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 58 13
Opitz-Frias Syndrome 58 76 30 6
Hypertelorism with Esophageal Abnormality and Hypospadias 58 76
Chromosome 22q11.2 Deletion Syndrome, Opitz Phenotype 58 76
Opitz Oculogenitolaryngeal Syndrome, Type Ii 58 76
Telecanthus with Associated Abnormalities 58 76
Opitz Gbbb Syndrome, Autosomal Dominant 58 76
Hypertelorism-Hypospadias Syndrome 58 76
Telecanthus-Hypospadias Syndrome 58 76
Hypospadias-Dysphagia Syndrome 58 76
Opitz-G Syndrome, Type Ii 58 76
Opitz Bbbg Syndrome 58 76
Gbbb Syndrome 58 76
Bbb Syndrome 58 76
G Syndrome 58 76
Gbbb2 58 76
Ogs2 58 76
Autosomal Dominant Opitz G/bbb Syndrome 60
Autosomal Dominant Opitz Bbb/g Syndrome 60
Autosomal Dominant Opitz Syndrome 60
Opitz-G Syndrome, Type Ii; Ogs2 58
Opitz Gbbb Syndrome, X-Linked 74
Opitz-G Syndrome, Type 2 74
Opitz Gbbb Syndrome 2 76
Digeorge Syndrome 74
Ados 60

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
opitz gbbb syndrome, type ii:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Opitz Gbbb Syndrome, Type Ii

OMIM : 58 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). The drugs Prednisone and Docetaxel have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and eye, and related phenotypes are craniosynostosis and hypertelorism

UniProtKB/Swiss-Prot : 76 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 81)
# Related Disease Score Top Affiliating Genes
1 opitz-gbbb syndrome 32.1 MID1 SPECC1L
2 hypertelorism 29.8 MID1 SPECC1L
3 hypospadias 29.5 MID1 SPECC1L
4 x-linked opitz g/bbb syndrome 12.3
5 opitz gbbb syndrome, type i 11.7
6 adenylosuccinase deficiency 11.6
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 velocardiofacial syndrome 10.1
18 autism 10.1
19 patent ductus arteriosus 1 10.1
20 autism spectrum disorder 10.1
21 varicocele 10.1
22 influenza 10.1
23 heart disease 10.0
24 acute pancreatitis 10.0
25 pancreatitis 10.0
26 diaphragmatic hernia, congenital 9.9
27 wolf-hirschhorn syndrome 9.9
28 exstrophy of bladder 9.9
29 chylothorax, congenital 9.9
30 polyhydramnios 9.9
31 chromosome 4p deletion 9.9
32 alzheimer disease 9.8
33 amyotrophic lateral sclerosis 1 9.8
34 ankyloglossia 9.8
35 arteries, anomalies of 9.8
36 breast cancer 9.8
37 thrombophilia due to thrombin defect 9.8
38 asthma 9.8
39 ventricular fibrillation, paroxysmal familial, 1 9.8
40 orthostatic intolerance 9.8
41 pulmonary disease, chronic obstructive 9.8
42 ovarian hyperstimulation syndrome 9.8
43 malaria 9.8
44 craniosynostosis 9.8
45 crohn's disease 9.8
46 hydrocephalus 9.8
47 liver cirrhosis 9.8
48 sinusitis 9.8
49 zollinger-ellison syndrome 9.8
50 thrombosis 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

Human phenotypes related to Opitz Gbbb Syndrome, Type Ii:

33 (show top 50) (show all 55)
# Description HPO Frequency HPO Source Accession
1 craniosynostosis 33 occasional (7.5%) HP:0001363
2 hypertelorism 33 HP:0000316
3 agenesis of corpus callosum 33 HP:0001274
4 frontal bossing 33 HP:0002007
5 high palate 33 HP:0000218
6 intellectual disability 33 HP:0001249
7 muscular hypotonia 33 HP:0001252
8 dysphagia 33 HP:0002015
9 inguinal hernia 33 HP:0000023
10 global developmental delay 33 HP:0001263
11 depressed nasal bridge 33 HP:0005280
12 wide nasal bridge 33 HP:0000431
13 umbilical hernia 33 HP:0001537
14 smooth philtrum 33 HP:0000319
15 prominent forehead 33 HP:0011220
16 cleft palate 33 HP:0000175
17 micrognathia 33 HP:0000347
18 pulmonary arterial hypertension 33 HP:0002092
19 strabismus 33 HP:0000486
20 patent ductus arteriosus 33 HP:0001643
21 epicanthus 33 HP:0000286
22 cryptorchidism 33 HP:0000028
23 atrial septal defect 33 HP:0001631
24 coarctation of aorta 33 HP:0001680
25 ventriculomegaly 33 HP:0002119
26 cerebral cortical atrophy 33 HP:0002120
27 telecanthus 33 HP:0000506
28 hypospadias 33 HP:0000047
29 abnormality of the kidney 33 HP:0000077
30 downslanted palpebral fissures 33 HP:0000494
31 conductive hearing impairment 33 HP:0000405
32 anal atresia 33 HP:0002023
33 ventricular septal defect 33 HP:0001629
34 thin upper lip vermilion 33 HP:0000219
35 tracheoesophageal fistula 33 HP:0002575
36 bifid scrotum 33 HP:0000048
37 cleft upper lip 33 HP:0000204
38 abnormality of the ureter 33 HP:0000069
39 hiatus hernia 33 HP:0002036
40 diastasis recti 33 HP:0001540
41 bifid uvula 33 HP:0000193
42 pulmonary hypoplasia 33 HP:0002089
43 generalized hypotonia 33 HP:0001290
44 anal stenosis 33 HP:0002025
45 weak cry 33 HP:0001612
46 cerebellar vermis hypoplasia 33 HP:0001320
47 posteriorly rotated ears 33 HP:0000358
48 absent gallbladder 33 HP:0011467
49 cranial asymmetry 33 HP:0000267
50 aplasia/hypoplasia of the cerebellar vermis 33 HP:0006817

Symptoms via clinical synopsis from OMIM:

58
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

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 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
2
Docetaxel Approved, Investigational Phase 3 114977-28-5 148124
3 glucocorticoids Phase 3
4 Hormones Phase 3
5 Antimitotic Agents Phase 3
6 Hormone Antagonists Phase 3
7 Antineoplastic Agents, Hormonal Phase 3
8 Anti-Inflammatory Agents Phase 3
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
10
Simvastatin Approved Phase 2,Not Applicable 79902-63-9 54454
11
tannic acid Approved Phase 1, Phase 2 1401-55-4
12
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
13
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
14 Anticholesteremic Agents Phase 2,Not Applicable
15 Lipid Regulating Agents Phase 2,Not Applicable
16 Antimetabolites Phase 2,Not Applicable
17 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2,Not Applicable
18 Hypolipidemic Agents Phase 2,Not Applicable
19 Cholic Acids Phase 1, Phase 2
20 Gastrointestinal Agents Phase 1, Phase 2
21 Phytosterol Phase 1, Phase 2,Not Applicable
22 Antioxidants Phase 2
23 Anesthetics Phase 2
24 Protective Agents Phase 2
25 Dihydromevinolin Phase 2
26 L 647318 Phase 2
27 Pharmaceutical Solutions Phase 2

Interventional clinical trials:

(show all 18)
# 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 Smith-Lemli-Opitz Syndrome and Cholic Acid Not yet recruiting NCT03720990 Phase 1, Phase 2 Cholic Acid
4 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
5 Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
6 Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
7 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
8 Novel Treatment for Syndromic Ichthyoses Withdrawn NCT01110642 Phase 2 Lovastatin
9 Cholesterol in ASD: Characterization and Treatment Completed NCT00965068 Phase 1, Phase 2
10 SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Unknown status NCT01434745 Not Applicable Simvastatin
11 Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome Terminated NCT01356420 Not Applicable
12 A Long-Term Study of Cholesterol Supplements for Smith-Lemli-Opitz Syndrome Withdrawn NCT01413425
13 Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
14 Prenatal Screening For Smith-Lemli-Opitz Syndrome Completed NCT00070850
15 Bohring-Opitz Syndrome and ASXL Registry Recruiting NCT03303716
16 Study of Smith-Lemli-Opitz Syndrome Recruiting NCT00001721
17 Study of Inborn Errors of Cholesterol Synthesis and Related Disorders Recruiting NCT00046202
18 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

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 30 MID1

Anatomical Context for Opitz Gbbb Syndrome, Type Ii

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

42
Heart, Kidney, Eye, Prostate, Skin, Liver, T Cells

Publications for Opitz Gbbb Syndrome, Type Ii

Articles related to Opitz Gbbb Syndrome, Type Ii:

# Title Authors Year
1
Hypospadias associated with hypertelorism, the mildest phenotype of Opitz syndrome. ( 21326312 )
2011
2
MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified. ( 17221865 )
2007
3
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. ( 15558842 )
2005
4
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome. ( 12545276 )
2003
5
New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome. ( 11030761 )
2000
6
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. ( 9354791 )
1997
7
Congenital alacrima in a patient with G (Opitz Frias) syndrome. ( 8834259 )
1996
8
The G syndrome/Opitz oculo-genital-laryngeal syndrome/Opitz BBB/G syndrome/Opitz-Frias syndrome. ( 7745346 )
1995
9
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:

76
# 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 58)
# Gene Variation Type Significance SNP ID Assembly Location
1 MID1 NM_033290.3(MID1): c.1314_1316del (p.Met438del) deletion Pathogenic GRCh38 Chromosome X, 10459777: 10459779
2 MID1 NM_033290.3(MID1): c.1314_1316del (p.Met438del) deletion Pathogenic GRCh37 Chromosome X, 10427817: 10427819
3 MID1 MID1, 24-BP DUP duplication Pathogenic
4 MID1 NM_033290.3(MID1): c.1558dup (p.Glu520Glyfs) duplication Pathogenic GRCh38 Chromosome X, 10454967: 10454967
5 MID1 NM_033290.3(MID1): c.1558dup (p.Glu520Glyfs) duplication Pathogenic GRCh37 Chromosome X, 10423007: 10423007
6 MID1 NM_033290.3(MID1): c.1877T> C (p.Leu626Pro) single nucleotide variant Pathogenic rs28934611 GRCh37 Chromosome X, 10417535: 10417535
7 MID1 NM_033290.3(MID1): c.1877T> C (p.Leu626Pro) single nucleotide variant Pathogenic rs28934611 GRCh38 Chromosome X, 10449495: 10449495
8 MID1 NM_033290.3(MID1): c.343G> T (p.Glu115Ter) single nucleotide variant Pathogenic rs104894865 GRCh37 Chromosome X, 10535245: 10535245
9 MID1 NM_033290.3(MID1): c.343G> T (p.Glu115Ter) single nucleotide variant Pathogenic rs104894865 GRCh38 Chromosome X, 10567205: 10567205
10 MID1 MID1, EX1 DUP duplication Pathogenic
11 MID1 NM_033290.3(MID1): c.884T> C (p.Leu295Pro) single nucleotide variant Pathogenic rs104894866 GRCh37 Chromosome X, 10450649: 10450649
12 MID1 NM_033290.3(MID1): c.884T> C (p.Leu295Pro) single nucleotide variant Pathogenic rs104894866 GRCh38 Chromosome X, 10482609: 10482609
13 MID1 NM_033290.3(MID1): c.1546_1547del (p.Pro519Terfs) deletion Pathogenic GRCh38 Chromosome X, 10454978: 10454979
14 MID1 NM_033290.3(MID1): c.1546_1547del (p.Pro519Terfs) deletion Pathogenic GRCh37 Chromosome X, 10423018: 10423019
15 MID1 NM_033290.3(MID1): c.712G> T (p.Glu238Ter) single nucleotide variant Pathogenic rs387906719 GRCh37 Chromosome X, 10491176: 10491176
16 MID1 NM_033290.3(MID1): c.712G> T (p.Glu238Ter) single nucleotide variant Pathogenic rs387906719 GRCh38 Chromosome X, 10523136: 10523136
17 MID1 NM_000381.3(MID1): c.1798dupC (p.His600Profs) duplication Pathogenic rs398123342 GRCh37 Chromosome X, 10417614: 10417614
18 MID1 NM_000381.3(MID1): c.1798dupC (p.His600Profs) duplication Pathogenic rs398123342 GRCh38 Chromosome X, 10449574: 10449574
19 MID1 NM_000381.3(MID1): c.2000C> T (p.Pro667Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs147106995 GRCh37 Chromosome X, 10417412: 10417412
20 MID1 NM_000381.3(MID1): c.2000C> T (p.Pro667Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs147106995 GRCh38 Chromosome X, 10449372: 10449372
21 MID1 NM_033290.3(MID1): c.783delA (p.Lys261Asnfs) deletion Pathogenic rs398123343 GRCh37 Chromosome X, 10463705: 10463705
22 MID1 NM_033290.3(MID1): c.783delA (p.Lys261Asnfs) deletion Pathogenic rs398123343 GRCh38 Chromosome X, 10495665: 10495665
23 MID1 NM_000381.3(MID1): c.1302_1305dupTGAT (p.Ser436Terfs) duplication Pathogenic rs786200982 GRCh37 Chromosome X, 10427828: 10427831
24 MID1 NM_000381.3(MID1): c.1302_1305dupTGAT (p.Ser436Terfs) duplication Pathogenic rs786200982 GRCh38 Chromosome X, 10459788: 10459791
25 SPECC1L NM_015330.4(SPECC1L): c.1189A> C (p.Thr397Pro) single nucleotide variant Pathogenic rs786201030 GRCh38 Chromosome 22, 24322169: 24322169
26 SPECC1L NM_015330.4(SPECC1L): c.1189A> C (p.Thr397Pro) single nucleotide variant Pathogenic rs786201030 GRCh37 Chromosome 22, 24718137: 24718137
27 SPECC1L NM_015330.4(SPECC1L): c.3247G> A (p.Gly1083Ser) single nucleotide variant Pathogenic rs786201031 GRCh38 Chromosome 22, 24412690: 24412690
28 SPECC1L NM_015330.4(SPECC1L): c.3247G> A (p.Gly1083Ser) single nucleotide variant Pathogenic rs786201031 GRCh37 Chromosome 22, 24808658: 24808658
29 MID1 NM_033290.3(MID1): c.1447_1447+1insAACA insertion Pathogenic rs797044786 GRCh37 Chromosome X, 10427685: 10427686
30 MID1 NM_033290.3(MID1): c.1447_1447+1insAACA insertion Pathogenic rs797044786 GRCh38 Chromosome X, 10459645: 10459646
31 MID1 NM_000381.3(MID1): c.1361A> G (p.Gln454Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs1556004400 GRCh37 Chromosome X, 10427772: 10427772
32 MID1 NM_000381.3(MID1): c.1361A> G (p.Gln454Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs1556004400 GRCh38 Chromosome X, 10459732: 10459732
33 MID1 NM_001193278.1(MID1): c.794A> G (p.Gln265Arg) single nucleotide variant Uncertain significance rs1555896387 GRCh38 Chromosome X, 10501522: 10501522
34 MID1 NM_001193278.1(MID1): c.794A> G (p.Gln265Arg) single nucleotide variant Uncertain significance rs1555896387 GRCh37 Chromosome X, 10469562: 10469562
35 MID1 NM_000381.3(MID1): c.1483C> T (p.Arg495Ter) single nucleotide variant Pathogenic rs745554420 GRCh37 Chromosome X, 10423082: 10423082
36 MID1 NM_000381.3(MID1): c.1483C> T (p.Arg495Ter) single nucleotide variant Pathogenic rs745554420 GRCh38 Chromosome X, 10455042: 10455042
37 MID1 NM_000381.3(MID1): c.1881C> A (p.Tyr627Ter) single nucleotide variant Likely pathogenic rs1556001856 GRCh37 Chromosome X, 10417531: 10417531
38 MID1 NM_000381.3(MID1): c.1881C> A (p.Tyr627Ter) single nucleotide variant Likely pathogenic rs1556001856 GRCh38 Chromosome X, 10449491: 10449491
39 MID1 NM_000381.3(MID1): c.1725G> A (p.Trp575Ter) single nucleotide variant Likely pathogenic rs1556001968 GRCh38 Chromosome X, 10449647: 10449647
40 MID1 NM_000381.3(MID1): c.1725G> A (p.Trp575Ter) single nucleotide variant Likely pathogenic rs1556001968 GRCh37 Chromosome X, 10417687: 10417687
41 MID1 NM_000381.3(MID1): c.1663A> G (p.Ile555Val) single nucleotide variant Pathogenic rs398123341 GRCh37 Chromosome X, 10417749: 10417749
42 MID1 NM_000381.3(MID1): c.1663A> G (p.Ile555Val) single nucleotide variant Pathogenic rs398123341 GRCh38 Chromosome X, 10449709: 10449709
43 MID1 NM_033290.3(MID1): c.1608_1611dup (p.Ser538Terfs) duplication Pathogenic rs1556003095 GRCh38 Chromosome X, 10454914: 10454917
44 MID1 NM_033290.3(MID1): c.1608_1611dup (p.Ser538Terfs) duplication Pathogenic rs1556003095 GRCh37 Chromosome X, 10422954: 10422957
45 MID1 NM_000381.3(MID1): c.1454delC (p.Pro485Hisfs) deletion Likely pathogenic rs1556003200 GRCh37 Chromosome X, 10423111: 10423111
46 MID1 NM_000381.3(MID1): c.1454delC (p.Pro485Hisfs) deletion Likely pathogenic rs1556003200 GRCh38 Chromosome X, 10455071: 10455071
47 MID1 NM_000381.3(MID1): c.1393G> C (p.Ala465Pro) single nucleotide variant Pathogenic rs1556004366 GRCh37 Chromosome X, 10427740: 10427740
48 MID1 NM_000381.3(MID1): c.1393G> C (p.Ala465Pro) single nucleotide variant Pathogenic rs1556004366 GRCh38 Chromosome X, 10459700: 10459700
49 MID1 NM_000381.3(MID1): c.922delC (p.Arg308Glyfs) deletion Likely pathogenic rs1555894390 GRCh37 Chromosome X, 10450611: 10450611
50 MID1 NM_000381.3(MID1): c.922delC (p.Arg308Glyfs) deletion Likely pathogenic rs1555894390 GRCh38 Chromosome X, 10482571: 10482571

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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37 IUPHAR
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39 LifeMap
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45 MeSH
46 MESH via Orphanet
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50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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