MCID: XLN015
MIFTS: 12

X-Linked Opitz G/bbb Syndrome

Categories: Genetic diseases

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 23
Opitz Syndrome, X-Linked 23 24
Xlos 23 24
Opitz G/bbb Syndrome, X-Linked 24

Characteristics:

GeneReviews:

23
Penetrance Usually the presence of an mid1 pathogenic variant is associated with clinical findings of xlos; however, recently an instance of reduced penetrance has been reported [ruiter et al 2010]...

Classifications:



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, type i and opitz-gbbb syndrome. An important gene associated with X-Linked Opitz G/bbb Syndrome is MID1 (Midline 1). The drug Phytosterol has been mentioned in the context of this disorder. Affiliated tissues include heart.

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:

id Related Disease Score Top Affiliating Genes
1 opitz gbbb syndrome, type i 11.4
2 opitz-gbbb syndrome 11.4
3 heart disease 10.2

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

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

Drugs for X-Linked Opitz G/bbb Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Phytosterol Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome Unknown status NCT01356420

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

Genetic Tests for X-Linked Opitz G/bbb Syndrome

Genetic tests related to X-Linked Opitz G/bbb Syndrome:

id Genetic test Affiliating Genes
1 Opitz G/bbb Syndrome, X-Linked 24 MID1

Anatomical Context for X-Linked Opitz G/bbb Syndrome

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

39
Heart

Publications for X-Linked Opitz G/bbb Syndrome

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

id Title Authors Year
1
A novel mutation in MID1 in a patient with X-linked Opitz G/BBB syndrome. ( 24374473 )
2014
2
Prenatal diagnosis of maternally inherited X-linked Opitz G/BBB syndrome by chromosomal microarray in a fetus with complex congenital heart disease. ( 24863803 )
2014
3
R368X mutation in MID1 among recurrent mutations in patients with X-linked Opitz G/BBB syndrome. ( 25304119 )
2014
4
A MID1 mutation associated with reduced penetrance of X-linked Opitz G/BBB syndrome. ( 20671548 )
2010
5
MID1 mutations in patients with X-linked Opitz G/BBB syndrome. ( 18360914 )
2008
6
X-linked Opitz G/BBB syndrome: identification of a novel mutation and prenatal diagnosis in a Korean family. ( 17043407 )
2006
7
Neonatal teeth in X-linked Opitz (G/BBB) syndrome. ( 16760742 )
2006
8
Distinct and diagnostic "facial gestalt" in X-linked Opitz G/BBB syndrome. ( 10422018 )
1999
9
X-Linked Opitz G/BBB Syndrome ( 20301502 )
1993

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
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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