MCID: OPT048
MIFTS: 49

Opitz-Gbbb Syndrome

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

Aliases & Classifications for Opitz-Gbbb Syndrome

MalaCards integrated aliases for Opitz-Gbbb Syndrome:

Name: Opitz-Gbbb Syndrome 12 36 15
Opitz G/bbb Syndrome 12 20 43 58
Opitz-Frias Syndrome 20 43 58
Hypospadias-Dysphagia Syndrome 43 58
Opitz-G Syndrome, Type 2 20 70
Opitz Bbb/g Syndrome 43 58
Opitz Bbbg Syndrome 20 58
Hypertelorism with Esophageal Abnormalities and Hypospadias 43
Hypertelorism-Oesophageal Abnormality-Hypospadias Syndrome 58
Hypertelorism with Esophageal Abnormality and Hypospadias 20
Telecanthus with Associated Abnormalities 20
Hypertelorism-Hypospadias Syndrome 58
Hypertelorism Hypospadias Syndrome 20
Hypertelorism-Hypospadias Sydrome 43
Hypospadias-Dysphagia, Syndrome 20
Opitz Gbbb Syndrome, X-Linked 70
Opitz Gbbb Syndrome 58
Opitz Bbb Syndrome 43
Opitz G Syndrome 43
Opitz Syndrome 43
Gbbb Syndrome 20
Bbb Syndrome 20
G Syndrome 20

Characteristics:

Orphanet epidemiological data:

58
opitz gbbb syndrome
Inheritance: Autosomal dominant,X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050780
KEGG 36 H00583
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 71 C1801950 C2936904
Orphanet 58 ORPHA2745
UMLS 70 C1801950 C2936904

Summaries for Opitz-Gbbb Syndrome

MedlinePlus Genetics : 43 Opitz G/BBB syndrome is a genetic condition that causes several abnormalities along the midline of the body. "G/BBB" represents the first letters of the last names of the families first diagnosed with this disorder and "Opitz" is the last name of the doctor who first described the signs and symptoms. There are two forms of Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome and autosomal dominant Opitz G/BBB syndrome. The two forms are distinguished by their genetic causes and patterns of inheritance. The signs and symptoms of the two forms are generally the same.Nearly everyone with Opitz G/BBB syndrome has wide-spaced eyes (ocular hypertelorism). Affected individuals commonly have defects of the voice box (larynx), windpipe (trachea), or esophagus. These throat abnormalities can cause difficulty swallowing or breathing, in some cases resulting in recurrent pneumonia or life-threatening breathing problems. A common defect is a gap between the trachea and esophagus (laryngeal cleft) that allows food or fluids to enter the airway. The cleft can vary in size, and infants may struggle to breathe when feeding. Most males with Opitz G/BBB syndrome have genital abnormalities such as the urethra opening on the underside of the penis (hypospadias), undescended testes (cryptorchidism), an underdeveloped scrotum, or a scrotum divided into two lobes (bifid scrotum). These genital abnormalities can lead to problems in the urinary tract.Mild intellectual disability and developmental delay occur in about 50 percent of people with Opitz G/BBB syndrome. Affected individuals have delayed motor skills, such as walking, speech delay, and learning difficulties. Some people with Opitz G/BBB syndrome have features of autistic spectrum disorders, which are characterized by impaired communication and socialization skills. About half of affected individuals also have an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate). Some have cleft palate without cleft lip. Less common features of Opitz G/BBB syndrome, affecting less than half of people with this disorder, include minor heart defects, an obstruction of the anal opening (imperforate anus), and brain defects such as a small or absent connection between the left and right halves of the brain (corpus callosum). Distinct facial features that may be seen in this disorder include a prominent forehead, widow's peak hairline, flat nasal bridge, thin upper lip, and low-set ears. These features vary among affected individuals, even within the same family.

MalaCards based summary : Opitz-Gbbb Syndrome, also known as opitz g/bbb syndrome, is related to opitz gbbb syndrome, type ii and hypertelorism. An important gene associated with Opitz-Gbbb Syndrome is MID1 (Midline 1), and among its related pathways/superpathways is Ubiquitin mediated proteolysis. The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include trachea, eye and testes, and related phenotypes are hypertelorism and wide nasal bridge

Disease Ontology : 12 A syndrome that is characterized by hypertelorism, hypospadias, and additional midline defects.

GARD : 20 Opitz G/BBB syndrome is an inherited condition that affects several structures along the midline of the body. The most common features are wide-spaced eyes and defects of the larynx, trachea, and/or esophagus causing breathing problems and difficulty swallowing. Affected males usually have a urethra opening on the underside of the penis ( hypospadias ). Other features can include mild intellectual disability, cleft lip and/or a cleft palate, heart defects, an obstruction of the anal opening ( imperforate anus ), agenesis of the corpus callosum, and facial abnormalities. These features may vary, even among members of the same family. There are two forms of Opitz G/BBB syndrome, which are distinguished by their genetic causes and patterns of inheritance. The X-linked form is caused by mutations in the MID1 gene. Autosomal dominant Opitz G/BBB syndrome is caused by a deletion of 22q11.2, and is often referred to as 22q11.2 deletion syndrome. Treatment depends on the individual's specific needs.

KEGG : 36 Opitz GBBB syndrome is a pleiotropic genetic disorder characterized by hypertelorism, hypospadias, and additional midline defects. This syndrome was originally described as two distinct entities, the BBB syndrome with cleft lip, palate and mental retardation, and the G-syndrome characterized by gastrointestinal anomalies. Subsequently, both syndromes were merged and reclassified as Opitz GBBB syndrome. There are two forms of Opitz GBBB syndrome, which are distinguished by their genetic causes and patterns of inheritance. The X-linked form is caused by a mutation in the gene MID1 that encodes an ubiquitin ligase that targets phosphatase 2A for degradation. Autosomal dominant form results from a deletion at chromosome 22q11.2.

Wikipedia : 73 Opitz G/BBB syndrome, also known as Opitz syndrome, G syndrome or BBB syndrome, is a rare genetic... more...

Related Diseases for Opitz-Gbbb Syndrome

Diseases in the Opitz-Gbbb Syndrome family:

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

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

(show top 50) (show all 250)
# Related Disease Score Top Affiliating Genes
1 opitz gbbb syndrome, type ii 33.4 SPECC1L-ADORA2A SPECC1L MID1
2 hypertelorism 30.6 SPECC1L-ADORA2A SPECC1L MID1
3 anus, imperforate 30.2 MID1 CHD7
4 velocardiofacial syndrome 30.1 SNAP29 PRODH GBX2 CHD7
5 opitz gbbb syndrome, type i 12.0
6 smith-lemli-opitz syndrome 11.9
7 bohring-opitz syndrome 11.9
8 encephalopathy, recurrent, of childhood 11.2
9 waisman syndrome 11.2
10 neurofaciodigitorenal syndrome 11.1
11 hypospadias 1, x-linked 11.1
12 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome 11.0
13 van buchem disease 11.0
14 lathosterolosis 11.0
15 c syndrome 11.0
16 amenorrhea-galactorrhea syndrome 11.0
17 hyperprolactinemia 11.0
18 ahumada del castillo syndrome 11.0
19 greenberg dysplasia 11.0
20 hypospadias 2, x-linked 11.0
21 perching syndrome 11.0
22 autosomal recessive disease 10.6
23 chromosome 2q35 duplication syndrome 10.6
24 microcephaly 10.5
25 polydactyly 10.4
26 retinal degeneration 10.4
27 oculomaxillofacial dysostosis 10.3 SPECC1L-ADORA2A SPECC1L
28 holoprosencephaly 10.3
29 facial clefting, oblique, 1 10.3 SPECC1L-ADORA2A SPECC1L
30 cataract 10.3
31 hypertelorism, teebi type 10.3 SPECC1L-ADORA2A SPECC1L
32 hypospadias 10.3
33 x-linked opitz g/bbb syndrome 10.3
34 hirschsprung disease 1 10.3
35 ptosis 10.3
36 dysphagia 10.3
37 autosomal recessive limb-girdle muscular dystrophy type 2h 10.2 TRAT1 BBOX1
38 t-cell immunodeficiency with thymic aplasia 10.2 SNAP29 PRODH CHD7
39 autism spectrum disorder 10.2
40 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome 10.2 SNAP29 PRODH
41 pyloric stenosis 10.2
42 van den ende-gupta syndrome 10.2 SNAP29 PRODH
43 mulibrey nanism 10.2 TRIM17 TRAT1 MID1 BBOX1
44 ring chromosome 22 10.2
45 ring chromosome 10.2
46 oligohydramnios 10.2
47 alacrima, achalasia, and mental retardation syndrome 10.2
48 congenital alacrima 10.1
49 digeorge syndrome 10.1
50 abnormal hair, joint laxity, and developmental delay 10.1

Graphical network of the top 20 diseases related to Opitz-Gbbb Syndrome:



Diseases related to Opitz-Gbbb Syndrome

Symptoms & Phenotypes for Opitz-Gbbb Syndrome

Human phenotypes related to Opitz-Gbbb Syndrome:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
3 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
4 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
5 hypospadias 58 31 hallmark (90%) Very frequent (99-80%) HP:0000047
6 telecanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000506
7 abnormality of the pharynx 58 31 hallmark (90%) Very frequent (99-80%) HP:0000600
8 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
9 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
10 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
11 prominent forehead 58 31 frequent (33%) Frequent (79-30%) HP:0011220
12 abnormality of the voice 58 31 frequent (33%) Frequent (79-30%) HP:0001608
13 pectus carinatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000768
14 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
15 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
16 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
17 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
18 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
19 increased number of teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0011069
20 hypodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000668
21 large fontanelles 58 31 occasional (7.5%) Occasional (29-5%) HP:0000239
22 prominent metopic ridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005487
23 oral cleft 58 Occasional (29-5%)

GenomeRNAi Phenotypes related to Opitz-Gbbb Syndrome according to GeneCards Suite gene sharing:

26 (show all 23)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.75 FGF17
2 Increased shRNA abundance (Z-score > 2) GR00366-A-103 9.75 MID1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.75 TRIM17
4 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.75 MID1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.75 PRODH
6 Increased shRNA abundance (Z-score > 2) GR00366-A-145 9.75 TRIM17
7 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.75 PRODH
8 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.75 FGF17
9 Increased shRNA abundance (Z-score > 2) GR00366-A-165 9.75 FGF17 TRIM17
10 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.75 TRIM17
11 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.75 FGF17
12 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.75 PRODH
13 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.75 FGF17 PRODH TRIM17
14 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.75 TRIM17
15 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.75 MID1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-33 9.75 PRODH
17 Increased shRNA abundance (Z-score > 2) GR00366-A-58 9.75 MID1 PRODH
18 Increased shRNA abundance (Z-score > 2) GR00366-A-66 9.75 PRODH
19 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.75 PRODH
20 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.75 PRODH
21 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.75 MID1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-92 9.75 FGF17
23 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.75 PRODH

Drugs & Therapeutics for Opitz-Gbbb Syndrome

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 1, Phase 2 1401-55-4
2
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
3 Protective Agents Phase 2
4 Antioxidants Phase 2
5 Anesthetics Phase 2
6 Cholic Acids Phase 1, Phase 2
7 Gastrointestinal Agents Phase 1, Phase 2
8
Simvastatin Approved 79902-63-9 54454
9 Phytosterol

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 The Effects of Dietary Cholesterol in the Smith-Lemli-Opitz Syndrome Unknown status NCT00004347 Phase 2
2 Investigation of Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
3 Short-Term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
4 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
5 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
6 Smith-Lemli-Opitz Syndrome: A Pilot Study of Cholic Acid Supplementation Not yet recruiting NCT03720990 Phase 1, Phase 2 Cholic Acid
7 Open-label, Pilot Study to Assess Cholesterol-Lovastatin Solution in the Treatment of Syndromic Ichthyoses Withdrawn NCT01110642 Phase 2 Lovastatin
8 Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
9 Clinical and Basic Investigations Into Smith-Lemli-Opitz Syndrome Completed NCT00001721
10 The Feasibility of Screening for Smith-Lemli-Opitz Syndrome Completed NCT00070850
11 Clinical Registry for ASXL-Related Disorders and Disorders of Chromatin Remodeling Recruiting NCT03303716
12 Smith-Lemli Opitz Syndrome: A Clinical Investigation of the Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Terminated NCT01434745 Simvastatin
13 Smith-Lemli-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation Terminated NCT01356420
14 Smith-Lemli-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation Withdrawn NCT01413425

Search NIH Clinical Center for Opitz-Gbbb Syndrome

Genetic Tests for Opitz-Gbbb Syndrome

Anatomical Context for Opitz-Gbbb Syndrome

MalaCards organs/tissues related to Opitz-Gbbb Syndrome:

40
Trachea, Eye, Testes, Brain, T Cells, Pituitary

Publications for Opitz-Gbbb Syndrome

Articles related to Opitz-Gbbb Syndrome:

(show top 50) (show all 85)
# 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. 61 6
25412741 2015
2
Hypospadias associated with hypertelorism, the mildest phenotype of Opitz syndrome. 6 61
21326312 2011
3
MID1 mutations in patients with X-linked Opitz G/BBB syndrome. 61 6
18360914 2008
4
MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified. 6 61
17221865 2007
5
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. 6 61
15558842 2005
6
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome. 61 6
12545276 2003
7
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. 61 6
9354791 1997
8
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
9
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
10
Active transport of the ubiquitin ligase MID1 along the microtubules is regulated by protein phosphatase 2A. 6
18949047 2008
11
New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome. 6
11030761 2000
12
G syndrome: an unusual family. 6
3228142 1988
13
Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome. 61
32954677 2020
14
Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype? 61
32926417 2020
15
Genetic tests aid in counseling of fetuses with cerebellar vermis defects. 61
32386258 2020
16
A novel SPECC1L mutation causing Teebi hypertelorism syndrome: Expanding phenotypic and genetic spectrum. 61
31953237 2020
17
A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies. 61
32656166 2020
18
Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes. 61
30472488 2019
19
Craniofacial Morphology in Patients With Opitz G/BBB Syndrome. 61
31216877 2019
20
First trimester ultrasound features of X-linked Opitz syndrome and early molecular diagnosis: case report and review of the literature. 61
31630581 2019
21
Targeted next‑generation sequencing for research and diagnostics in congenital heart disease, and cleft lip and/or palate. 61
30896870 2019
22
Main genetic entities associated with supernumerary teeth. 61
30457727 2018
23
MID1-PP2A complex functions as new insights in human lung adenocarcinoma. 61
29450633 2018
24
Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome. 61
29456483 2017
25
Dental treatment of a patient with Opitz G/BBB syndrome. 61
27642052 2017
26
A surgical approach to the craniofacial defects of Opitz G/BBB syndrome. 61
28458838 2017
27
Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses. 61
27749392 2017
28
aura (mid1ip1l) regulates the cytoskeleton at the zebrafish egg-to-embryo transition. 61
26965374 2016
29
Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome. 61
26111080 2015
30
Successful use of ultrasound-guided caudal catheter in a child with a very low termination of dural sac and Opitz-GBBB syndrome: a case report. 61
26239147 2015
31
R368X mutation in MID1 among recurrent mutations in patients with X-linked Opitz G/BBB syndrome. 61
25304119 2015
32
Midline 1 directs lytic granule exocytosis and cytotoxicity of mouse killer T cells. 61
25043946 2014
33
Prenatal diagnosis of maternally inherited X-linked Opitz G/BBB syndrome by chromosomal microarray in a fetus with complex congenital heart disease. 61
24863803 2014
34
A novel mutation in MID1 in a patient with X-linked Opitz G/BBB syndrome. 61
24374473 2014
35
Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations. 61
23791568 2013
36
Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome. 61
23354372 2013
37
[Repair of a laryngeal fissure in a patient with Opitz G/BBB syndrome]. 61
22749297 2013
38
The Caenorhabditis elegans homolog of the Opitz syndrome gene, madd-2/Mid1, regulates anchor cell invasion during vulval development. 61
23201576 2013
39
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS. 61
23231787 2013
40
A MID1 gene mutation in a patient with Opitz G/BBB syndrome that altered the 3D structure of SPRY domain. 61
22407675 2012
41
VACTERL/VATER Association. 61
21846383 2011
42
Congenital diaphragmatic hernia is a feature of Opitz G/BBB syndrome. 61
20823703 2010
43
A MID1 mutation associated with reduced penetrance of X-linked Opitz G/BBB syndrome. 61
20671548 2010
44
Case of polyhydramnios complicated by Opitz G/BBB syndrome. 61
20666962 2010
45
MID1 and MID2 are required for Xenopus neural tube closure through the regulation of microtubule organization. 61
20534674 2010
46
Lack of Mid1, the mouse ortholog of the Opitz syndrome gene, causes abnormal development of the anterior cerebellar vermis. 61
20181585 2010
47
Associated malformations in patients with esophageal atresia. 61
19410022 2009
48
Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation. 61
18697196 2008
49
Diagnosis of a terminal deletion of 4p with duplication of Xp22.31 in a patient with findings of Opitz G/BBB syndrome and Wolf-Hirschhorn syndrome. 61
18074389 2008
50
A patient with 22q11.2 deletion and Opitz syndrome-like phenotype has the same deletion as velocardiofacial patients. 61
18000907 2007

Variations for Opitz-Gbbb Syndrome

ClinVar genetic disease variations for Opitz-Gbbb Syndrome:

6 (show all 36)
# 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 MID1 NM_000381.4(MID1):c.829C>T (p.Arg277Ter) SNV Pathogenic 547521 rs1555895704 GRCh37: X:10463659-10463659
GRCh38: X:10495619-10495619
18 MID1 NM_000381.4(MID1):c.1483C>T (p.Arg495Ter) SNV Pathogenic 523781 rs745554420 GRCh37: X:10423082-10423082
GRCh38: X:10455042-10455042
19 SPECC1L-ADORA2A , SPECC1L NM_015330.5(SPECC1L):c.1189A>C (p.Thr397Pro) SNV Pathogenic 183671 rs786201030 GRCh37: 22:24718137-24718137
GRCh38: 22:24322169-24322169
20 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
21 MID1 NM_000381.4(MID1):c.388G>A (p.Ala130Thr) SNV Likely pathogenic 973281 GRCh37: X:10535200-10535200
GRCh38: X:10567160-10567160
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.2067_2071delinsTTGAAC (p.Ile690_Phe691delinsTer) Indel Uncertain significance 996970 GRCh37: 22:24720316-24720320
GRCh38: 22:24324348-24324352
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 MID1 NM_000381.4(MID1):c.757-5831A>G SNV Uncertain significance 523056 rs1555896387 GRCh37: X:10469562-10469562
GRCh38: X:10501522-10501522
35 MID1 NM_000381.4(MID1):c.1495G>A (p.Val499Met) SNV Uncertain significance 689640 rs868016081 GRCh37: X:10423070-10423070
GRCh38: X:10455030-10455030
36 MID1 NM_000381.4(MID1):c.107G>A (p.Arg36His) SNV Uncertain significance 873525 GRCh37: X:10535481-10535481
GRCh38: X:10567441-10567441

Expression for Opitz-Gbbb Syndrome

Search GEO for disease gene expression data for Opitz-Gbbb Syndrome.

Pathways for Opitz-Gbbb Syndrome

Pathways related to Opitz-Gbbb Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Ubiquitin mediated proteolysis hsa04120

GO Terms for Opitz-Gbbb Syndrome

Biological processes related to Opitz-Gbbb Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of viral transcription GO:0032897 9.16 TRIM62 MID2
2 protein localization to microtubule GO:0035372 8.96 MID2 MID1
3 carnitine biosynthetic process GO:0045329 8.62 TMLHE BBOX1

Sources for Opitz-Gbbb Syndrome

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
39 LOVD
41 MedGen
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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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