GBBB1
MCID: OPT051
MIFTS: 45

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 29 13 6
Opitz Syndrome 57 73 72
Hypertelorism with Esophageal Abnormality and Hypospadias 57 72
Hypertelorism-Hypospadias Syndrome 57 72
Telecanthus-Hypospadias Syndrome 57 72
Opitz Gbbb Syndrome, X-Linked 57 70
Opitz Gbbb Syndrome Type I 12 72
Gbbb1 57 72
Bbbg1 57 72
Osx 57 72
Os 57 72
Opitz Bbbg Syndrome, Type I; Bbbg1 57
Opitz-G Syndrome, Type I; Ogs1 57
Opitz Syndrome, X-Linked; Osx 57
Opitz Gbbb Syndrome X-Linked 72
Opitz Bbbg Syndrome, Type I 57
Opitz Bbbg Syndrome Type I 72
Opitz Syndrome, X-Linked 57
Opitz-G Syndrome, Type I 57
Opitz-G Syndrome, Type 2 70
Opitz-G Syndrome Type I 72
Opitz Syndrome X-Linked 72
Opitz Gbbb Syndrome 1 72
Opitz Syndrome; Os 57
Gggb1 72
Ogs1 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
genetic heterogeneity (see )

Inheritance:
x-linked recessive


HPO:

31
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) (Updated 05-Apr-2021)

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 tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and skin, and related phenotypes are agenesis of corpus callosum and frontal bossing

Disease Ontology : 12 An Opitz-GBBB syndrome that has material basis in mutation in the MID1 gene on Xp22.

UniProtKB/Swiss-Prot : 72 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 : 73 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 227)
# Related Disease Score Top Affiliating Genes
1 smith-lemli-opitz syndrome 11.9
2 bohring-opitz syndrome 11.9
3 opitz gbbb syndrome, type ii 11.8
4 opitz-gbbb syndrome 11.5
5 encephalopathy, recurrent, of childhood 11.2
6 waisman syndrome 11.2
7 neurofaciodigitorenal syndrome 11.1
8 hypospadias 1, x-linked 11.1
9 x-linked opitz g/bbb syndrome 11.1
10 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome 11.0
11 van buchem disease 11.0
12 lathosterolosis 11.0
13 c syndrome 11.0
14 greenberg dysplasia 11.0
15 hypospadias 2, x-linked 11.0
16 perching syndrome 11.0
17 autosomal recessive disease 10.6
18 chromosome 2q35 duplication syndrome 10.6
19 microcephaly 10.5
20 alacrima, achalasia, and mental retardation syndrome 10.5
21 polydactyly 10.4
22 retinal degeneration 10.4
23 holoprosencephaly 10.3
24 cataract 10.3
25 hirschsprung disease 1 10.3
26 ptosis 10.3
27 hypertelorism 10.3
28 hypospadias 10.3
29 dysphagia 10.3
30 autism spectrum disorder 10.2
31 heart septal defect 10.2
32 hypotonia 10.2
33 pyloric stenosis 10.2
34 oligohydramnios 10.2
35 down syndrome 10.1
36 autism 10.1
37 abnormal hair, joint laxity, and developmental delay 10.1
38 atrioventricular septal defect 10.1
39 pseudohermaphroditism 10.1
40 exophthalmos 10.1
41 cleft lip 10.1
42 cleft lip/palate 10.1
43 cleft palate, isolated 10.0
44 telecanthus 10.0
45 vesicoureteral reflux 1 10.0
46 cryptorchidism, unilateral or bilateral 10.0
47 cerebral palsy 10.0
48 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 10.0
49 chondrodysplasia punctata syndrome 10.0
50 desmosterolosis 10.0

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:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 31 HP:0001274
2 frontal bossing 31 HP:0002007
3 dysphagia 31 HP:0002015
4 high palate 31 HP:0000218
5 global developmental delay 31 HP:0001263
6 hypertelorism 31 HP:0000316
7 wide nasal bridge 31 HP:0000431
8 smooth philtrum 31 HP:0000319
9 anteverted nares 31 HP:0000463
10 gastroesophageal reflux 31 HP:0002020
11 prominent forehead 31 HP:0011220
12 cleft palate 31 HP:0000175
13 cryptorchidism 31 HP:0000028
14 anal atresia 31 HP:0002023
15 cleft upper lip 31 HP:0000204
16 thin upper lip vermilion 31 HP:0000219
17 hypospadias 31 HP:0000047
18 telecanthus 31 HP:0000506
19 abnormality of cardiovascular system morphology 31 HP:0030680
20 abnormal heart morphology 31 HP:0001627
21 widow's peak 31 HP:0000349
22 aspiration 31 HP:0002835
23 posterior pharyngeal cleft 31 HP:0006783
24 abnormal nasopharynx morphology 31 HP:0001739

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
agenesis of corpus callosum
developmental delay

Head And Neck Eyes:
hypertelorism
telecanthus

Head And Neck Face:
prominent forehead
flat philtrum

Genitourinary Internal Genitalia Male:
cryptorchidism

Skin Nails Hair Hair:
widow's peak

Respiratory Nasopharynx:
posterior pharyngeal cleft

Abdomen Gastrointestinal:
dysphagia
gastroesophageal reflux
imperforate anus

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

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

Genitourinary External Genitalia Male:
hypospadias

Respiratory Lung:
aspiration

Cardiovascular Heart:
congenital heart defect

Clinical features from OMIM®:

300000 (Updated 05-Apr-2021)

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 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, Type I

Genetic Tests for Opitz Gbbb Syndrome, Type I

Genetic tests related to Opitz Gbbb Syndrome, Type I:

# Genetic test Affiliating Genes
1 Opitz Gbbb Syndrome, Type I 29 MID1

Anatomical Context for Opitz Gbbb Syndrome, Type I

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

40
Brain, Heart, Skin, Liver, Retina, Bone, Bone Marrow

Publications for Opitz Gbbb Syndrome, Type I

Articles related to Opitz Gbbb Syndrome, Type I:

(show top 50) (show all 910)
# Title Authors PMID Year
1
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. 61 57 6
15558842 2005
2
New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome. 6 57 61
11030761 2000
3
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. 6 57 61
9354791 1997
4
Hypospadias associated with hypertelorism, the mildest phenotype of Opitz syndrome. 61 6
21326312 2011
5
Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome. 61 57
15121778 2004
6
X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum. 61 57
12833403 2003
7
MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation. 57 61
11685209 2001
8
Further delineation of the Opitz G/BBB syndrome: report of an infant with complex congenital heart disease and bladder exstrophy, and review of the literature. 61 57
9677070 1998
9
Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2. 57 61
7493033 1995
10
Prenatal diagnosis of Opitz (BBB) syndrome in the second trimester by ultrasound detection of hypospadias and hypertelorism. 57 61
2694153 1989
11
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
12
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
13
MID1 mutations in patients with X-linked Opitz G/BBB syndrome. 6
18360914 2008
14
Active transport of the ubiquitin ligase MID1 along the microtubules is regulated by protein phosphatase 2A. 6
18949047 2008
15
MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified. 6
17221865 2007
16
Congenital chylothorax in Opitz G/BBB syndrome. 57
16619207 2006
17
Somatostatin for intractable postoperative chylothorax in a premature infant. 57
15711803 2005
18
Severe congenital chylothorax treated with octreotide. 57
15044932 2004
19
Treatment of chylothorax in a premature infant using somatostatin. 57
14566354 2003
20
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome. 6
12545276 2003
21
Pituitary macroadenoma and cranial osteoma in a manifesting heterozygote with the Opitz G/BBB syndrome. 57
9843057 1998
22
Withdrawn: Opitz oculo-genito-laryngeal syndrome: a rare cause of recurrent aspiration pneumonia in an adult. 57
9624301 1998
23
Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature. 57
8882794 1996
24
Opitz GBBB syndrome: chromosomal evidence of an X-linked form. 57
8849003 1995
25
Auditory phenotype of Smith-Lemli-Opitz syndrome. 61
33529473 2021
26
Effective sample preparation procedure for the analysis of free neutral steroids, free steroid acids and sterol sulfates in different tissues by GC-MS. 61
33757894 2021
27
Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature. 61
33751773 2021
28
Novel truncating mutations in ASXL1 identified in two boys with Bohring-Opitz syndrome. 61
33529703 2021
29
Bile acid biosynthesis in Smith-Lemli-Opitz syndrome bypassing cholesterol: Potential importance of pathway intermediates. 61
33246156 2021
30
Transcriptomic Changes Associated with Loss of Cell Viability Induced by Oxysterol Treatment of a Retinal Photoreceptor-Derived Cell Line: An In Vitro Model of Smith-Lemli-Opitz Syndrome. 61
33652836 2021
31
Prescription Medications Alter Neuronal and Glial Cholesterol Synthesis. 61
33528983 2021
32
Autism: Screening of inborn errors of metabolism and unexpected results. 61
33605552 2021
33
Clinical Syndromic Phenotypes and the Potential Role of Genetics in Pulmonary Vein Stenosis. 61
33578785 2021
34
Generation and validation of a conditional knockout mouse model for desmosterolosis. 61
33524375 2021
35
Dysbiosis of the intestinal microbiome as a component of pathophysiology in the inborn errors of metabolism. 61
33358495 2021
36
EDITOR'S PERSPECTIVE: On the verge of translation: Combined cholesterol-antioxidant supplementation as a potential therapeutic intervention for Smith-Lemli-Opitz syndrome. 61
33307076 2021
37
Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions. 61
33242595 2021
38
FREQMAX provides an alternative approach for determining high-resolution allele frequency thresholds in carrier screening. 61
33032373 2020
39
Visualisation of cholesterol and ganglioside GM1 in zebrafish models of Niemann-Pick type C disease and Smith-Lemli-Opitz syndrome using light sheet microscopy. 61
33079236 2020
40
Generation and validation of a conditional knockout mouse model for the study of the Smith-Lemli-Opitz Syndrome. 61
33203720 2020
41
Maternal cariprazine exposure inhibits embryonic and postnatal brain cholesterol biosynthesis. 61
32504050 2020
42
Generation and validation of a conditional knockout mouse model for the study of the Smith-Lemli-Opitz syndrome. 61
33410752 2020
43
Alazami syndrome: Phenotypic expansion and clinical resemblance to Smith-Lemli-Opitz syndrome. 61
32888391 2020
44
[Clinical and genetic analysis of a Chinese pedigree affected with Smith-Lemli-Opitz syndrome]. 61
33179238 2020
45
Familial DHCR7 genotype presenting as a very mild form of Smith-Lemli-Opitz syndrome and lethal holoprosencephaly. 61
33204589 2020
46
Dietary cholesterol supplementation and inhibitory factor 1 serum levels in two dizygotic Smith-Lemli-Opitz syndrome twins: a case report. 61
33115520 2020
47
Occurrence of c.976 G>T (p.Val326Leu) and c.452 G>A (p.Trp151Ter) variants in DHCR7 gene in population of polish women with recurrent miscarriage. 61
32629226 2020
48
Fetal Pancake Kidney: Prenatal Diagnosis and Postnatal Follow-up. 61
32105372 2020
49
Smith-Lemli-Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant? 61
32055014 2020
50
The MID1 gene product in physiology and disease. 61
32283114 2020

Variations for Opitz Gbbb Syndrome, Type I

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

6 (show all 30)
# 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 MID1 NM_033290.4(MID1):c.1544_1545AG[1] (p.Thr518_Pro519insTer) Microsatellite Pathogenic 10812 rs1569268029 GRCh37: X:10423018-10423019
GRCh38: X:10454978-10454979
11 MID1 NM_000381.4(MID1):c.1798dup (p.His600fs) Duplication Pathogenic 92876 rs398123342 GRCh37: X:10417613-10417614
GRCh38: X:10449573-10449574
12 MID1 NM_000381.4(MID1):c.757-1G>C SNV Pathogenic 547520 rs1555895725 GRCh37: X:10463732-10463732
GRCh38: X:10495692-10495692
13 MID1 NM_000381.4(MID1):c.1608_1611dup (p.Ser538Ter) Duplication Pathogenic 547525 rs1556003095 GRCh37: X:10422953-10422954
GRCh38: X:10454913-10454914
14 MID1 NM_000381.4(MID1):c.1663A>G (p.Ile555Val) SNV Pathogenic 547526 rs398123341 GRCh37: X:10417749-10417749
GRCh38: X:10449709-10449709
15 MID1 NM_000381.4(MID1):c.829C>T (p.Arg277Ter) SNV Pathogenic 547521 rs1555895704 GRCh37: X:10463659-10463659
GRCh38: X:10495619-10495619
16 MID1 NM_000381.4(MID1):c.1483C>T (p.Arg495Ter) SNV Pathogenic 523781 rs745554420 GRCh37: X:10423082-10423082
GRCh38: X:10455042-10455042
17 MID1 NM_000381.4(MID1):c.1393G>C (p.Ala465Pro) SNV Pathogenic 547523 rs1556004366 GRCh37: X:10427740-10427740
GRCh38: X:10459700-10459700
18 MID1 NM_000381.4(MID1):c.1454del (p.Pro485fs) Deletion Likely pathogenic 547524 rs1556003200 GRCh37: X:10423111-10423111
GRCh38: X:10455071-10455071
19 MID1 NM_000381.4(MID1):c.1725G>A (p.Trp575Ter) SNV Likely pathogenic 547527 rs1556001968 GRCh37: X:10417687-10417687
GRCh38: X:10449647-10449647
20 MID1 NM_000381.4(MID1):c.1881C>A (p.Tyr627Ter) SNV Likely pathogenic 547528 rs1556001856 GRCh37: X:10417531-10417531
GRCh38: X:10449491-10449491
21 MID1 NM_000381.4(MID1):c.1142-1G>T SNV Likely pathogenic 989248 GRCh37: X:10437881-10437881
GRCh38: X:10469841-10469841
22 MID1 NM_000381.4(MID1):c.922del (p.Arg308fs) Deletion Likely pathogenic 547522 rs1555894390 GRCh37: X:10450611-10450611
GRCh38: X:10482571-10482571
23 MID1 NM_000381.4(MID1):c.1361A>G (p.Gln454Arg) SNV Likely pathogenic 522030 rs1556004400 GRCh37: X:10427772-10427772
GRCh38: X:10459732-10459732
24 MID1 NM_000381.4(MID1):c.388G>A (p.Ala130Thr) SNV Likely pathogenic 973281 GRCh37: X:10535200-10535200
GRCh38: X:10567160-10567160
25 MID1 NM_000381.4(MID1):c.1655+1G>A SNV Likely pathogenic 981742 GRCh37: X:10422909-10422909
GRCh38: X:10454869-10454869
26 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
27 MID1 NM_000381.4(MID1):c.476A>G (p.His159Arg) SNV Uncertain significance 1030754 GRCh37: X:10535112-10535112
GRCh38: X:10567072-10567072
28 MID1 NM_000381.4(MID1):c.757-5831A>G SNV Uncertain significance 523056 rs1555896387 GRCh37: X:10469562-10469562
GRCh38: X:10501522-10501522
29 MID1 NM_000381.4(MID1):c.1495G>A (p.Val499Met) SNV Uncertain significance 689640 rs868016081 GRCh37: X:10423070-10423070
GRCh38: X:10455030-10455030
30 MID1 NM_000381.4(MID1):c.107G>A (p.Arg36His) SNV Uncertain significance 873525 GRCh37: X:10535481-10535481
GRCh38: X:10567441-10567441

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

72
# 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

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

7
# CNVD ID Chromosome 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
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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