XLOS
MCID: XLN015
MIFTS: 11

X-Linked Opitz G/bbb Syndrome (XLOS)

Aliases & Classifications for X-Linked Opitz G/bbb Syndrome

MalaCards integrated aliases for X-Linked Opitz G/bbb Syndrome:

Name: X-Linked Opitz G/bbb Syndrome 25
Opitz Syndrome, X-Linked 25
Xlos 25

Characteristics:

GeneReviews:

25
Penetrance Usually the presence of an mid1 pathogenic variant is associated with clinical findings of x-os; however, recently an instance of reduced penetrance has been reported [ruiter et al 2010].

Summaries for X-Linked Opitz G/bbb Syndrome

MalaCards based summary : X-Linked Opitz G/bbb Syndrome, also known as opitz syndrome, x-linked, is related to opitz-gbbb syndrome and hypertelorism. An important gene associated with X-Linked Opitz G/bbb Syndrome is MID1 (Midline 1). Affiliated tissues include t cells.

GeneReviews: NBK1327

Related Diseases for X-Linked Opitz G/bbb Syndrome

Diseases related to X-Linked Opitz G/bbb Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 opitz-gbbb syndrome 11.6
2 hypertelorism 10.7
3 hypospadias 10.7
4 alacrima, achalasia, and mental retardation syndrome 10.4
5 cleft lip 10.4
6 cleft lip/palate 10.4
7 opitz gbbb syndrome, type ii 10.3
8 widow's peak 10.3
9 anus, imperforate 10.3
10 cryptorchidism, unilateral or bilateral 10.3
11 opitz gbbb syndrome, type i 10.3
12 heart disease 10.3
13 ventricular septal defect 10.3
14 heart septal defect 10.3
15 laryngeal cleft 10.3

Graphical network of the top 20 diseases related to X-Linked Opitz G/bbb Syndrome:



Diseases related to X-Linked Opitz G/bbb Syndrome

Symptoms & Phenotypes for X-Linked Opitz G/bbb Syndrome

Drugs & Therapeutics for X-Linked Opitz G/bbb Syndrome

Search Clinical Trials , NIH Clinical Center for X-Linked Opitz G/bbb Syndrome

Genetic Tests for X-Linked Opitz G/bbb Syndrome

Anatomical Context for X-Linked Opitz G/bbb Syndrome

MalaCards organs/tissues related to X-Linked Opitz G/bbb Syndrome:

40
T Cells

Publications for X-Linked Opitz G/bbb Syndrome

Articles related to X-Linked Opitz G/bbb Syndrome:

(show all 49)
# Title Authors PMID Year
1
R368X mutation in MID1 among recurrent mutations in patients with X-linked Opitz G/BBB syndrome. 25 61
25304119 2015
2
A novel mutation in MID1 in a patient with X-linked Opitz G/BBB syndrome. 61 25
24374473 2014
3
Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome. 61 25
23354372 2013
4
A MID1 gene mutation in a patient with Opitz G/BBB syndrome that altered the 3D structure of SPRY domain. 25 61
22407675 2012
5
A MID1 mutation associated with reduced penetrance of X-linked Opitz G/BBB syndrome. 61 25
20671548 2010
6
MID1 mutations in patients with X-linked Opitz G/BBB syndrome. 25 61
18360914 2008
7
Neonatal teeth in X-linked Opitz (G/BBB) syndrome. 61 25
16760742 2006
8
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. 25 61
15558842 2005
9
X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum. 61 25
12833403 2003
10
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome. 25 61
12545276 2003
11
MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation. 25 61
11685209 2001
12
Mid1/Mid2 expression in craniofacial development and a literature review of X-linked opitz syndrome. 25
26788540 2016
13
Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations. 25
23791568 2013
14
Hypospadias associated with hypertelorism, the mildest phenotype of Opitz syndrome. 25
21326312 2011
15
MID1 mutation screening in a large cohort of Opitz G/BBB syndrome patients: twenty-nine novel mutations identified. 25
17221865 2007
16
A structure-function study of MID1 mutations associated with a mild Opitz phenotype. 25
16378742 2006
17
Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome. 25
15121778 2004
18
Widely spaced alternative promoters, conserved between human and rodent, control expression of the Opitz syndrome gene MID1. 25
12408967 2002
19
MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders. 25
11806752 2002
20
Phosphorylation and microtubule association of the Opitz syndrome protein mid-1 is regulated by protein phosphatase 2A via binding to the regulatory subunit alpha 4. 25
11371618 2001
21
New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome. 25
11030761 2000
22
Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle. 25
10400985 1999
23
The Opitz syndrome gene product, MID1, associates with microtubules. 25
10077590 1999
24
Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxy-terminal domain. 25
9718340 1998
25
Characterization and physical mapping in human and mouse of a novel RING finger gene in Xp22. 25
9722948 1998
26
The human FXY gene is located within Xp22.3: implications for evolution of the mammalian X chromosome. 25
9425238 1998
27
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. 25
9354791 1997
28
Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature. 25
8882794 1996
29
Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome. 61
32954677 2020
30
The MID1 gene product in physiology and disease. 61
32283114 2020
31
First trimester ultrasound features of X-linked Opitz syndrome and early molecular diagnosis: case report and review of the literature. 61
31630581 2019
32
Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome. 61
29456483 2017
33
Structural and functional observations of the P151L MID1 mutation reveal alpha4 plays a significant role in X-linked Opitz Syndrome. 61
28548391 2017
34
Discovery of a Selective Aurora A Kinase Inhibitor by Virtual Screening. 61
27391133 2016
35
aura (mid1ip1l) regulates the cytoskeleton at the zebrafish egg-to-embryo transition. 61
26965374 2016
36
Optimization of TRPV6 Calcium Channel Inhibitors Using a 3D Ligand-Based Virtual Screening Method. 61
26457814 2015
37
The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review. 61
26064728 2015
38
Midline 1 directs lytic granule exocytosis and cytotoxicity of mouse killer T cells. 61
25043946 2014
39
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
40
MID1 catalyzes the ubiquitination of protein phosphatase 2A and mutations within its Bbox1 domain disrupt polyubiquitination of alpha4 but not of PP2Ac. 61
25207814 2014
41
XLOS-observed mutations of MID1 Bbox1 domain cause domain unfolding. 61
25216264 2014
42
Regulation of PP2A activity by Mid1 controls cranial neural crest speed and gangliogenesis. 61
22285438 2012
43
Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation. 61
18697196 2008
44
MED12-Related Disorders 61
20301719 2008
45
Solution structure of the MID1 B-box2 CHC(D/C)C(2)H(2) zinc-binding domain: insights into an evolutionarily conserved RING fold. 61
17428496 2007
46
X-linked Opitz G/BBB syndrome: identification of a novel mutation and prenatal diagnosis in a Korean family. 61
17043407 2006
47
X-Linked Opitz G/BBB Syndrome 61
20301502 2004
48
Distinct and diagnostic "facial gestalt" in X-linked Opitz G/BBB syndrome. 61
10422018 1999
49
The mouse Mid1 gene: implications for the pathogenesis of Opitz syndrome and the evolution of the mammalian pseudoautosomal region. 61
9467009 1998

Variations for X-Linked Opitz G/bbb Syndrome

Expression for X-Linked Opitz G/bbb Syndrome

Search GEO for disease gene expression data for X-Linked Opitz G/bbb Syndrome.

Pathways for X-Linked Opitz G/bbb Syndrome

GO Terms for X-Linked Opitz G/bbb Syndrome

Sources for X-Linked Opitz G/bbb 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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