GBBB1
MCID: OPT051
MIFTS: 48

Opitz Gbbb Syndrome, Type I (GBBB1)

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

Aliases & Classifications for Opitz Gbbb Syndrome, Type I

MalaCards integrated aliases for Opitz Gbbb Syndrome, Type I:

Name: Opitz Gbbb Syndrome, Type I 58 13
Opitz Syndrome 58 77 76
Hypertelorism with Esophageal Abnormality and Hypospadias 58 76
Hypertelorism-Hypospadias Syndrome 58 76
Telecanthus-Hypospadias Syndrome 58 76
Opitz Gbbb Syndrome, X-Linked 58 74
Gbbb1 58 76
Bbbg1 58 76
Osx 58 76
Os 58 76
Opitz Bbbg Syndrome, Type I; Bbbg1 58
Opitz-G Syndrome, Type I; Ogs1 58
Opitz Syndrome, X-Linked; Osx 58
X-Linked Opitz G/bbb Syndrome 60
X-Linked Opitz Bbb/g Syndrome 60
Opitz Gbbb Syndrome X-Linked 76
Opitz Bbbg Syndrome, Type I 58
Opitz Bbbg Syndrome Type I 76
Opitz Gbbb Syndrome Type I 76
Opitz Syndrome, X-Linked 58
Opitz-G Syndrome, Type I 58
Opitz-G Syndrome, Type 2 74
X-Linked Opitz Syndrome 60
Opitz-G Syndrome Type I 76
Opitz Syndrome X-Linked 76
Opitz Gbbb Syndrome 1 76
Opitz Syndrome; Os 58
Gggb1 76
Ogs1 58
Xlos 60

Characteristics:

OMIM:

58
Miscellaneous:
genetic heterogeneity (see )

Inheritance:
x-linked recessive


HPO:

33
opitz gbbb syndrome, type i:
Inheritance heterogeneous x-linked recessive inheritance


Classifications:



Summaries for Opitz Gbbb Syndrome, Type I

OMIM : 58 The Opitz GBBB syndrome is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects (So et al., 2005). This disorder was first reported as 2 separate entities, BBB syndrome and G syndrome; subsequent reports of families in which the BBB and G syndromes segregated within a single kindred suggested that they represent a single entity. (300000)

MalaCards based summary : Opitz Gbbb Syndrome, Type I, also known as opitz syndrome, is related to x-linked opitz g/bbb syndrome and smith-lemli-opitz syndrome. An important gene associated with Opitz Gbbb Syndrome, Type I is MID1 (Midline 1). The drugs Prednisone and Docetaxel have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and skin, and related phenotypes are hypertelorism and agenesis of corpus callosum

UniProtKB/Swiss-Prot : 76 Opitz GBBB syndrome 1: 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.

Wikipedia : 77 Trigonocephaly is a congenital condition of premature fusion of the metopic suture (from Greek metopon,... more...

Related Diseases for Opitz Gbbb Syndrome, Type I

Diseases in the Opitz-Gbbb Syndrome family:

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

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

(show top 50) (show all 273)
# Related Disease Score Top Affiliating Genes
1 x-linked opitz g/bbb syndrome 12.8
2 smith-lemli-opitz syndrome 12.7
3 bohring-opitz syndrome 12.6
4 neuhauser eichner opitz syndrome 12.1
5 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome 12.0
6 wiedemann opitz syndrome 12.0
7 opitz gbbb syndrome, type ii 11.7
8 opitz-gbbb syndrome 11.7
9 osteogenic sarcoma 11.4
10 lathosterolosis 11.3
11 short syndrome 11.2
12 cervix disease 11.2
13 hypospadias 1, x-linked 11.2
14 encephalopathy, recurrent, of childhood 11.1
15 neurofaciodigitorenal syndrome 11.1
16 omenn syndrome 11.1
17 baculum, congenital absence of 11.1
18 early infantile epileptic encephalopathy 11.0
19 osteitis fibrosa 11.0
20 adenosarcoma of the uterus 11.0
21 jamaican vomiting sickness 11.0
22 ohtahara syndrome 11.0
23 greenberg dysplasia 11.0
24 hypospadias 2, x-linked 11.0
25 van buchem disease 11.0
26 waisman syndrome 11.0
27 early-onset parkinsonism-intellectual disability syndrome 11.0
28 thyroiditis 10.4
29 lymphomatous thyroiditis 10.4
30 retinal degeneration 10.3
31 telecanthus 10.2
32 hypertelorism 10.2
33 hypospadias 10.2
34 dysphagia 10.2
35 hirschsprung disease 1 10.2
36 osteoporosis 10.1
37 osteoid osteoma 10.1
38 osteoporotic fracture 10.1
39 autism 10.1
40 polydactyly 10.1
41 holoprosencephaly 10.1
42 placenta praevia 10.1
43 sarcoma 10.0
44 pulmonary hypertension 10.0
45 heart disease 10.0
46 malignant hyperthermia 10.0
47 multiple sclerosis 10.0
48 bone mineral density quantitative trait locus 8 10.0
49 bone mineral density quantitative trait locus 15 10.0
50 sclerosing cholangitis, neonatal 9.9

Graphical network of the top 20 diseases related to Opitz Gbbb Syndrome, Type I:



Diseases related to Opitz Gbbb Syndrome, Type I

Symptoms & Phenotypes for Opitz Gbbb Syndrome, Type I

Human phenotypes related to Opitz Gbbb Syndrome, Type I:

33 (show all 24)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 HP:0000316
2 agenesis of corpus callosum 33 HP:0001274
3 frontal bossing 33 HP:0002007
4 high palate 33 HP:0000218
5 dysphagia 33 HP:0002015
6 global developmental delay 33 HP:0001263
7 wide nasal bridge 33 HP:0000431
8 smooth philtrum 33 HP:0000319
9 anteverted nares 33 HP:0000463
10 gastroesophageal reflux 33 HP:0002020
11 prominent forehead 33 HP:0011220
12 cleft palate 33 HP:0000175
13 cryptorchidism 33 HP:0000028
14 telecanthus 33 HP:0000506
15 hypospadias 33 HP:0000047
16 anal atresia 33 HP:0002023
17 thin upper lip vermilion 33 HP:0000219
18 cleft upper lip 33 HP:0000204
19 aspiration 33 HP:0002835
20 abnormality of cardiovascular system morphology 33 HP:0030680
21 abnormal heart morphology 33 HP:0001627
22 widow's peak 33 HP:0000349
23 posterior pharyngeal cleft 33 HP:0006783
24 abnormality of the nasopharynx 33 HP:0001739

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
telecanthus

Abdomen Gastrointestinal:
dysphagia
gastroesophageal reflux
imperforate anus

Head And Neck Face:
prominent forehead
flat philtrum

Genitourinary Internal Genitalia Male:
cryptorchidism

Respiratory Lung:
aspiration

Respiratory Nasopharynx:
posterior pharyngeal cleft

Neurologic Central Nervous System:
agenesis of corpus callosum
developmental delay

Head And Neck Nose:
anteverted nares
broad nasal bridge
grooved nasal tip

Head And Neck Mouth:
cleft palate
cleft lip
high-arched palate
thin upper lip

Genitourinary External Genitalia Male:
hypospadias

Skin Nails Hair Hair:
widow's peak

Cardiovascular Heart:
congenital heart defect

Clinical features from OMIM:

300000

Drugs & Therapeutics for Opitz Gbbb Syndrome, Type I

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

(show all 23)
# 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 Anti-Inflammatory Agents Phase 3
4 Hormones Phase 3
5 Antineoplastic Agents, Hormonal Phase 3
6 Hormone Antagonists Phase 3
7 Antimitotic Agents Phase 3
8 glucocorticoids 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 94-09-7, 1994-09-7 2337
13 Phytosterol Phase 1, Phase 2,Not Applicable
14 Antimetabolites Phase 2,Not Applicable
15 Hypolipidemic Agents Phase 2,Not Applicable
16 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2,Not Applicable
17 Lipid Regulating Agents Phase 2,Not Applicable
18 Anticholesteremic Agents Phase 2,Not Applicable
19 Protective Agents Phase 2
20 Antioxidants Phase 2
21 Anesthetics Phase 2
22 Cholic Acids Phase 1, Phase 2
23 Gastrointestinal Agents Phase 1, 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 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 Cholesterol in ASD: Characterization and Treatment Completed NCT00965068 Phase 1, Phase 2
7 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
8 Smith-Lemli-Opitz Syndrome and Cholic Acid Not yet recruiting NCT03720990 Phase 1, Phase 2 Cholic Acid
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 Prenatal Screening For Smith-Lemli-Opitz Syndrome Completed NCT00070850
14 Bohring-Opitz Syndrome and ASXL Registry Recruiting NCT03303716
15 Study of Smith-Lemli-Opitz Syndrome Recruiting NCT00001721
16 Study of Inborn Errors of Cholesterol Synthesis and Related Disorders Recruiting NCT00046202
17 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
18 A Long-Term Study of Cholesterol Supplements for Smith-Lemli-Opitz Syndrome Withdrawn NCT01413425

Search NIH Clinical Center for Opitz Gbbb Syndrome, Type I

Genetic Tests for Opitz Gbbb Syndrome, Type I

Anatomical Context for Opitz Gbbb Syndrome, Type I

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

42
Heart, Bone, Skin, Brain, Eye, Prostate, Retina

Publications for Opitz Gbbb Syndrome, Type I

Articles related to Opitz Gbbb Syndrome, Type I:

(show top 50) (show all 528)
# Title Authors Year
1
Liver Transplant and Improvements in Cholesterol Biosynthesis Defects: A Case Report of Smith-Lemli-Opitz Syndrome. ( 30674241 )
2019
2
Smith-Lemli-Opitz syndrome: clinical and biochemical correlates. ( 29455191 )
2018
3
Compromised phagosome maturation underlies RPE pathology in cell culture and whole animal models of Smith-Lemli-Opitz Syndrome. ( 29979914 )
2018
4
Lethal persistent pulmonary hypertension of the newborn in Bohring-Opitz syndrome. ( 29681105 )
2018
5
Spontaneously regressing brain lesions in Smith-Lemli-Opitz syndrome. ( 29226552 )
2018
6
Bohring-Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic mother. ( 29681100 )
2018
7
Author Correction: Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome. ( 29511293 )
2018
8
Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome. ( 29352199 )
2018
9
Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome. ( 29300326 )
2018
10
Smith-Lemli-Opitz Syndrome in a newborn infant with developmental abnormalities and low endogenous cholesterol. ( 29355488 )
2018
11
The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome. ( 30147881 )
2018
12
Oxysterols and Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome: Implications for an Improved Therapeutic Intervention. ( 30360379 )
2018
13
Smith-Lemli-Opitz syndrome presenting as acute adrenal crisis in a child: a case report. ( 30092813 )
2018
14
Lipid-derived and other oxidative modifications of retinal proteins in a rat model of Smith-Lemli-Opitz syndrome. ( 30114413 )
2018
15
Normal IQ is possible in Smith-Lemli-Opitz syndrome. ( 28349652 )
2017
16
Structural and functional observations of the P151L MID1 mutation reveal alpha4 plays a significant role in X-linked Opitz Syndrome. ( 28548391 )
2017
17
Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome. ( 28719049 )
2017
18
Oxidative stress, serotonergic changes and decreased ultrasonic vocalizations in a mouse model of Smith-Lemli-Opitz syndrome. ( 28220990 )
2017
19
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome. ( 28229513 )
2017
20
Novel DHCR7 mutation in a case of Smith-Lemli-Opitz syndrome showing 46,XY disorder of sex development. ( 28503313 )
2017
21
Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum. ( 28369852 )
2017
22
Bohring-opitz syndrome - A case of a rare genetic disorder. ( 28889139 )
2017
23
Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates. ( 28166604 )
2017
24
Vitamin D levels in Smith-Lemli-Opitz syndrome. ( 28796426 )
2017
25
Photosensitization of TRPA1 and TRPV1 by 7-dehydrocholesterol: implications for the Smith- Lemli-Opitz syndrome. ( 28891864 )
2017
26
Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46,XX fetus. ( 28805615 )
2017
27
Altered cerebrospinal fluid proteins in Smith-Lemli-Opitz syndrome patients. ( 27148958 )
2016
28
The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome. ( 26969503 )
2016
29
Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update. ( 27053961 )
2016
30
Intracranial undifferentiated malign neuroglial tumor in Smith-Lemli-Opitz syndrome: A theory of a possible predisposing factor for primary brain tumors via a case report. ( 27526097 )
2016
31
Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/I^-catenin defects in neuronal cholesterol synthesis phenotypes. ( 26998835 )
2016
32
Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients. ( 26976653 )
2016
33
A novel de-novo frameshift mutation of the ASXL1 gene in a classic case of Bohring-Opitz syndrome. ( 27043953 )
2016
34
A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome. ( 27513191 )
2016
35
A Pilot Study of the Association of Markers of Cholesterol Synthesis with Disturbed Sleep in Smith-Lemli-Opitz Syndrome. ( 27244299 )
2016
36
7DHC-induced changes of Kv1.3 operation contributes to modified T cell function in Smith-Lemli-Opitz syndrome. ( 27315086 )
2016
37
Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome. ( 26685159 )
2016
38
Smith-Lemli-Opitz Syndrome- a challenging prenatal diagnosis. ( 27306473 )
2016
39
Patient iPSCs: a new discovery tool for Smith-Lemli-Opitz syndrome. ( 27050588 )
2016
40
Mid1/Mid2 expression in craniofacial development and a literature review of X-linked opitz syndrome. ( 26788540 )
2016
41
Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance. ( 25921057 )
2015
42
Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome. ( 25734025 )
2015
43
Trends in prenatal diagnosis of non-specific multiple malformations disorders with reference to the own experience and research study on Smith-Lemli-Opitz syndrome. ( 26492708 )
2015
44
Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome. ( 26364555 )
2015
45
Delivery of the 7-dehydrocholesterol reductase gene to the central nervous system using adeno-associated virus vector in a mouse model of Smith-Lemli-Opitz Syndrome. ( 26347274 )
2015
46
Altered lipid subfraction profile and impaired antioxidant defense of high-density lipoprotein in Smith-Lemli-Opitz syndrome. ( 25668223 )
2015
47
Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome. ( 24500076 )
2014
48
Brothers with Smith-Lemli-Opitz Syndrome. ( 24954735 )
2014
49
A highly sensitive method for analysis of 7-dehydrocholesterol for the study of Smith-Lemli-Opitz syndrome. ( 24259532 )
2014
50
Smith-lemli-opitz syndrome: a case with annular pancreas. ( 25165593 )
2014

Variations for Opitz Gbbb Syndrome, Type I

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

76
# Symbol AA change Variation ID SNP ID
1 MID1 p.Cys266Arg VAR_013758
2 MID1 p.Ile536Thr VAR_013761
3 MID1 p.Leu626Pro VAR_013762 rs28934611
4 MID1 p.Leu295Pro VAR_025495 rs104894866

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

6 (show top 50) (show all 52)
# Gene Variation Type Significance SNP ID Assembly Location
1 MID1 NM_000381.3(MID1): c.1302_1305dupTGAT (p.Ser436Terfs) duplication Pathogenic rs786200982 GRCh37 Chromosome X, 10427828: 10427831
2 MID1 NM_000381.3(MID1): c.1302_1305dupTGAT (p.Ser436Terfs) duplication Pathogenic rs786200982 GRCh38 Chromosome X, 10459788: 10459791
3 MID1 NM_033290.3(MID1): c.1447_1447+1insAACA insertion Pathogenic rs797044786 GRCh37 Chromosome X, 10427685: 10427686
4 MID1 NM_033290.3(MID1): c.1447_1447+1insAACA insertion Pathogenic rs797044786 GRCh38 Chromosome X, 10459645: 10459646
5 MID1 NM_033290.3(MID1): c.1314_1316del (p.Met438del) deletion Pathogenic GRCh38 Chromosome X, 10459777: 10459779
6 MID1 NM_033290.3(MID1): c.1314_1316del (p.Met438del) deletion Pathogenic GRCh37 Chromosome X, 10427817: 10427819
7 MID1 MID1, 24-BP DUP duplication Pathogenic
8 MID1 NM_033290.3(MID1): c.1558dup (p.Glu520Glyfs) duplication Pathogenic GRCh38 Chromosome X, 10454967: 10454967
9 MID1 NM_033290.3(MID1): c.1558dup (p.Glu520Glyfs) duplication Pathogenic GRCh37 Chromosome X, 10423007: 10423007
10 MID1 NM_033290.3(MID1): c.1877T> C (p.Leu626Pro) single nucleotide variant Pathogenic rs28934611 GRCh37 Chromosome X, 10417535: 10417535
11 MID1 NM_033290.3(MID1): c.1877T> C (p.Leu626Pro) single nucleotide variant Pathogenic rs28934611 GRCh38 Chromosome X, 10449495: 10449495
12 MID1 NM_033290.3(MID1): c.343G> T (p.Glu115Ter) single nucleotide variant Pathogenic rs104894865 GRCh37 Chromosome X, 10535245: 10535245
13 MID1 NM_033290.3(MID1): c.343G> T (p.Glu115Ter) single nucleotide variant Pathogenic rs104894865 GRCh38 Chromosome X, 10567205: 10567205
14 MID1 MID1, EX1 DUP duplication Pathogenic
15 MID1 NM_033290.3(MID1): c.884T> C (p.Leu295Pro) single nucleotide variant Pathogenic rs104894866 GRCh37 Chromosome X, 10450649: 10450649
16 MID1 NM_033290.3(MID1): c.884T> C (p.Leu295Pro) single nucleotide variant Pathogenic rs104894866 GRCh38 Chromosome X, 10482609: 10482609
17 MID1 NM_033290.3(MID1): c.1546_1547del (p.Pro519Terfs) deletion Pathogenic GRCh38 Chromosome X, 10454978: 10454979
18 MID1 NM_033290.3(MID1): c.1546_1547del (p.Pro519Terfs) deletion Pathogenic GRCh37 Chromosome X, 10423018: 10423019
19 MID1 NM_033290.3(MID1): c.712G> T (p.Glu238Ter) single nucleotide variant Pathogenic rs387906719 GRCh37 Chromosome X, 10491176: 10491176
20 MID1 NM_033290.3(MID1): c.712G> T (p.Glu238Ter) single nucleotide variant Pathogenic rs387906719 GRCh38 Chromosome X, 10523136: 10523136
21 MID1 NM_000381.3(MID1): c.1798dupC (p.His600Profs) duplication Pathogenic rs398123342 GRCh37 Chromosome X, 10417614: 10417614
22 MID1 NM_000381.3(MID1): c.1798dupC (p.His600Profs) duplication Pathogenic rs398123342 GRCh38 Chromosome X, 10449574: 10449574
23 MID1 NM_000381.3(MID1): c.2000C> T (p.Pro667Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs147106995 GRCh37 Chromosome X, 10417412: 10417412
24 MID1 NM_000381.3(MID1): c.2000C> T (p.Pro667Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs147106995 GRCh38 Chromosome X, 10449372: 10449372
25 MID1 NM_033290.3(MID1): c.783delA (p.Lys261Asnfs) deletion Pathogenic rs398123343 GRCh37 Chromosome X, 10463705: 10463705
26 MID1 NM_033290.3(MID1): c.783delA (p.Lys261Asnfs) deletion Pathogenic rs398123343 GRCh38 Chromosome X, 10495665: 10495665
27 MID1 NM_000381.3(MID1): c.1361A> G (p.Gln454Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs1556004400 GRCh37 Chromosome X, 10427772: 10427772
28 MID1 NM_000381.3(MID1): c.1361A> G (p.Gln454Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs1556004400 GRCh38 Chromosome X, 10459732: 10459732
29 MID1 NM_001193278.1(MID1): c.794A> G (p.Gln265Arg) single nucleotide variant Uncertain significance rs1555896387 GRCh38 Chromosome X, 10501522: 10501522
30 MID1 NM_001193278.1(MID1): c.794A> G (p.Gln265Arg) single nucleotide variant Uncertain significance rs1555896387 GRCh37 Chromosome X, 10469562: 10469562
31 MID1 NM_000381.3(MID1): c.1483C> T (p.Arg495Ter) single nucleotide variant Pathogenic rs745554420 GRCh37 Chromosome X, 10423082: 10423082
32 MID1 NM_000381.3(MID1): c.1483C> T (p.Arg495Ter) single nucleotide variant Pathogenic rs745554420 GRCh38 Chromosome X, 10455042: 10455042
33 MID1 NM_000381.3(MID1): c.1881C> A (p.Tyr627Ter) single nucleotide variant Likely pathogenic rs1556001856 GRCh37 Chromosome X, 10417531: 10417531
34 MID1 NM_000381.3(MID1): c.1881C> A (p.Tyr627Ter) single nucleotide variant Likely pathogenic rs1556001856 GRCh38 Chromosome X, 10449491: 10449491
35 MID1 NM_000381.3(MID1): c.1725G> A (p.Trp575Ter) single nucleotide variant Likely pathogenic rs1556001968 GRCh38 Chromosome X, 10449647: 10449647
36 MID1 NM_000381.3(MID1): c.1725G> A (p.Trp575Ter) single nucleotide variant Likely pathogenic rs1556001968 GRCh37 Chromosome X, 10417687: 10417687
37 MID1 NM_000381.3(MID1): c.1663A> G (p.Ile555Val) single nucleotide variant Pathogenic rs398123341 GRCh37 Chromosome X, 10417749: 10417749
38 MID1 NM_000381.3(MID1): c.1663A> G (p.Ile555Val) single nucleotide variant Pathogenic rs398123341 GRCh38 Chromosome X, 10449709: 10449709
39 MID1 NM_033290.3(MID1): c.1608_1611dup (p.Ser538Terfs) duplication Pathogenic rs1556003095 GRCh38 Chromosome X, 10454914: 10454917
40 MID1 NM_033290.3(MID1): c.1608_1611dup (p.Ser538Terfs) duplication Pathogenic rs1556003095 GRCh37 Chromosome X, 10422954: 10422957
41 MID1 NM_000381.3(MID1): c.1454delC (p.Pro485Hisfs) deletion Likely pathogenic rs1556003200 GRCh37 Chromosome X, 10423111: 10423111
42 MID1 NM_000381.3(MID1): c.1454delC (p.Pro485Hisfs) deletion Likely pathogenic rs1556003200 GRCh38 Chromosome X, 10455071: 10455071
43 MID1 NM_000381.3(MID1): c.1393G> C (p.Ala465Pro) single nucleotide variant Pathogenic rs1556004366 GRCh37 Chromosome X, 10427740: 10427740
44 MID1 NM_000381.3(MID1): c.1393G> C (p.Ala465Pro) single nucleotide variant Pathogenic rs1556004366 GRCh38 Chromosome X, 10459700: 10459700
45 MID1 NM_000381.3(MID1): c.922delC (p.Arg308Glyfs) deletion Likely pathogenic rs1555894390 GRCh37 Chromosome X, 10450611: 10450611
46 MID1 NM_000381.3(MID1): c.922delC (p.Arg308Glyfs) deletion Likely pathogenic rs1555894390 GRCh38 Chromosome X, 10482571: 10482571
47 MID1 NM_000381.3(MID1): c.829C> T (p.Arg277Ter) single nucleotide variant Pathogenic rs1555895704 GRCh38 Chromosome X, 10495619: 10495619
48 MID1 NM_000381.3(MID1): c.829C> T (p.Arg277Ter) single nucleotide variant Pathogenic rs1555895704 GRCh37 Chromosome X, 10463659: 10463659
49 MID1 NM_033290.3(MID1): c.757-1G> C single nucleotide variant Pathogenic rs1555895725 GRCh38 Chromosome X, 10495692: 10495692
50 MID1 NM_033290.3(MID1): c.757-1G> C single nucleotide variant Pathogenic rs1555895725 GRCh37 Chromosome X, 10463732: 10463732

Copy number variations for Opitz Gbbb Syndrome, Type I from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 257116 X 1 24900000 Copy number MID1 Opitz syndrome
2 257119 X 1 24900000 Copy number Mid1 Opitz syndrome

Expression for Opitz Gbbb Syndrome, Type I

Search GEO for disease gene expression data for Opitz Gbbb Syndrome, Type I.

Pathways for Opitz Gbbb Syndrome, Type I

GO Terms for Opitz Gbbb Syndrome, Type I

Sources for Opitz Gbbb Syndrome, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
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