MCID: ORF002
MIFTS: 43

Orofacial Cleft malady

Summaries for Orofacial Cleft

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Cleft lip (cheiloschisis) and cleft palate (palatoschisis), which can also occur together as cleft lip... more...

MalaCards: Orofacial Cleft is related to tooth agenesis and cleft lip. An important gene associated with Orofacial Cleft is IRF6 (interferon regulatory factor 6), and among its related pathways are TP53 network and Neural Crest Differentiation. The compounds betaine and n1-acetylspermine have been mentioned in the context of this disorder. Affiliated tissues include whole blood, kidney and heart, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Description from OMIM:46 608874,600625,608864,613705

Aliases & Classifications for Orofacial Cleft

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8Disease Ontology, 22GTR, 46OMIM
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Aliases & Descriptions:

orofacial cleft 8 22


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Disease Ontology8 DOID:0050567

Related Diseases for Orofacial Cleft

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Orofacial Cleft:



Diseases related to orofacial cleft

Clinical Features for Orofacial Cleft

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46OMIM
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Clinical features from OMIM:

608874,600625,608864,613705

Drugs & Therapeutics for Orofacial Cleft

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Orofacial Cleft

Drug clinical trials:

Search ClinicalTrials for Orofacial Cleft

Search NIH Clinical Center for Orofacial Cleft

Search CenterWatch for Orofacial Cleft

Genetic Tests for Orofacial Cleft

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22GTR
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Genetic tests related to Orofacial Cleft:

id Genetic test Affiliating Genes
1 Orofacial Cleft22

Anatomical Context for Orofacial Cleft

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32MalaCards
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MalaCards organs/tissues related to Orofacial Cleft:

32
Whole blood, Kidney, Heart, Endothelial

Animal Models for Orofacial Cleft or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Orofacial Cleft:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537110.3BMP4, AXIN2, MSX1, TP63, IRF6
2MP:000538210.2TP63, PVRL1, IRF6, BMP4, GABRB3, AXIN2
3MP:000538110.2IRF6, BMP4, GABRB3, VAX1, MSX1, SUMO1
4MP:000539110.0BMP4, AXIN2, VAX1, MSX1, TP63, PVRL1

Publications for Orofacial Cleft

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50PubMed
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Articles related to Orofacial Cleft:

(show top 50)    (show all 98)
idTitleAuthorsYear
1
Orbital Prosthetic Rehabilitation in "ADAM Complex" Multiple Orofacial-Cleft Disruption Syndrome. (23762737)
2013
2
Early Mother-Child Interaction and Later Quality of Attachment in Infants With an Orofacial Cleft Compared to Infants Without Cleft. (23611443)
2013
3
Early mother-child interaction and later quality of attachment in infants with an orofacial cleft compared to infants without cleft. (24218985)
2013
4
Identification of germline mutations in the cancer predisposing gene CDH1 in patients with orofacial clefts. (23197654)
2013
5
Patterns of tooth agenesis in patients with orofacial clefts. (23841784)
2013
6
Mesenchymal stem cells - a promising perspective in the orofacial cleft surgery. (23331197)
2013
7
Extension of orofacial cleft size and gestational bleeding in early pregnancy. (23565843)
2012
8
Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts. (22419666)
2012
9
VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of a VAX1 phenotype in humans. (22095910)
2012
10
Reduced risks of neural tube defects and orofacial clefts with higher diet quality. (21969361)
2012
11
Infants' MTHFR polymorphisms and nonsyndromic orofacial clefts susceptibility: a meta-analysis based on 17 case-control studies. (22847888)
2012
12
Whole blood propionylcarnitine in newborns with orofacial cleft. (21470367)
2011
13
A unique presentation of 22q13 deletion syndrome: multicystic kidney, orofacial clefting, and Wilms' tumor. (20827177)
2011
14
Interactions between small ubiquitin-like modifier 1 and nonsyndromic orofacial clefts. (21189065)
2011
15
Methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and nonsyndromic orofacial clefts susceptibility in a southern Chinese population. (21612398)
2011
16
Association of CDH1 promoter polymorphism and the risk of non-syndromic orofacial clefts in a Chinese Han population. (20880515)
2011
17
IRF6 polymorphisms are associated with nonsyndromic orofacial clefts in a Chinese Han population. (20799332)
2010
18
Lack of association of polymorphic variants of genes encoding zinc transporters with the risk of orofacial cleft-affected pregnancies. (21478106)
2010
19
Chromosomal abnormalities in finnish orofacial cleft patients: excess of submucous cleft patients? (20163256)
2010
20
The maternal homocysteine pathway is influenced by riboflavin intake and MTHFR polymorphisms without affecting the risk of orofacial clefts in the offspring. (19935819)
2010
21
Interdisciplinary craniofacial teams compared with individual providers: is orofacial cleft care more comprehensive and do parents perceive better outcomes? (20078199)
2010
22
The 18q deletion syndrome and analysis of the critical region for orofacial cleft at 18q22.3. (19157891)
2009
23
Association among IRF6 polymorphism, environmental factors, and nonsyndromic orofacial clefts in western china. (19388848)
2009
24
The MSX1 allele 4 homozygous child exposed to smoking at periconception is most sensitive in developing nonsyndromic orofacial clefts. (18932005)
2008
25
Does lamotrigine use in pregnancy increase orofacial cleft risk relative to other malformations? (18650491)
2008
26
Mutation screening in the IRF6-gene in patients with apparently nonsyndromic orofacial clefts and a positive family history suggestive of autosomal-dominant inheritance. (18247422)
2008
27
Spatial distribution of orofacial cleft defect births in Harris County, Texas, and radium in the public water supplies: a persistent association? (19065472)
2008
28
Maternal smoking during early pregnancy, GSTP1 and EPHX1 variants, and risk of isolated orofacial clefts. (17608547)
2007
29
Hyperhomocysteinemia and MTHFR polymorphisms in association with orofacial clefts and congenital heart defects: a meta-analysis. (17431894)
2007
30
An environmental cause of orofacial cleft defects or an unexplained cluster? (17591305)
2007
31
Orofacial clefting: update on the role of genetics. (17366841)
2006
32
Maternal smoking, genetic variation of glutathione s-transferases, and risk for orofacial clefts. (16135950)
2005
33
Endothelial nitric oxide synthase (NOS3) genetic variants, maternal smoking, vitamin use, and risk of human orofacial clefts. (16269583)
2005
34
Genetic variation in the proto-oncogene SKI and risk for orofacial clefting. (16054854)
2005
35
Maternal dietary B vitamin intake, other than folate, and the association with orofacial cleft in the offspring. (14991264)
2004
36
Maternal nutritional status and the risk for orofacial cleft offspring in humans. (15514283)
2004
37
Recent developments in orofacial cleft genetics. (12621282)
2003
38
Variants of developmental genes (TGFA, TGFB3, and MSX1) and their associations with orofacial clefts: a case-parent triad analysis. (12652527)
2003
39
Amniotic band syndrome with significant orofacial clefts and disruptions and distortions of craniofacial structures. (12677585)
2003
40
Orofacial cleft malformations: associations with maternal and infant characteristics in Washington State. (14703786)
2003
41
Coxsackie viral infection and orofacial cleft. (12583506)
2002
42
Aryl hydrocarbon receptor nuclear translocator 2 (ARNT2): structure, gene mapping, polymorphisms, and candidate evaluation for human orofacial clefts. (12210012)
2002
43
Natural history of 70 fetuses with a prenatally diagnosed orofacial cleft. (12065955)
2002
44
Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts. (12161593)
2002
45
Linkage analysis of candidate endothelin pathway genes in nonsyndromic familial orofacial cleft. (11415518)
2000
46
Combined segregation and linkage analysis of nonsyndromic orofacial cleft in two candidate regions. (10738518)
1999
47
Candidate genes for nonsyndromic cleft lip and palate and maternal cigarette smoking and alcohol consumption: evaluation of genotype-environment interactions from a population-based case-control study of orofacial clefts. (9988882)
1999
48
Maternal alcohol use and risk of orofacial cleft birth defects. (8916367)
1996
49
Possible teratogenic potential of certain virus infections as related to patients with orofacial cleft. (1681721)
1991
50
The incidence of sensory integrative dysfunction among children with orofacial cleft: a critique. (7267665)
1980

Genetic Variations for Orofacial Cleft

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Expression for genes affiliated with Orofacial Cleft

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Orofacial Cleft

Search GEO for disease gene expression data for Orofacial Cleft.

Pathways for genes affiliated with Orofacial Cleft

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37NCBI BioSystems Database
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Pathways related to Orofacial Cleft according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.4TP63, SUMO1
210.4BMP4, AXIN2, MSX1
3
Hide members
10.4BHMT2, BHMT
410.4BHMT2, BHMT
510.4BHMT2, BHMT

Compounds for genes affiliated with Orofacial Cleft

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44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank
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Compounds related to Orofacial Cleft according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1betaine44 2411.5BHMT2, BHMT, CHDH
2n1-acetylspermine44 2411.5CHDH, BHMT, BHMT2
3putrescine44 28 11 2413.4BHMT2, BHMT, CHDH
4dimethylglycine44 2411.4BHMT, BHMT2
5L-Methionine11 2411.4BHMT2, BHMT
6spermidine44 28 11 2413.3BHMT2, BHMT, CHDH
7spermine44 28 11 2413.1BHMT2, BHMT, CHDH

GO Terms for genes affiliated with Orofacial Cleft

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16Gene Ontology
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Biological processes related to Orofacial Cleft according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1cloacal septationGO:06019710.6BMP4, TP63
2methionine biosynthetic processGO:00908610.5BHMT2, BHMT
3odontogenesis of dentin-containing toothGO:04247510.5BMP4, TP63, MSX1
4smooth muscle tissue developmentGO:04874510.5BMP4, TP63
5keratinocyte proliferationGO:04361610.4IRF6, TP63
6odontogenesisGO:04247610.4AXIN2, BMP4
7positive regulation of cell deathGO:01094210.3BMP4, AXIN2
8protein localization to nucleusGO:03450410.1BMP4, MSX1

Molecular functions related to Orofacial Cleft according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1homocysteine S-methyltransferase activityGO:00889810.4BHMT2, BHMT
2betaine-homocysteine S-methyltransferase activityGO:04715010.1BHMT2, BHMT

Products for genes affiliated with Orofacial Cleft

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  • Antibodies
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Sources for Orofacial Cleft

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet