MCID: XLN015
MIFTS: 9

X-Linked Opitz G/bbb Syndrome

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
Xlos 23

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]...

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 opitz gbbb syndrome, type i. An important gene associated with X-Linked Opitz G/bbb Syndrome is MID1 (Midline 1). 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:

# Related Disease Score Top Affiliating Genes
1 opitz-gbbb syndrome 11.9
2 opitz gbbb syndrome, type i 11.5
3 heart disease 10.2

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:

38
Heart

Publications for X-Linked Opitz G/bbb Syndrome

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

# Title Authors Year
1
R368X mutation in MID1 among recurrent mutations in patients with X-linked Opitz G/BBB syndrome. ( 25304119 )
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
A novel mutation in MID1 in a patient with X-linked Opitz G/BBB syndrome. ( 24374473 )
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
Neonatal teeth in X-linked Opitz (G/BBB) syndrome. ( 16760742 )
2006
7
X-linked Opitz G/BBB syndrome: identification of a novel mutation and prenatal diagnosis in a Korean family. ( 17043407 )
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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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