MCID: XLN015
MIFTS: 8

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 24

Summaries for X-Linked Opitz G/bbb Syndrome

MalaCards based summary : X-Linked Opitz G/bbb Syndrome 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:

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:

41
Heart

Publications for X-Linked Opitz G/bbb Syndrome

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

# Title Authors Year
1
Two Novel Pathogenic <i>MID1</i> Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome. ( 29456483 )
2017
2
R368X mutation in MID1 among recurrent mutations in patients with X-linked Opitz G/BBB syndrome. ( 25304119 )
2014
3
Prenatal diagnosis of maternally inherited X-linked Opitz G/BBB syndrome by chromosomal microarray in a fetus with complex congenital heart disease. ( 24863803 )
2014
4
A novel mutation in MID1 in a patient with X-linked Opitz G/BBB syndrome. ( 24374473 )
2014
5
A MID1 mutation associated with reduced penetrance of X-linked Opitz G/BBB syndrome. ( 20671548 )
2010
6
MID1 mutations in patients with X-linked Opitz G/BBB syndrome. ( 18360914 )
2008
7
X-linked Opitz G/BBB syndrome: identification of a novel mutation and prenatal diagnosis in a Korean family. ( 17043407 )
2006
8
Neonatal teeth in X-linked Opitz (G/BBB) syndrome. ( 16760742 )
2006
9
Distinct and diagnostic &amp;quot;facial gestalt&amp;quot; in X-linked Opitz G/BBB syndrome. ( 10422018 )
1999
10
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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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