MCID: ORF002
MIFTS: 47

Orofacial Cleft malady

Genetic diseases (common) category
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Summaries for Orofacial Cleft

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65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 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 Apoptosis and Wnt / Hedgehog / Notch. The compounds steroid and progesterone have been mentioned in the context of this disorder. Affiliated tissues include whole blood, kidney and heart, and related mouse phenotypes are hearing/vestibular/ear and endocrine/exocrine gland.

Description from OMIM:47 608874,600625,613705,608864

Aliases & Classifications for Orofacial Cleft

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8Disease Ontology, 22GTR, 47OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

orofacial cleft 8 22


External Ids:

Disease Ontology8 DOID:0050567

Related Diseases for Orofacial Cleft

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17GeneCards, 18GeneDecks
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Diseases in the Orofacial Cleft 5 family:

orofacial cleft Orofacial Cleft 6, Susceptibility to
Orofacial Cleft 8 Orofacial Cleft 13
Orofacial Cleft 14 Orofacial Cleft-2
Orofacial Cleft 4 Orofacial Cleft-1
Orofacial Cleft 12 Orofacial Cleft 7
Orofacial Cleft 9 Orofacial Cleft-3

Diseases related to Orofacial Cleft via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1tooth agenesis30.4IRF6, MSX1, BMP4, AXIN2
2cleft lip30.0BMP4, MSX1, PVRL1, IRF6, TP63
3orofacial cleft 510.4
4neural tube defects10.4
5orofacial cleft 6, susceptibility to10.4
6orofacial cleft 810.4
7spina bifida10.3
8orofacial cleft1110.3
9orofacial cleft 410.3
10orofacial cleft 1210.3
11orofacial cleft 710.3
12orofacial cleft 910.3
13orofacial cleft1010.2
14orofacial cleft 1310.2
15orofacial cleft 1410.2
16tooth agenesis, selective, 1, with or without orofacial cleft10.2
17ectodermal dysplasia10.1TP63
18hyperhomocysteinemia10.1
19microphthalmia10.1
20holoprosencephaly10.1
21aortic aneurysm10.1
22dysostosis10.1
23hemangioma10.1
24wilms tumor10.1
25amniotic band syndrome10.1
26corpus callosum agenesis10.1
27eec syndrome10.1
28limb deficiencies distal with micrognathia10.1
29phace syndrome10.1
30split-hand/foot malformation, type 410.1
3118q deletion syndrome10.1
32aneurysm10.1
33seizure disorder10.1
34orofacial cleft-210.1
35orofacial cleft-110.1
36split-hand/foot malformation 610.1
37orofacial cleft-310.1
38facial clefting, oblique, 110.1
39endotheliitis10.1
40orofaciodigital syndrome type 1410.1
41anophthalmia/microphthalmia10.1VAX1
42synostosis10.0BMP4, MSX1
43polydactyly10.0MSX1, BMP4
44adenoma10.0AXIN2, BMP4, TP63
45viral infectious disease9.9PVRL1, IRF6, SUMO1
46cleft palate9.9TP63, IRF6, PVRL1, MSX1, BMP4

Graphical network of the top 20 diseases related to Orofacial Cleft:



Diseases related to orofacial cleft

Symptoms for Orofacial Cleft

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47OMIM
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Clinical features from OMIM:

608874,600625,613705,608864

Drugs & Therapeutics for Orofacial Cleft

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Orofacial Cleft

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Orofacial Cleft:

33
Whole blood, Kidney, Heart, Endothelial

Animal Models for Orofacial Cleft or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Orofacial Cleft:

37 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.3IRF6, MSX1, BMP4
2MP:00053799.0AXIN2, BMP4, MSX1, TP63
3MP:00053808.9MSX1, BMP4, AXIN2, TP63
4MP:00053718.8TP63, IRF6, MSX1, BMP4, AXIN2
5MP:00053908.7AXIN2, BMP4, TP63, IRF6, MSX1
6MP:00028738.6TP63, SUMO1, AXIN2, BMP4
7MP:00107718.6BMP4, MSX1, PVRL1, IRF6, TP63
8MP:00053788.2PVRL1, BMP4, TP63, IRF6, MSX1
9MP:00053817.8SUMO1, IRF6, VAX1, MSX1, BMP4, TP63
10MP:00053917.8TP63, PVRL1, VAX1, MSX1, BMP4, AXIN2
11MP:00053847.7AXIN2, IRF6, BMP4, VAX1, TP63, SUMO1
12MP:00053826.9TP63, IRF6, SUMO1, VAX1, PVRL1, MSX1
13MP:00107686.8PVRL1, AXIN2, BMP4, MSX1, VAX1, IRF6

Publications for Orofacial Cleft

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52PubMed
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Articles related to Orofacial Cleft:

(show top 50)    (show all 97)
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
Pre-operative haematological investigations in paediatric orofacial cleft repair: any relevance to management outcome? (22382105)
2012
6
Extension of orofacial cleft size and gestational bleeding in early pregnancy. (23565843)
2012
7
Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts. (22419666)
2012
8
VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of a VAX1 phenotype in humans. (22095910)
2012
9
Significant evidence of association between polymorphisms in ZNF533, environmental factors, and nonsyndromic orofacial clefts in the Western Han Chinese population. (20849254)
2011
10
Whole blood propionylcarnitine in newborns with orofacial cleft. (21470367)
2011
11
Breakthroughs in the genetics of orofacial clefting. (21885341)
2011
12
A unique presentation of 22q13 deletion syndrome: multicystic kidney, orofacial clefting, and Wilms' tumor. (20827177)
2011
13
Polymorphic variants of genes related to arginine metabolism and the risk of orofacial clefts. (20739017)
2010
14
IRF6 polymorphisms are associated with nonsyndromic orofacial clefts in a Chinese Han population. (20799332)
2010
15
Lack of association of polymorphic variants of genes encoding zinc transporters with the risk of orofacial cleft-affected pregnancies. (21478106)
2010
16
Association among polymorphisms at MYH9, environmental factors, and nonsyndromic orofacial clefts in western China. (19891592)
2010
17
New insights in collagen turnover in orofacial cleft patients. (20590460)
2010
18
The 18q deletion syndrome and analysis of the critical region for orofacial cleft at 18q22.3. (19157891)
2009
19
Midline orofacial cleft defects in association with type 1 Duane's retraction syndrome. (18691219)
2009
20
The MSX1 allele 4 homozygous child exposed to smoking at periconception is most sensitive in developing nonsyndromic orofacial clefts. (18932005)
2008
21
Does lamotrigine use in pregnancy increase orofacial cleft risk relative to other malformations? (18650491)
2008
22
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
23
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
24
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
25
Maternal smoking during early pregnancy, GSTP1 and EPHX1 variants, and risk of isolated orofacial clefts. (17608547)
2007
26
Hyperhomocysteinemia and MTHFR polymorphisms in association with orofacial clefts and congenital heart defects: a meta-analysis. (17431894)
2007
27
Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants. (17160896)
2007
28
MSX1 and orofacial clefting with and without tooth agenesis. (16723652)
2006
29
Maternal smoking, genetic variation of glutathione s-transferases, and risk for orofacial clefts. (16135950)
2005
30
Are the betaine-homocysteine methyltransferase (BHMT and BHMT2) genes risk factors for spina bifida and orofacial clefts? (15887275)
2005
31
Endothelial nitric oxide synthase (NOS3) genetic variants, maternal smoking, vitamin use, and risk of human orofacial clefts. (16269583)
2005
32
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
33
Recent developments in orofacial cleft genetics. (12621282)
2003
34
Variants of developmental genes (TGFA, TGFB3, and MSX1) and their associations with orofacial clefts: a case-parent triad analysis. (12652527)
2003
35
Amniotic band syndrome with significant orofacial clefts and disruptions and distortions of craniofacial structures. (12677585)
2003
36
Orofacial cleft in Southern Italy. (14765027)
2003
37
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
38
Orofacial clefts and spina bifida: N-acetyltransferase phenotype, maternal smoking, and medication use. (12397635)
2002
39
Report of a child with aortic aneurysm, orofacial clefting, hemangioma, upper sternal defect, and marfanoid features: possible PHACE syndrome. (12116239)
2002
40
Coxsackie viral infection and orofacial cleft. (12583506)
2002
41
Linkage analysis of candidate endothelin pathway genes in nonsyndromic familial orofacial cleft. (11415518)
2000
42
MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. (10742093)
2000
43
Severe acrofacial dysostosis with orofacial clefting and tetraphocomelia diagnosed in the plaster cast of a 100-year-old anatomical specimen. (9674917)
1998
44
Suggestive linkage between markers on chromosome 19q13.2 and nonsyndromic orofacial cleft malformation. (9722939)
1998
45
Maternal alcohol use and risk of orofacial cleft birth defects. (8916367)
1996
46
Suggestion of linkage of a major locus for nonsyndromic orofacial cleft with F13A and tentative assignment to chromosome 6. (2888553)
1987
47
Incidence of sensory integrative dysfunction among children with orofacial cleft. (7223831)
1981
48
The incidence of sensory integrative dysfunction among children with orofacial cleft. (7267664)
1980
49
The incidence of sensory integrative dysfunction among children with orofacial cleft: a critique. (7267665)
1980
50
Seizure disorder in mothers of children with orofacial clefts: a case-control study. (4810733)
1974

Variations for Orofacial Cleft

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Expression for genes affiliated with Orofacial Cleft

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2BioGPS, 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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50PathCards, 55Reactome, 38NCBI BioSystems Database, 5Cell Signaling Technology, 30KEGG
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Pathways related to Orofacial Cleft according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Apoptosis Modulation and Signaling38
Apoptosis38
9.8TP63, IRF6
29.6AXIN2, MSX1
3
Show member pathways
9.6AXIN2, BMP4
4
Show member pathways
9.5SUMO1, TP63
59.2AXIN2, BMP4, MSX1

Compounds for genes affiliated with Orofacial Cleft

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45Novoseek, 29IUPHAR, 61Tocris Bioscience, 24HMDB, 11DrugBank
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Compounds related to Orofacial Cleft according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1steroid459.1BMP4, SUMO1, TP63
2progesterone45 29 61 24 1112.8TP63, SUMO1, BMP4
3retinoic acid45 249.6BMP4, MSX1, SUMO1, TP63

GO Terms for genes affiliated with Orofacial Cleft

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16Gene Ontology
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Cellular components related to Orofacial Cleft according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1synapseGO:0452029.3PVRL1, SUMO1
2nucleusGO:0056347.2AXIN2, MSX1, VAX1, IRF6, SUMO1, TP63

Biological processes related to Orofacial Cleft according to GeneCards/GeneDecks:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1keratinocyte proliferationGO:04361610.1TP63, IRF6
2cloacal septationGO:06019710.1BMP4, TP63
3smooth muscle tissue developmentGO:04874510.0TP63, BMP4
4keratinocyte differentiationGO:03021610.0IRF6, TP63
5positive regulation of BMP signaling pathwayGO:0305139.9BMP4, MSX1
6protein localization to nucleusGO:0345049.9MSX1, BMP4
7pituitary gland developmentGO:0219839.9BMP4, MSX1
8positive regulation of cell deathGO:0109429.9AXIN2, BMP4
9embryonic hindlimb morphogenesisGO:0351169.9MSX1, BMP4
10positive regulation of osteoblast differentiationGO:0456699.8BMP4, TP63
11odontogenesisGO:0424769.8AXIN2, BMP4
12odontogenesis of dentin-containing toothGO:0424759.7BMP4, MSX1, TP63
13positive regulation of protein phosphorylationGO:0019349.6AXIN2, BMP4
14interferon-gamma-mediated signaling pathwayGO:0603339.6SUMO1, IRF6
15negative regulation of apoptotic processGO:0430669.2TP63, MSX1, BMP4
16negative regulation of cell proliferationGO:0082859.2AXIN2, BMP4, MSX1, IRF6
17positive regulation of transcription, DNA-templatedGO:0458939.1BMP4, IRF6, TP63
18negative regulation of transcription, DNA-templatedGO:0458929.1BMP4, SUMO1, TP63
19palate developmentGO:0600219.0SUMO1, VAX1, MSX1
20negative regulation of transcription from RNA polymerase II promoterGO:0001228.8TP63, VAX1, MSX1, BMP4

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

idNameGO IDScoreTop Affiliating Genes
1p53 bindingGO:0020399.8MSX1, TP63
2protein bindingGO:0055157.0AXIN2, OFCC1, BMP4, PVRL1, IRF6, SUMO1

Products for genes affiliated with Orofacial Cleft

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Sources for Orofacial Cleft

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet