MCID: ORF002
MIFTS: 38

Orofacial Cleft malady

Genetic diseases (common) category

Aliases & Classifications for Orofacial Cleft

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Orofacial Cleft, Aliases & Descriptions:

Name: Orofacial Cleft 9 22


Classifications:

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


External Ids:

Disease Ontology9 DOID:0050567

Summaries for Orofacial Cleft

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MalaCards based summary: 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, heart and kidney, and related mouse phenotypes are hearing/vestibular/ear and endocrine/exocrine gland.

Related Diseases for Orofacial Cleft

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Diseases in the Orofacial Cleft family:

Orofacial Cleft 13 Orofacial Cleft 14
Orofacial Cleft 6 Orofacial Cleft 10
Orofacial Cleft 5 Orofacial Cleft 4
Orofacial Cleft 12 Orofacial Cleft 9
Orofacial Cleft 11

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

(show all 43)
idRelated DiseaseScoreTop Affiliating Genes
1tooth agenesis30.8MSX1, IRF6
2cleft lip29.8BMP4, MSX1, PVRL1, IRF6, TP63
3orofacial cleft 510.5
4orofacial cleft 610.5
5orofacial cleft 1110.5
6orofacial cleft 1310.4
7neural tube defects10.4
8orofacial cleft 1010.4
9orofacial cleft 410.4
10orofacial cleft 1210.4
11orofacial cleft 910.4
12rapp-hodgkin syndrome10.4
13tooth agenesis, selective, 1, with or without orofacial cleft10.4
14orofacial cleft 1410.3
15ectodermal dysplasia10.3TP63
16anophthalmia/microphthalmia10.3VAX1
17cleft lip/palate-ectodermal dysplasia syndrome10.2
18synostosis10.1BMP4, MSX1
19split-hand/foot malformation 510.1
20split-hand/foot malformation 410.1
21attention deficit-hyperactivity disorder10.1
22split-hand/foot malformation 610.1
23facial clefting, oblique, 110.1
24van der woude syndrome10.1
25wilms tumor10.1
26hemangioma10.1
27holoprosencephaly10.1
28hyperhomocysteinemia10.1
29microphthalmia10.1
30aortic aneurysm10.1
31cholesteatoma10.1
32dysostosis10.1
33learning disability10.1
34amniotic band syndrome10.1
35eec syndrome10.1
36phace syndrome10.1
37aneurysm10.1
38seizure disorder10.1
39endotheliitis10.1
40polydactyly10.0MSX1, BMP4
41adenoma9.9AXIN2, BMP4, TP63
42viral infectious disease9.6PVRL1, IRF6, SUMO1
43cleft palate, isolated9.6TP63, 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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Drugs & Therapeutics for Orofacial Cleft

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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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Genetic tests related to Orofacial Cleft:

id Genetic test Affiliating Genes
1 Orofacial Cleft22

Anatomical Context for Orofacial Cleft

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MalaCards organs/tissues related to Orofacial Cleft:

31
Whole blood, Heart, Kidney, Endothelial

Animal Models for Orofacial Cleft or affiliated genes

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MGI Mouse Phenotypes related to Orofacial Cleft:

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

Publications for Orofacial Cleft

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Articles related to Orofacial Cleft:

(show top 50)    (show all 114)
idTitleAuthorsYear
1
Weight Gain Pattern of Infants with Orofacial Cleft on Three Types of Feeding Techniques. (25650232)
2015
2
Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability. (24678003)
2014
3
Socioeconomic influence on orofacial cleft patient care. (25504476)
2014
4
MicroRNA-17-92, a direct Ap-2I+ transcriptional target, modulates T-box factor activity in orofacial clefting. (24068957)
2013
5
A mutation in mouse Pak1ip1 causes orofacial clefting while human PAK1IP1 maps to 6p24 translocation breaking points associated with orofacial clefting. (23935987)
2013
6
Orbital Prosthetic Rehabilitation in "ADAM Complex" Multiple Orofacial-Cleft Disruption Syndrome. (23762737)
2013
7
Early Mother-Child Interaction and Later Quality of Attachment in Infants With an Orofacial Cleft Compared to Infants Without Cleft. (23611443)
2013
8
Early mother-child interaction and later quality of attachment in infants with an orofacial cleft compared to infants without cleft. (24218985)
2013
9
Pre-operative haematological investigations in paediatric orofacial cleft repair: any relevance to management outcome? (22382105)
2012
10
Van der Woude syndrome- a syndromic form of orofacial clefting. (24558537)
2012
11
Extension of orofacial cleft size and gestational bleeding in early pregnancy. (23565843)
2012
12
Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts. (22419666)
2012
13
VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of a VAX1 phenotype in humans. (22095910)
2012
14
Significant evidence of association between polymorphisms in ZNF533, environmental factors, and nonsyndromic orofacial clefts in the Western Han Chinese population. (20849254)
2011
15
Whole blood propionylcarnitine in newborns with orofacial cleft. (21470367)
2011
16
Breakthroughs in the genetics of orofacial clefting. (21885341)
2011
17
A unique presentation of 22q13 deletion syndrome: multicystic kidney, orofacial clefting, and Wilms' tumor. (20827177)
2011
18
Polymorphic variants of genes related to arginine metabolism and the risk of orofacial clefts. (20739017)
2010
19
IRF6 polymorphisms are associated with nonsyndromic orofacial clefts in a Chinese Han population. (20799332)
2010
20
Lack of association of polymorphic variants of genes encoding zinc transporters with the risk of orofacial cleft-affected pregnancies. (21478106)
2010
21
Association among polymorphisms at MYH9, environmental factors, and nonsyndromic orofacial clefts in western China. (19891592)
2010
22
New insights in collagen turnover in orofacial cleft patients. (20590460)
2010
23
The 18q deletion syndrome and analysis of the critical region for orofacial cleft at 18q22.3. (19157891)
2009
24
Midline orofacial cleft defects in association with type 1 Duane's retraction syndrome. (18691219)
2009
25
The MSX1 allele 4 homozygous child exposed to smoking at periconception is most sensitive in developing nonsyndromic orofacial clefts. (18932005)
2008
26
Does lamotrigine use in pregnancy increase orofacial cleft risk relative to other malformations? (18650491)
2008
27
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
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
Maternal smoking during early pregnancy, GSTP1 and EPHX1 variants, and risk of isolated orofacial clefts. (17608547)
2007
30
Hyperhomocysteinemia and MTHFR polymorphisms in association with orofacial clefts and congenital heart defects: a meta-analysis. (17431894)
2007
31
Maternal smoking, genetic variation of glutathione s-transferases, and risk for orofacial clefts. (16135950)
2005
32
Are the betaine-homocysteine methyltransferase (BHMT and BHMT2) genes risk factors for spina bifida and orofacial clefts? (15887275)
2005
33
Endothelial nitric oxide synthase (NOS3) genetic variants, maternal smoking, vitamin use, and risk of human orofacial clefts. (16269583)
2005
34
Recent developments in orofacial cleft genetics. (12621282)
2003
35
Variants of developmental genes (TGFA, TGFB3, and MSX1) and their associations with orofacial clefts: a case-parent triad analysis. (12652527)
2003
36
Amniotic band syndrome with significant orofacial clefts and disruptions and distortions of craniofacial structures. (12677585)
2003
37
Orofacial cleft in Southern Italy. (14765027)
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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Search GEO for disease gene expression data for Orofacial Cleft.

Pathways for genes affiliated with Orofacial Cleft

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Pathways related to Orofacial Cleft according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Apoptosis Modulation and Signaling36
Apoptosis36
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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Sources:
43Novoseek, 28IUPHAR, 59Tocris Bioscience, 24HMDB, 12DrugBank
See all sources

Compounds related to Orofacial Cleft according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1steroid439.1BMP4, SUMO1, TP63
2progesterone43 28 59 24 1212.8TP63, SUMO1, BMP4
3retinoic acid43 249.6BMP4, MSX1, SUMO1, TP63

GO Terms for genes affiliated with Orofacial Cleft

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Cellular components related to Orofacial Cleft according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1synapseGO:00452029.3PVRL1, SUMO1
2nucleusGO:00056347.2AXIN2, MSX1, VAX1, IRF6, SUMO1, TP63

Biological processes related to Orofacial Cleft according to GeneCards Suite gene sharing:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1keratinocyte proliferationGO:004361610.1TP63, IRF6
2cloacal septationGO:006019710.1BMP4, TP63
3smooth muscle tissue developmentGO:004874510.0TP63, BMP4
4keratinocyte differentiationGO:003021610.0IRF6, TP63
5positive regulation of BMP signaling pathwayGO:00305139.9BMP4, MSX1
6protein localization to nucleusGO:00345049.9MSX1, BMP4
7pituitary gland developmentGO:00219839.9BMP4, MSX1
8positive regulation of cell deathGO:00109429.9AXIN2, BMP4
9embryonic hindlimb morphogenesisGO:00351169.9MSX1, BMP4
10positive regulation of osteoblast differentiationGO:00456699.8BMP4, TP63
11odontogenesisGO:00424769.8AXIN2, BMP4
12odontogenesis of dentin-containing toothGO:00424759.7BMP4, MSX1, TP63
13positive regulation of protein phosphorylationGO:00019349.6AXIN2, BMP4
14interferon-gamma-mediated signaling pathwayGO:00603339.6SUMO1, IRF6
15negative regulation of apoptotic processGO:00430669.2TP63, MSX1, BMP4
16negative regulation of cell proliferationGO:00082859.2AXIN2, BMP4, MSX1, IRF6
17positive regulation of transcription, DNA-templatedGO:00458939.1BMP4, IRF6, TP63
18negative regulation of transcription, DNA-templatedGO:00458929.1BMP4, SUMO1, TP63
19palate developmentGO:00600219.0SUMO1, VAX1, MSX1
20negative regulation of transcription from RNA polymerase II promoterGO:00001228.8TP63, VAX1, MSX1, BMP4

Molecular functions related to Orofacial Cleft according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1p53 bindingGO:00020399.8MSX1, TP63
2protein bindingGO:00055157.0AXIN2, OFCC1, BMP4, PVRL1, IRF6, SUMO1

Products for genes affiliated with Orofacial Cleft

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Sources for Orofacial Cleft

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet