095 GRCh37: X:10422953-10422954
GRCh38: X:10454913-10454914
16 MID1 NM_000381.4(MID1):c.1663A>G (p.Ile555Val) SNV Pathogenic 547526 rs398123341 GRCh37: X:10417749-10417749
GRCh38: X:10449709-10449709
17 SPECC1L-ADORA2A , SPECC1L NM_015330.5(SPECC1L):c.1189A>C (p.Thr397Pro) SNV Pathogenic 183671 rs786201030 GRCh37: 22:24718137-24718137
GRCh38: 22:24322169-24322169
18 MID1 NM_000381.4(MID1):c.829C>T (p.Arg277Ter) SNV Pathogenic 547521 rs1555895704 GRCh37: X:10463659-10463659
GRCh38: X:10495619-10495619
19 MID1 NM_000381.4(MID1):c.1483C>T (p.Arg495Ter) SNV Pathogenic 523781 rs745554420 GRCh37: X:10423082-10423082
GRCh38: X:10455042-10455042
20 MID1 NM_000381.4(MID1):c.388G>A (p.Ala130Thr) SNV Likely pathogenic 973281 GRCh37: X:10535200-10535200
GRCh38: X:10567160-10567160
21 SPECC1L-ADORA2A , SPECC1L NM_015330.6(SPECC1L):c.2999A>T (p.Asp1000Val) SNV Likely pathogenic 827792 rs1601294872 GRCh37: 22:24765200-24765200
GRCh38: 22:24369232-24369232
22 MID1 NM_000381.4(MID1):c.1725G>A (p.Trp575Ter) SNV Likely pathogenic 547527 rs1556001968 GRCh37: X:10417687-10417687
GRCh38: X:10449647-10449647
23 MID1 NM_000381.4(MID1):c.1881C>A (p.Tyr627Ter) SNV Likely pathogenic 547528 rs1556001856 GRCh37: X:10417531-10417531
GRCh38: X:10449491-10449491
24 MID1 NM_000381.4(MID1):c.1142-1G>T SNV Likely pathogenic 989248 GRCh37: X:10437881-10437881
GRCh38: X:10469841-10469841
25 MID1 NM_000381.4(MID1):c.1454del (p.Pro485fs) Deletion Likely pathogenic 547524 rs1556003200 GRCh37: X:10423111-10423111
GRCh38: X:10455071-10455071
26 MID1 NM_000381.4(MID1):c.1655+1G>A SNV Likely pathogenic 981742 GRCh37: X:10422909-10422909
GRCh38: X:10454869-10454869
27 MID1 NM_000381.4(MID1):c.922del (p.Arg308fs) Deletion Likely pathogenic 547522 rs1555894390 GRCh37: X:10450611-10450611
GRCh38: X:10482571-10482571
28 MID1 NM_000381.4(MID1):c.1361A>G (p.Gln454Arg) SNV Likely pathogenic 522030 rs1556004400 GRCh37: X:10427772-10427772
GRCh38: X:10459732-10459732
29 SPECC1L-ADORA2A , SPECC1L NM_001145468.3(SPECC1L):c.1292T>C (p.Leu431Pro) SNV Likely pathogenic 559898 rs1556226291 GRCh37: 22:24718240-24718240
GRCh38: 22:24322272-24322272
30 MID1 NM_000381.4(MID1):c.2000C>T (p.Pro667Leu) SNV Conflicting interpretations of pathogenicity 92878 rs147106995 GRCh37: X:10417412-10417412
GRCh38: X:10449372-10449372
31 MID1 NM_000381.4(MID1):c.476A>G (p.His159Arg) SNV Uncertain significance 1030754 GRCh37: X:10535112-10535112
GRCh38: X:10567072-10567072
32 SPECC1L-ADORA2A , SPECC1L NM_015330.6(SPECC1L):c.2473del (p.Met825fs) Deletion Uncertain significance 1048607 GRCh37: 22:24730453-24730453
GRCh38: 22:24334485-24334485
33 SPECC1L-ADORA2A , SPECC1L NM_015330.6(SPECC1L):c.1967A>C (p.Glu656Ala) SNV Uncertain significance 982664 GRCh37: 22:24720216-24720216
GRCh38: 22:24324248-24324248
34 SPECC1L-ADORA2A , SPECC1L NM_015330.6(SPECC1L):c.2067_2071delinsTTGAAC (p.Ile690_Phe691delinsTer) Indel Uncertain significance 996970 GRCh37: 22:24720316-24720320
GRCh38: 22:24324348-24324352
35 MID1 NM_000381.4(MID1):c.757-5831A>G SNV Uncertain significance 523056 rs1555896387 GRCh37: X:10469562-10469562
GRCh38: X:10501522-10501522
36 MID1 NM_000381.4(MID1):c.1495G>A (p.Val499Met) SNV Uncertain significance 689640 rs868016081 GRCh37: X:10423070-10423070
GRCh38: X:10455030-10455030
37 MID1 NM_000381.4(MID1):c.107G>A (p.Arg36His) SNV Uncertain significance 873525 GRCh37: X:10535481-10535481
GRCh38: X:10567441-10567441

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

72
# Symbol AA change Variation ID SNP ID
1 SPECC1L p.Thr397Pro VAR_073384 rs786201030
2 SPECC1L p.Gly1083Ser VAR_073385 rs786201031

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 9.33 SPECC1L-ADORA2A SPECC1L MID1
2 gap junction GO:0005921 8.96 SPECC1L-ADORA2A SPECC1L
3 spindle GO:0005819 8.8 SPECC1L-ADORA2A SPECC1L MID1

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

# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 8.96 SPECC1L-ADORA2A SPECC1L
2 cell division GO:0051301 8.62 SPECC1L-ADORA2A SPECC1L

Sources for Opitz Gbbb Syndrome, Type Ii

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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