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, heart and kidney, 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, Heart, Kidney, 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:000537110.3TP63, MSX1, AXIN2, BMP4, IRF6
2MP:000538210.2TP63, PVRL1, IRF6, BMP4, GABRB3, AXIN2
3MP:000538110.2IRF6, BMP4, GABRB3, VAX1, MSX1, SUMO1
4MP:000539110.0PVRL1, BMP4, AXIN2, VAX1, MSX1, TP63

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
Early Mother-Child Interaction and Later Quality of Attachment in Infants With an Orofacial Cleft Compared to Infants Without Cleft. (23611443)
2013
2
Identification of germline mutations in the cancer predisposing gene CDH1 in patients with orofacial clefts. (23197654)
2013
3
Maternal occupational exposure to organic solvents during early pregnancy and risks of neural tube defects and orofacial clefts. (22843436)
2012
4
Maternal occupational exposure to organic solvents during early pregnancy and risks of neural tube defects and orofacial clefts. (22447643)
2012
5
Infants' MTHFR polymorphisms and nonsyndromic orofacial clefts susceptibility: a meta-analysis based on 17 case-control studies. (22847888)
2012
6
Association between MTHFR polymorphisms and orofacial clefts risk: a meta-analysis. (22450905)
2012
7
Significant evidence of association between polymorphisms in ZNF533, environmental factors, and nonsyndromic orofacial clefts in the Western Han Chinese population. (20849254)
2011
8
Whole blood propionylcarnitine in newborns with orofacial cleft. (21470367)
2011
9
Breakthroughs in the genetics of orofacial clefting. (21885341)
2011
10
A unique presentation of 22q13 deletion syndrome: multicystic kidney, orofacial clefting, and Wilms' tumor. (20827177)
2011
11
Replication of two novel susceptibility loci for non-syndromic orofacial clefts in a Chinese population. (20860768)
2011
12
Association of CDH1 promoter polymorphism and the risk of non-syndromic orofacial clefts in a Chinese Han population. (20880515)
2011
13
Polymorphic variants of genes related to arginine metabolism and the risk of orofacial clefts. (20739017)
2010
14
Lack of association of polymorphic variants of genes encoding zinc transporters with the risk of orofacial cleft-affected pregnancies. (21478106)
2010
15
Association among polymorphisms at MYH9, environmental factors, and nonsyndromic orofacial clefts in western China. (19891592)
2010
16
New insights in collagen turnover in orofacial cleft patients. (20590460)
2010
17
Association between polymorphisms at small ubiquitin-like modifier 1 and nonsyndromic orofacial clefts in Western China. (20738159)
2010
18
Polymorphisms located in the region containing BHMT and BHMT2 genes as maternal protective factors for orofacial clefts. (20662904)
2010
19
Associations of folate and choline metabolism gene polymorphisms with orofacial clefts. (19737740)
2010
20
Midline orofacial cleft defects in association with type 1 Duane's retraction syndrome. (18691219)
2009
21
Relation between the concentration of zinc in maternal whole blood and the risk of an infant being born with an orofacial cleft. (19586695)
2009
22
Mid-pregnancy cotinine and risks of orofacial clefts and neural tube defects. (18990410)
2009
23
A left paraglossal approach for oral intubation in children scheduled for bilateral orofacial cleft reconstruction surgery--a prospective observational study. (19207900)
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
Prenatal diagnosis of partial trisomy 3p (3p21-->pter) and partial monosomy 11q (11q23-->qter) associated with abnormal sonographic findings of holoprosencephaly, orofacial clefts, pyelectasis and a unilateral duplex renal system. (18926951)
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
Spatial distribution of orofacial cleft defect births in Harris County, Texas, 1990 to 1994, and historical evidence for the presence of low-level radioactivity in tap water. (17591309)
2007
29
Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants. (17160896)
2007
30
Few associations of candidate genes with nonsyndromic orofacial clefts in the population of Lithuania. (17272867)
2007
31
An environmental cause of orofacial cleft defects or an unexplained cluster? (17591305)
2007
32
MSX1 and orofacial clefting with and without tooth agenesis. (16723652)
2006
33
Maternal smoking, genetic variation of glutathione s-transferases, and risk for orofacial clefts. (16135950)
2005
34
Studies of reduced folate carrier 1 (RFC1) A80G and 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms with neural tube and orofacial cleft defects. (15880745)
2005
35
Genetic variation in the proto-oncogene SKI and risk for orofacial clefting. (16054854)
2005
36
Periconceptional multivitamin intake during early pregnancy, genetic variation of acetyl-N-transferase 1 (NAT1), and risk for orofacial clefts. (15523664)
2004
37
Mapping of three translocation breakpoints associated with orofacial clefting within 6p24 and identification of new transcripts within the region. (15218257)
2004
38
Maternal smoking and the risk of orofacial clefts: Susceptibility with NAT1 and NAT2 polymorphisms. (15127906)
2004
39
Orofacial cleft in Southern Italy. (14765027)
2003
40
Exploring the effects of methylenetetrahydrofolate reductase gene variants C677T and A1298C on the risk of orofacial clefts in 261 Norwegian case-parent triads. (12796044)
2003
41
Orofacial cleft malformations: associations with maternal and infant characteristics in Washington State. (14703786)
2003
42
Orofacial clefts and spina bifida: N-acetyltransferase phenotype, maternal smoking, and medication use. (12397635)
2002
43
Linkage analysis of three candidate regions of chromosome 1 in nonsyndromic familial orofacial cleft. (11811149)
2001
44
Severe acrofacial dysostosis with orofacial clefting and tetraphocomelia diagnosed in the plaster cast of a 100-year-old anatomical specimen. (9674917)
1998
45
Infant TGF-alpha genotype, orofacial clefts, and maternal periconceptional multivitamin use. (9684776)
1998
46
Orofacial cleft defects: inference from nature and nurture. (9706339)
1998
47
A locus in 2p13-p14 (OFC2), in addition to that mapped in 6p23, is involved in nonsyndromic familial orofacial cleft malformation. (9676424)
1998
48
Suggestion of linkage of a major locus for nonsyndromic orofacial cleft with F13A and tentative assignment to chromosome 6. (2888553)
1987
49
Incidence of sensory integrative dysfunction among children with orofacial cleft. (7223831)
1981
50
Seizure disorder in mothers of children with orofacial clefts: a case-control study. (4810733)
1974

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

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

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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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