GBBB1
MCID: OPT051
MIFTS: 47

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 57 13
Opitz Syndrome 57 76 75
Hypertelorism with Esophageal Abnormality and Hypospadias 57 75
Hypertelorism-Hypospadias Syndrome 57 75
Telecanthus-Hypospadias Syndrome 57 75
Opitz Gbbb Syndrome, X-Linked 57 73
Gbbb1 57 75
Bbbg1 57 75
Osx 57 75
Os 57 75
Opitz Bbbg Syndrome, Type I; Bbbg1 57
Opitz-G Syndrome, Type I; Ogs1 57
Opitz Syndrome, X-Linked; Osx 57
X-Linked Opitz G/bbb Syndrome 59
X-Linked Opitz Bbb/g Syndrome 59
Opitz Gbbb Syndrome X-Linked 75
Opitz Bbbg Syndrome, Type I 57
Opitz Bbbg Syndrome Type I 75
Opitz Gbbb Syndrome Type I 75
Opitz Syndrome, X-Linked 57
Opitz-G Syndrome, Type I 57
Opitz-G Syndrome, Type 2 73
X-Linked Opitz Syndrome 59
Opitz-G Syndrome Type I 75
Opitz Syndrome X-Linked 75
Opitz Gbbb Syndrome 1 75
Opitz Syndrome; Os 57
Gggb1 75
Ogs1 57
Xlos 59

Characteristics:

OMIM:

57
Miscellaneous:
genetic heterogeneity (see )

Inheritance:
x-linked recessive


HPO:

32
opitz gbbb syndrome, type i:
Inheritance heterogeneous x-linked recessive inheritance


Classifications:



Summaries for Opitz Gbbb Syndrome, Type I

OMIM : 57 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 smith-lemli-opitz syndrome and bohring-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 : 75 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 : 76 Trigonocephaly (from Greek trigonon, "triangle", and kephale, "head") is a congenital condition of... 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 229)
# Related Disease Score Top Affiliating Genes
1 smith-lemli-opitz syndrome 12.7
2 bohring-opitz syndrome 12.6
3 neuhauser eichner opitz syndrome 12.0
4 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome 12.0
5 wiedemann opitz syndrome 12.0
6 opitz gbbb syndrome, type ii 11.6
7 opitz-gbbb syndrome 11.6
8 osteogenic sarcoma 11.4
9 lathosterolosis 11.3
10 short syndrome 11.2
11 hypospadias 1, x-linked 11.1
12 encephalopathy, recurrent, of childhood 11.1
13 neurofaciodigitorenal syndrome 11.1
14 omenn syndrome 11.1
15 baculum, congenital absence of 11.1
16 early infantile epileptic encephalopathy 11.0
17 osteitis fibrosa 11.0
18 adenosarcoma of the uterus 11.0
19 jamaican vomiting sickness 11.0
20 greenberg dysplasia 11.0
21 hypospadias 2, x-linked 11.0
22 van buchem disease 11.0
23 waisman syndrome 11.0
24 x-linked opitz g/bbb syndrome 11.0
25 early-onset parkinsonism-intellectual disability syndrome 11.0
26 retinal degeneration 10.3
27 thyroiditis 10.3
28 telecanthus 10.2
29 hashimoto thyroiditis 10.2
30 lymphomatous thyroiditis 10.2
31 hypertelorism 10.2
32 hypospadias 10.2
33 dysphagia 10.2
34 hirschsprung disease 1 10.1
35 osteoporotic fracture 10.1
36 autism 10.1
37 polydactyly 10.1
38 holoprosencephaly 10.1
39 osteoid osteoma 10.0
40 placenta praevia 10.0
41 sarcoma 10.0
42 osteoporosis 10.0
43 pulmonary hypertension 10.0
44 heart disease 10.0
45 malignant hyperthermia 10.0
46 sclerosing cholangitis, neonatal 10.0
47 tenosynovitis 10.0
48 atlantoaxial subluxation 10.0
49 insulin-like growth factor i 9.9
50 cerebral palsy 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Opitz Gbbb Syndrome, Type I:

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 agenesis of corpus callosum 32 HP:0001274
3 frontal bossing 32 HP:0002007
4 high palate 32 HP:0000218
5 dysphagia 32 HP:0002015
6 global developmental delay 32 HP:0001263
7 wide nasal bridge 32 HP:0000431
8 smooth philtrum 32 HP:0000319
9 anteverted nares 32 HP:0000463
10 gastroesophageal reflux 32 HP:0002020
11 prominent forehead 32 HP:0011220
12 cleft palate 32 HP:0000175
13 cryptorchidism 32 HP:0000028
14 telecanthus 32 HP:0000506
15 hypospadias 32 HP:0000047
16 anal atresia 32 HP:0002023
17 thin upper lip vermilion 32 HP:0000219
18 cleft upper lip 32 HP:0000204
19 aspiration 32 HP:0002835
20 abnormality of cardiovascular system morphology 32 HP:0030680
21 abnormal heart morphology 32 HP:0001627
22 widow's peak 32 HP:0000349
23 posterior pharyngeal cleft 32 HP:0006783
24 abnormality of the nasopharynx 32 HP:0001739

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 Antineoplastic Agents, Hormonal Phase 3
4 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
5 Antimitotic Agents Phase 3
6 Anti-Inflammatory Agents Phase 3
7 glucocorticoids Phase 3
8 Hormone Antagonists Phase 3
9 Hormones Phase 3
10
Simvastatin Approved Phase 2,Not Applicable 79902-63-9 54454
11
Benzocaine Approved, Investigational Phase 1, Phase 2 94-09-7, 1994-09-7 2337
12 tannic acid Approved Phase 1, Phase 2
13 Phytosterol Phase 1, Phase 2,Not Applicable
14 Antimetabolites Phase 2,Not Applicable
15 Lipid Regulating Agents Phase 2,Not Applicable
16 Hypolipidemic Agents Phase 2,Not Applicable
17 Anticholesteremic Agents Phase 2,Not Applicable
18 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2,Not Applicable
19 Antioxidants Phase 2
20 Protective Agents Phase 2
21 Anesthetics Phase 2
22 Gastrointestinal Agents Phase 1, Phase 2
23 Cholic Acids 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:

41
Heart, Bone, Skin, Brain, Eye, Pituitary, Pancreas

Publications for Opitz Gbbb Syndrome, Type I

Articles related to Opitz Gbbb Syndrome, Type I:

(show top 50) (show all 527)
# Title Authors Year
1
Smith-Lemli-Opitz syndrome: clinical and biochemical correlates. ( 29455191 )
2018
2
Compromised phagosome maturation underlies RPE pathology in cell culture and whole animal models of Smith-Lemli-Opitz Syndrome. ( 29979914 )
2018
3
Lethal persistent pulmonary hypertension of the newborn in Bohring-Opitz syndrome. ( 29681105 )
2018
4
Spontaneously regressing brain lesions in Smith-Lemli-Opitz syndrome. ( 29226552 )
2018
5
Bohring-Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic mother. ( 29681100 )
2018
6
Author Correction: Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome. ( 29511293 )
2018
7
Prevention of Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome. ( 29352199 )
2018
8
Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome. ( 29300326 )
2018
9
Smith-Lemli-Opitz Syndrome in a newborn infant with developmental abnormalities and low endogenous cholesterol. ( 29355488 )
2018
10
The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome. ( 30147881 )
2018
11
Oxysterols and Retinal Degeneration in a Rat Model of Smith-Lemli-Opitz Syndrome: Implications for an Improved Therapeutic Intervention. ( 30360379 )
2018
12
Smith-Lemli-Opitz syndrome presenting as acute adrenal crisis in a child: a case report. ( 30092813 )
2018
13
Lipid-derived and other oxidative modifications of retinal proteins in a rat model of Smith-Lemli-Opitz syndrome. ( 30114413 )
2018
14
Normal IQ is possible in Smith-Lemli-Opitz syndrome. ( 28349652 )
2017
15
Structural and functional observations of the P151L MID1 mutation reveal alpha4 plays a significant role in X-linked Opitz Syndrome. ( 28548391 )
2017
16
Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome. ( 28719049 )
2017
17
Oxidative stress, serotonergic changes and decreased ultrasonic vocalizations in a mouse model of Smith-Lemli-Opitz syndrome. ( 28220990 )
2017
18
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome. ( 28229513 )
2017
19
Novel DHCR7 mutation in a case of Smith-Lemli-Opitz syndrome showing 46,XY disorder of sex development. ( 28503313 )
2017
20
Metatarsal bony syndactyly in 2 fetuses with Smith-Lemli-Opitz syndrome: An under-recognized part of the clinical spectrum. ( 28369852 )
2017
21
Bohring-opitz syndrome - A case of a rare genetic disorder. ( 28889139 )
2017
22
Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates. ( 28166604 )
2017
23
Vitamin D levels in Smith-Lemli-Opitz syndrome. ( 28796426 )
2017
24
Photosensitization of TRPA1 and TRPV1 by 7-dehydrocholesterol: implications for the Smith- Lemli-Opitz syndrome. ( 28891864 )
2017
25
Prenatal diagnosis of holoprosencephaly associated with Smith-Lemli-Opitz syndrome (SLOS) in a 46,XX fetus. ( 28805615 )
2017
26
Altered cerebrospinal fluid proteins in Smith-Lemli-Opitz syndrome patients. ( 27148958 )
2016
27
The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome. ( 26969503 )
2016
28
Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update. ( 27053961 )
2016
29
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
30
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
31
Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients. ( 26976653 )
2016
32
A novel de-novo frameshift mutation of the ASXL1 gene in a classic case of Bohring-Opitz syndrome. ( 27043953 )
2016
33
A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome. ( 27513191 )
2016
34
A Pilot Study of the Association of Markers of Cholesterol Synthesis with Disturbed Sleep in Smith-Lemli-Opitz Syndrome. ( 27244299 )
2016
35
7DHC-induced changes of Kv1.3 operation contributes to modified T cell function in Smith-Lemli-Opitz syndrome. ( 27315086 )
2016
36
Reduced cholesterol levels impair Smoothened activation in Smith-Lemli-Opitz syndrome. ( 26685159 )
2016
37
Patient iPSCs: a new discovery tool for Smith-Lemli-Opitz syndrome. ( 27050588 )
2016
38
Smith-Lemli-Opitz Syndrome- a challenging prenatal diagnosis. ( 27306473 )
2016
39
Mid1/Mid2 expression in craniofacial development and a literature review of X-linked opitz syndrome. ( 26788540 )
2016
40
Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance. ( 25921057 )
2015
41
Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome. ( 25734025 )
2015
42
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
43
Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome. ( 26364555 )
2015
44
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
45
Altered lipid subfraction profile and impaired antioxidant defense of high-density lipoprotein in Smith-Lemli-Opitz syndrome. ( 25668223 )
2015
46
Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome. ( 24500076 )
2014
47
Brothers with Smith-Lemli-Opitz Syndrome. ( 24954735 )
2014
48
A highly sensitive method for analysis of 7-dehydrocholesterol for the study of Smith-Lemli-Opitz syndrome. ( 24259532 )
2014
49
Smith-lemli-opitz syndrome: a case with annular pancreas. ( 25165593 )
2014
50
Feeding impairments associated with plasma sterols in Smith-Lemli-Opitz syndrome. ( 25039049 )
2014

Variations for Opitz Gbbb Syndrome, Type I

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

75
# 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 all 49)
# Gene Variation Type Significance SNP ID Assembly Location
1 MID1 NM_000381.3: c.1314_1316delGAT deletion Pathogenic
2 MID1 MID1, 24-BP DUP duplication Pathogenic
3 MID1 NM_000381.3: c.1558dupG duplication Pathogenic
4 MID1 NM_033290.3(MID1): c.1877T> C (p.Leu626Pro) single nucleotide variant Pathogenic rs28934611 GRCh37 Chromosome X, 10417535: 10417535
5 MID1 NM_033290.3(MID1): c.1877T> C (p.Leu626Pro) single nucleotide variant Pathogenic rs28934611 GRCh38 Chromosome X, 10449495: 10449495
6 MID1 NM_033290.3(MID1): c.343G> T (p.Glu115Ter) single nucleotide variant Pathogenic rs104894865 GRCh37 Chromosome X, 10535245: 10535245
7 MID1 NM_033290.3(MID1): c.343G> T (p.Glu115Ter) single nucleotide variant Pathogenic rs104894865 GRCh38 Chromosome X, 10567205: 10567205
8 MID1 MID1, EX1 DUP duplication Pathogenic
9 MID1 NM_033290.3(MID1): c.884T> C (p.Leu295Pro) single nucleotide variant Pathogenic rs104894866 GRCh37 Chromosome X, 10450649: 10450649
10 MID1 NM_033290.3(MID1): c.884T> C (p.Leu295Pro) single nucleotide variant Pathogenic rs104894866 GRCh38 Chromosome X, 10482609: 10482609
11 MID1 NM_000381.3: c.1546_1547delAG deletion Pathogenic
12 MID1 NM_033290.3(MID1): c.712G> T (p.Glu238Ter) single nucleotide variant Pathogenic rs387906719 GRCh37 Chromosome X, 10491176: 10491176
13 MID1 NM_033290.3(MID1): c.712G> T (p.Glu238Ter) single nucleotide variant Pathogenic rs387906719 GRCh38 Chromosome X, 10523136: 10523136
14 MID1 NM_033290.3(MID1): c.783delA (p.Lys261Asnfs) deletion Pathogenic rs398123343 GRCh37 Chromosome X, 10463705: 10463705
15 MID1 NM_033290.3(MID1): c.783delA (p.Lys261Asnfs) deletion Pathogenic rs398123343 GRCh38 Chromosome X, 10495665: 10495665
16 MID1 NM_000381.3(MID1): c.1798dupC (p.His600Profs) duplication Pathogenic rs398123342 GRCh37 Chromosome X, 10417614: 10417614
17 MID1 NM_000381.3(MID1): c.1798dupC (p.His600Profs) duplication Pathogenic rs398123342 GRCh38 Chromosome X, 10449574: 10449574
18 MID1 NM_000381.3(MID1): c.2000C> T (p.Pro667Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs147106995 GRCh37 Chromosome X, 10417412: 10417412
19 MID1 NM_000381.3(MID1): c.2000C> T (p.Pro667Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs147106995 GRCh38 Chromosome X, 10449372: 10449372
20 MID1 NM_000381.3(MID1): c.1302_1305dupTGAT (p.Ser436Terfs) duplication Pathogenic rs786200982 GRCh37 Chromosome X, 10427828: 10427831
21 MID1 NM_000381.3(MID1): c.1302_1305dupTGAT (p.Ser436Terfs) duplication Pathogenic rs786200982 GRCh38 Chromosome X, 10459788: 10459791
22 MID1 NM_033290.3(MID1): c.1447_1447+1insAACA insertion Pathogenic rs797044786 GRCh37 Chromosome X, 10427685: 10427686
23 MID1 NM_033290.3(MID1): c.1447_1447+1insAACA insertion Pathogenic rs797044786 GRCh38 Chromosome X, 10459645: 10459646
24 MID1 NM_033290.3(MID1): c.1656-8_1657delTTCCGCAGGT deletion Pathogenic GRCh38 Chromosome X, 10449715: 10449724
25 MID1 NM_033290.3(MID1): c.1656-8_1657delTTCCGCAGGT deletion Pathogenic GRCh37 Chromosome X, 10417755: 10417764
26 MID1 NM_000381.3(MID1): c.1361A> G (p.Gln454Arg) single nucleotide variant Conflicting interpretations of pathogenicity GRCh37 Chromosome X, 10427772: 10427772
27 MID1 NM_000381.3(MID1): c.1361A> G (p.Gln454Arg) single nucleotide variant Conflicting interpretations of pathogenicity GRCh38 Chromosome X, 10459732: 10459732
28 MID1 NM_001193278.1(MID1): c.794A> G (p.Gln265Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 10501522: 10501522
29 MID1 NM_001193278.1(MID1): c.794A> G (p.Gln265Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 10469562: 10469562
30 MID1 NM_000381.3(MID1): c.1483C> T (p.Arg495Ter) single nucleotide variant Pathogenic rs745554420 GRCh37 Chromosome X, 10423082: 10423082
31 MID1 NM_000381.3(MID1): c.1483C> T (p.Arg495Ter) single nucleotide variant Pathogenic rs745554420 GRCh38 Chromosome X, 10455042: 10455042
32 MID1 NM_000381.3(MID1): c.1881C> A (p.Tyr627Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 10417531: 10417531
33 MID1 NM_000381.3(MID1): c.1881C> A (p.Tyr627Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 10449491: 10449491
34 MID1 NM_000381.3(MID1): c.1725G> A (p.Trp575Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 10449647: 10449647
35 MID1 NM_000381.3(MID1): c.1725G> A (p.Trp575Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 10417687: 10417687
36 MID1 NM_000381.3(MID1): c.1663A> G (p.Ile555Val) single nucleotide variant Pathogenic rs398123341 GRCh37 Chromosome X, 10417749: 10417749
37 MID1 NM_000381.3(MID1): c.1663A> G (p.Ile555Val) single nucleotide variant Pathogenic rs398123341 GRCh38 Chromosome X, 10449709: 10449709
38 MID1 NM_033290.3(MID1): c.1608_1611dup (p.Ser538Terfs) duplication Pathogenic GRCh38 Chromosome X, 10454914: 10454917
39 MID1 NM_033290.3(MID1): c.1608_1611dup (p.Ser538Terfs) duplication Pathogenic GRCh37 Chromosome X, 10422954: 10422957
40 MID1 NM_000381.3(MID1): c.1454delC (p.Pro485Hisfs) deletion Likely pathogenic GRCh37 Chromosome X, 10423111: 10423111
41 MID1 NM_000381.3(MID1): c.1454delC (p.Pro485Hisfs) deletion Likely pathogenic GRCh38 Chromosome X, 10455071: 10455071
42 MID1 NM_000381.3(MID1): c.1393G> C (p.Ala465Pro) single nucleotide variant Pathogenic GRCh37 Chromosome X, 10427740: 10427740
43 MID1 NM_000381.3(MID1): c.1393G> C (p.Ala465Pro) single nucleotide variant Pathogenic GRCh38 Chromosome X, 10459700: 10459700
44 MID1 NM_000381.3(MID1): c.922delC (p.Arg308Glyfs) deletion Likely pathogenic GRCh37 Chromosome X, 10450611: 10450611
45 MID1 NM_000381.3(MID1): c.922delC (p.Arg308Glyfs) deletion Likely pathogenic GRCh38 Chromosome X, 10482571: 10482571
46 MID1 NM_000381.3(MID1): c.829C> T (p.Arg277Ter) single nucleotide variant Pathogenic GRCh38 Chromosome X, 10495619: 10495619
47 MID1 NM_000381.3(MID1): c.829C> T (p.Arg277Ter) single nucleotide variant Pathogenic GRCh37 Chromosome X, 10463659: 10463659
48 MID1 NM_033290.3(MID1): c.757-1G> C single nucleotide variant Pathogenic GRCh38 Chromosome X, 10495692: 10495692
49 MID1 NM_033290.3(MID1): c.757-1G> C single nucleotide variant Pathogenic 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

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