MCID: ORF002
MIFTS: 41

Orofacial Cleft malady

Summaries for Orofacial Cleft

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 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 palate. 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. Related mouse phenotypes are limbs/digits/tail and craniofacial.

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

Aliases & Classifications for Orofacial Cleft

Sources:
8Disease Ontology, 22GTR, 47OMIM
See all sources

Aliases & Descriptions:

orofacial cleft 8 22


External Ids:

Disease Ontology8 DOID:0050567

Related Diseases for Orofacial Cleft

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Orofacial Cleft family:

orofacial cleft 5 orofacial cleft 6, susceptibility to
orofacial cleft 8 orofacial cleft 13
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 44)
idRelated DiseaseScoreTop Affiliating Genes
1tooth agenesis30.4MSX1, AXIN2, BMP4, IRF6
2cleft palate30.0MSX1, BHMT2, GABRB3, BMP4, IRF6, PVRL1
3neural tube defects10.4
4orofacial cleft 510.4
5orofacial cleft-110.4
6orofacial cleft 6, susceptibility to10.4
7orofacial cleft 810.4
8spina bifida10.3
9orofacial cleft1110.3
10orofacial cleft-210.3
11orofacial cleft 410.3
12orofacial cleft 1210.3
13orofacial cleft 710.3
14orofacial cleft 910.3
15orofacial cleft1010.2
16orofacial cleft 1310.2
17tooth agenesis, selective, 1, with or without orofacial cleft10.2
18orofacial cleft-310.2
19marfan syndrome10.1
20hyperhomocysteinemia10.1
21microphthalmia10.1
22duane retraction syndrome10.1
23holoprosencephaly10.1
24aortic aneurysm10.1
25wilms tumor10.1
26amniotic band syndrome10.1
27corpus callosum agenesis10.1
28limb deficiencies distal with micrognathia10.1
29sternal cleft10.1
30kid syndrome10.1
31phace syndrome10.1
32split-hand/foot malformation, type 410.1
33seizure disorder10.1
34holoprosencephaly-310.1
35wilms tumor 210.1
36holoprosencephaly 1110.1
37split-hand/foot malformation 610.1
38holoprosencephaly-110.1
39facial clefting, oblique, 110.1
40orofaciodigital syndrome type 1410.1
41anophthalmia/microphthalmia10.0VAX1
42ectodermal dysplasia10.0TP63
43cleft lip10.0PVRL1, IRF6, BMP4, GABRB3, BHMT2, MSX1
44adult syndrome10.0TP63

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



Diseases related to orofacial cleft

Clinical Features for Orofacial Cleft

Sources:
47OMIM
See all sources

Clinical features from OMIM:

608874,600625,608864,613705

Drugs & Therapeutics for Orofacial Cleft

Sources:
5CenterWatch, 42NIH 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

Sources:
22GTR
See all sources

Genetic tests related to Orofacial Cleft:

id Genetic test Affiliating Genes
1 Orofacial Cleft22

Anatomical Context for Orofacial Cleft

Animal Models for Orofacial Cleft or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Orofacial Cleft:

37
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

Sources:
51PubMed
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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. (24218985)
2013
3
Patterns of tooth agenesis in patients with orofacial clefts. (23841784)
2013
4
Mesenchymal stem cells - a promising perspective in the orofacial cleft surgery. (23331197)
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
Genetics and management of the patient with orofacial cleft. (23213504)
2012
9
Different roles of two novel susceptibility loci for nonsyndromic orofacial clefts in a Chinese Han population. (21834038)
2011
10
Interactions between small ubiquitin-like modifier 1 and nonsyndromic orofacial clefts. (21189065)
2011
11
Replication of two novel susceptibility loci for non-syndromic orofacial clefts in a Chinese population. (20860768)
2011
12
Methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and nonsyndromic orofacial clefts susceptibility in a southern Chinese population. (21612398)
2011
13
IRF6 polymorphisms are associated with nonsyndromic orofacial clefts in a Chinese Han population. (20799332)
2010
14
New insights in collagen turnover in orofacial cleft patients. (20590460)
2010
15
Chromosomal abnormalities in finnish orofacial cleft patients: excess of submucous cleft patients? (20163256)
2010
16
The maternal homocysteine pathway is influenced by riboflavin intake and MTHFR polymorphisms without affecting the risk of orofacial clefts in the offspring. (19935819)
2010
17
Interdisciplinary craniofacial teams compared with individual providers: is orofacial cleft care more comprehensive and do parents perceive better outcomes? (20078199)
2010
18
The 18q deletion syndrome and analysis of the critical region for orofacial cleft at 18q22.3. (19157891)
2009
19
Relation between the concentration of zinc in maternal whole blood and the risk of an infant being born with an orofacial cleft. (19586695)
2009
20
AXIS inhibition protein 2, orofacial clefts and a family history of cancer. (19119171)
2009
21
Association among IRF6 polymorphism, environmental factors, and nonsyndromic orofacial clefts in western china. (19388848)
2009
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
Maternal smoking during early pregnancy, GSTP1 and EPHX1 variants, and risk of isolated orofacial clefts. (17608547)
2007
24
Hyperhomocysteinemia and MTHFR polymorphisms in association with orofacial clefts and congenital heart defects: a meta-analysis. (17431894)
2007
25
Orofacial clefting: update on the role of genetics. (17366841)
2006
26
Are the betaine-homocysteine methyltransferase (BHMT and BHMT2) genes risk factors for spina bifida and orofacial clefts? (15887275)
2005
27
Endothelial nitric oxide synthase (NOS3) genetic variants, maternal smoking, vitamin use, and risk of human orofacial clefts. (16269583)
2005
28
Polymorphisms in DNA repair genes as risk factors for spina bifida and orofacial clefts. (15887293)
2005
29
Maternal dietary B vitamin intake, other than folate, and the association with orofacial cleft in the offspring. (14991264)
2004
30
Recent developments in orofacial cleft genetics. (12621282)
2003
31
Variants of developmental genes (TGFA, TGFB3, and MSX1) and their associations with orofacial clefts: a case-parent triad analysis. (12652527)
2003
32
Amniotic band syndrome with significant orofacial clefts and disruptions and distortions of craniofacial structures. (12677585)
2003
33
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
34
Report of a child with aortic aneurysm, orofacial clefting, hemangioma, upper sternal defect, and marfanoid features: possible PHACE syndrome. (12116239)
2002
35
Coxsackie viral infection and orofacial cleft. (12583506)
2002
36
Aryl hydrocarbon receptor nuclear translocator 2 (ARNT2): structure, gene mapping, polymorphisms, and candidate evaluation for human orofacial clefts. (12210012)
2002
37
Natural history of 70 fetuses with a prenatally diagnosed orofacial cleft. (12065955)
2002
38
Linkage analysis of candidate endothelin pathway genes in nonsyndromic familial orofacial cleft. (11415518)
2000
39
MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. (10742093)
2000
40
Combined segregation and linkage analysis of nonsyndromic orofacial cleft in two candidate regions. (10738518)
1999
41
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
42
Suggestive linkage between markers on chromosome 19q13.2 and nonsyndromic orofacial cleft malformation. (9722939)
1998
43
Examine your orofacial cleft patients for Gorlin-Goltz syndrome. (9257026)
1997
44
Maternal alcohol use and risk of orofacial cleft birth defects. (8916367)
1996
45
Possible teratogenic potential of certain virus infections as related to patients with orofacial cleft. (1681721)
1991
46
Suggestion of linkage of a major locus for nonsyndromic orofacial cleft with F13A and tentative assignment to chromosome 6. (2888553)
1987
47
Late definitive correction of the orofacial cleft. Report of a case. (6576634)
1983
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

Genetic Variations for Orofacial Cleft

Expression for genes affiliated with Orofacial Cleft

Sources:
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

Sources:
38NCBI BioSystems Database
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Pathways related to Orofacial Cleft according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.4SUMO1, TP63
210.4AXIN2, BMP4, MSX1
310.4BHMT, BHMT2
4
Hide members
10.4BHMT2, BHMT
510.4BHMT2, BHMT

Compounds for genes affiliated with Orofacial Cleft

Sources:
45Novoseek, 24HMDB, 29IUPHAR, 11DrugBank
See all sources

Compounds related to Orofacial Cleft according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1betaine45 2411.5BHMT2, BHMT, CHDH
2n1-acetylspermine45 2411.5CHDH, BHMT, BHMT2
3putrescine45 29 11 2413.4BHMT2, BHMT, CHDH
4dimethylglycine45 2411.4BHMT, BHMT2
5L-Methionine11 2411.4BHMT2, BHMT
6spermidine45 29 11 2413.3BHMT2, BHMT, CHDH
7spermine45 29 11 2413.1BHMT2, BHMT, CHDH

GO Terms for genes affiliated with Orofacial Cleft

Sources:
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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Sources for Orofacial Cleft

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet