MCID: ORF002
MIFTS: 40

Orofacial Cleft

Categories: Fetal diseases, Rare diseases, Genetic diseases, Oral diseases

Aliases & Classifications for Orofacial Cleft

MalaCards integrated aliases for Orofacial Cleft:

Name: Orofacial Cleft 12 29 14

Classifications:



External Ids:

Disease Ontology 12 DOID:0050567

Summaries for Orofacial Cleft

MalaCards based summary : Orofacial Cleft is related to split-hand/foot malformation 4 and orofacial cleft 10. An important gene associated with Orofacial Cleft is IRF6 (Interferon Regulatory Factor 6), and among its related pathways/superpathways are Fluid shear stress and atherosclerosis and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Hydroxocobalamin and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include whole blood, endothelial and heart, and related phenotypes are cardiovascular system and craniofacial

Related Diseases for Orofacial Cleft

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 Orofacial Cleft 15

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

(show top 50) (show all 70)
id Related Disease Score Top Affiliating Genes
1 split-hand/foot malformation 4 31.9 SATB2 TP63
2 orofacial cleft 10 12.2
3 orofacial cleft 5 12.2
4 orofacial cleft 6 12.2
5 orofacial cleft 11 12.2
6 tooth agenesis, selective, 1, with or without orofacial cleft 12.2
7 orofacial cleft 15 12.2
8 orofacial cleft 4 11.9
9 orofacial cleft 12 11.9
10 orofacial cleft 13 11.9
11 orofacial cleft 9 11.9
12 orofacial cleft 14 11.9
13 rapp-hodgkin syndrome 11.7
14 cleft lip/palate-ectodermal dysplasia syndrome 11.6
15 cleft lip +/- cleft palate 11.5
16 eec syndrome 11.2
17 split-hand/foot malformation 3 11.0
18 split-hand/foot malformation 6 11.0
19 microphthalmia, syndromic 11 10.9
20 microphthalmia, syndromic 6 10.9
21 cleft palate, isolated 10.8
22 facial clefting, oblique, 1 10.8
23 hemifacial microsomia with radial defects 10.8
24 split-hand/foot malformation 1 with sensorineural hearing loss 10.8
25 split hand-foot malformation 10.8
26 split-hand/foot malformation 5 10.8
27 nasopharyngeal teratoma 10.4 IRF6 MSX1 NECTIN1 TP63
28 basedow's coma 10.1 CYP1A1 GSTT1
29 cleft lip 10.1
30 neural tube defects 10.1
31 tooth agenesis 10.0
32 hypomyelinating leukodystrophy 10.0 SATB2 TP63
33 achalasia 9.9 MSX1 SHOX2 TMEM54
34 gastroschisis 9.8
35 asbestos intoxication 9.8 FOXE1 GSTT1 IRF6 MSX1 NECTIN1 TP63
36 popliteal pterygium syndrome 1 9.7 IRF6 NHLH1 SATB2
37 orbital disease 9.7 BMP4 DLX4 IRF6 MSX1 NECTIN1 SUMO1
38 hay-wells syndrome 9.7 NHLH1 SATB2 TP63
39 dental caries 9.7
40 endotheliitis 9.7
41 obesity 9.7
42 aortic aneurysm 9.7
43 cholesteatoma 9.7
44 learning disability 9.7
45 hyperhomocysteinemia 9.7
46 attention deficit-hyperactivity disorder 9.7
47 hemangioma 9.7
48 birth defects 9.7
49 holoprosencephaly 9.7
50 amniotic band syndrome 9.7

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



Diseases related to Orofacial Cleft

Symptoms & Phenotypes for Orofacial Cleft

MGI Mouse Phenotypes related to Orofacial Cleft:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.02 ABCA4 BMP4 CYP1A1 MSX1 MYH9 NHLH1
2 craniofacial MP:0005382 10.02 BMP4 FOXE1 IRF6 MSX1 NECTIN1 OFCC1
3 growth/size/body region MP:0005378 9.9 BMP4 CYP1A1 FOXE1 IRF6 MSX1 MYH9
4 digestive/alimentary MP:0005381 9.86 BMP4 FOXE1 IRF6 MSX1 SATB2 SHOX2
5 limbs/digits/tail MP:0005371 9.43 BMP4 IRF6 MSX1 SATB2 SHOX2 TP63
6 mortality/aging MP:0010768 9.4 SHOX2 SUMO1 TP63 BMP4 CYP1A1 FOXE1

Drugs & Therapeutics for Orofacial Cleft

Drugs for Orofacial Cleft (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxocobalamin Approved 13422-51-0 11953898 5460373 44475014
2
Ethanol Approved 64-17-5 702
3
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
4
leucovorin Approved, Nutraceutical 58-05-9 143 6006
5
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
6 Vitamin B Complex
7 Vitamin B 12
8 Vitamins
9 Folate Nutraceutical
10 Vitamin B9 Nutraceutical
11
Cobalamin Nutraceutical 13408-78-1 6438156
12
Methylcobalamin Experimental, Nutraceutical 13422-55-4
13 Vitamin B12 Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Genetic Analysis of Neural Tube and Orofacial Cleft Defects in the Irish Population Completed NCT00341068
2 Influence of Genetics on Vitamin Metabolism in Pregnant Women Completed NCT00340366
3 Identification of Genetic Factors Implicated in Orofacial Cleft Using Whole Exome Sequencing Recruiting NCT03065686
4 Pregnancy Environment and Newborn Malformations Recruiting NCT01613638

Search NIH Clinical Center for Orofacial Cleft

Genetic Tests for Orofacial Cleft

Genetic tests related to Orofacial Cleft:

id Genetic test Affiliating Genes
1 Orofacial Cleft 29

Anatomical Context for Orofacial Cleft

MalaCards organs/tissues related to Orofacial Cleft:

39
Whole Blood, Endothelial, Heart, Kidney

Publications for Orofacial Cleft

Articles related to Orofacial Cleft:

(show top 50) (show all 158)
id Title Authors Year
1
Association between PAX7 and NTN1 gene polymorphisms and nonsyndromic orofacial clefts in a northern Chinese population. ( 28489749 )
2017
2
Distinct DNA methylation profiles in subtypes of orofacial cleft. ( 28603561 )
2017
3
Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing. ( 27834299 )
2017
4
Imputation of Orofacial Clefting Data Identifies Novel Risk Loci and Sheds Light on the Genetic Background of Cleft Lip A+ Cleft Palate and Cleft Palate Only. ( 28087736 )
2017
5
Validity and reliability of the COHIP-SF in Australian children with orofacial cleft. ( 28833655 )
2017
6
Are people with an orofacial cleft at a higher risk of dental caries? A systematic review and meta-analysis. ( 28684841 )
2017
7
New insights in orofacial cleft: epidemiological and genetic studies on italian samples. ( 28757931 )
2017
8
Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. ( 28054174 )
2017
9
Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice. ( 28081210 )
2017
10
Prenatal Treatment with Dexamethasone in Suspected Congenital Adrenal Hyperplasia and Orofacial Cleft: a Case Report and Review of the Literature. ( 28845624 )
2017
11
Lamotrigine use in pregnancy and risk of orofacial cleft and other congenital anomalies. ( 27053714 )
2016
12
Three-dimensional evaluation of surgical techniques in neonates with orofacial cleft. ( 28299266 )
2016
13
FOXE1 polymorphisms and non-syndromic orofacial cleft susceptibility in a Chinese Han population. ( 26728781 )
2016
14
Correction: Prevalence of Gastroschisis, Omphalocele, Spina Bifida and Orofacial Clefts of Neonates from January 2000 to December 2010 in Leipzig, Saxony, Saxony-Anhalt and Germany. ( 27533496 )
2016
15
Maternal biomarkers of methylation status and non-syndromic orofacial cleft risk: a meta-analysis. ( 27364370 )
2016
16
Maternal underweight and obesity and risk of orofacial clefts in a large international consortium of population-based studies. ( 27215617 )
2016
17
TPM1 polymorphisms and nonsyndromic orofacial clefts susceptibility in a Chinese Han population. ( 26792422 )
2016
18
Nucleotide Variants of the BH4 Biosynthesis Pathway Gene GCH1 and the Risk of Orofacial Clefts. ( 26215833 )
2016
19
Tooth agenesis and orofacial clefting: genetic brothers in arms? ( 27699475 )
2016
20
Can we predict orofacial cleft in future pregnancy? ( 27546542 )
2016
21
The incidence of Orofacial Cleft in live births in New Zealand. ( 27538040 )
2016
22
IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families. ( 26346622 )
2016
23
Lack of Association between Missense Variants in GRHL3 (rs2486668 and rs545809) and Susceptibility to Non-Syndromic Orofacial Clefts in a Han Chinese Population. ( 27459192 )
2016
24
Associations between microRNA binding site SNPs in FGFs and FGFRs and the risk of non-syndromic orofacial cleft. ( 27511275 )
2016
25
Folic acid fortification and prevalences of neural tube defects, orofacial clefts, and gastroschisis in California, 1989 to 2010. ( 27191125 )
2016
26
Nonsynonymous variants in MYH9 and ABCA4 are the most frequent risk loci associated with nonsyndromic orofacial cleft in Taiwanese population. ( 27527345 )
2016
27
Parental cigarette smoking, transforming growth factor-alpha gene variant and the risk of orofacial cleft in Iranian infants. ( 27279979 )
2016
28
Association of JARID2 polymorphisms with non-syndromic orofacial clefts in northern Chinese Han population. ( 25155265 )
2015
29
Evaluation of the association of polymorphisms in EYA1, environmental factors, and non-syndromic orofacial clefts in Western Han Chinese. ( 25640282 )
2015
30
DLX4 is associated with orofacial clefting and abnormal jaw development. ( 25954033 )
2015
31
BMP7 Gene involved in nonsyndromic orofacial clefts in Western Han Chinese. ( 25662552 )
2015
32
Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts. ( 26561393 )
2015
33
The accuracy of prenatal ultrasound in determining the type of orofacial cleft. ( 25721357 )
2015
34
Birth prevalence of neural tube defects and orofacial clefts in India: a systematic review and meta-analysis. ( 25768737 )
2015
35
Visualization of the fetal lips and palate using a surface rendered oro-palatal (SROP) view in fetuses with normal palate or orofacial cleft lip with or without cleft palate (CLA+P). ( 26180023 )
2015
36
MTHFD1 gene polymorphisms as risk factors involved in orofacial cleft: an independent case-control study and a meta-analysis. ( 26221324 )
2015
37
Weight Gain Pattern of Infants with Orofacial Cleft on Three Types of Feeding Techniques. ( 25650232 )
2015
38
Maternal Supplementary Folate Intake, Methylenetetrahydrofolate Reductase (MTHFR) C677T and A1298C Polymorphisms and the Risk of Orofacial Cleft in Iranian Children. ( 26140186 )
2015
39
Subphenotyping and Classification of Orofacial Clefts: Need for Orofacial Cleft Subphenotyping Calls for Revised Classification. ( 26171570 )
2015
40
Association between FOXE1 and non-syndromic orofacial clefts in a northeastern Chinese population. ( 26100861 )
2015
41
Psychotropic drug use in adolescents born with an orofacial cleft: a population-based study. ( 25838502 )
2015
42
The role of the folic acid to the prevention of orofacial cleft: an epidemiological study. ( 24828118 )
2014
43
The axis inhibition protein 2 polymorphisms and non-syndromic orofacial clefts susceptibility in a Chinese Han population. ( 24484320 )
2014
44
Strong association of variants around FOXE1 and orofacial clefting. ( 24563486 )
2014
45
Cholesteatoma risk in 8,593 orofacial cleft cases and 6,989 siblings: A nationwide study. ( 25388367 )
2014
46
Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability. ( 24678003 )
2014
47
Contribution of transforming growth factor I+ polymorphisms to nonsyndromic orofacial clefts: a HuGE review and meta-analysis. ( 24243742 )
2014
48
Symptoms of Attention-Deficit Hyperactivity Disorder, Nonsyndromic Orofacial Cleft Children, and Dopamine Polymorphisms: A Pilot Study. ( 25271118 )
2014
49
Socioeconomic influence on orofacial cleft patient care. ( 25504476 )
2014
50
The status of orofacial cleft care in Ghana. ( 24603915 )
2014

Variations for Orofacial Cleft

Expression for Orofacial Cleft

Search GEO for disease gene expression data for Orofacial Cleft.

Pathways for Orofacial Cleft

GO Terms for Orofacial Cleft

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

(show all 22)
id Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.98 BMP4 DLX4 MSX1 NHLH1 SATB2 SHOX2
2 negative regulation of transcription, DNA-templated GO:0045892 9.93 BMP4 FOXE1 MSX1 SUMO1 TP63
3 transcription from RNA polymerase II promoter GO:0006366 9.88 MSX1 NHLH1 SATB2 TP63
4 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.88 BMP4 MSX1 NHLH1 SATB2 SHOX2 TP63
5 cartilage development GO:0051216 9.63 BMP4 MSX1 SATB2
6 hair follicle morphogenesis GO:0031069 9.61 FOXE1 TP63
7 camera-type eye morphogenesis GO:0048593 9.6 BMP4 NECTIN1
8 developmental process GO:0032502 9.59 CYP1A1 TP63
9 anatomical structure formation involved in morphogenesis GO:0048646 9.57 BMP4 TP63
10 monocyte differentiation GO:0030224 9.56 BMP4 MYH9
11 embryonic morphogenesis GO:0048598 9.55 BMP4 SHOX2
12 odontogenesis of dentin-containing tooth GO:0042475 9.54 BMP4 MSX1 TP63
13 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.52 BMP4 MSX1
14 smooth muscle tissue development GO:0048745 9.51 BMP4 TP63
15 keratinocyte proliferation GO:0043616 9.49 IRF6 TP63
16 embryonic skeletal joint morphogenesis GO:0060272 9.48 BMP4 SHOX2
17 palate development GO:0060021 9.46 FOXE1 MSX1 SATB2 SUMO1
18 BMP signaling pathway involved in heart development GO:0061312 9.32 BMP4 MSX1
19 cloacal septation GO:0060197 9.26 BMP4 TP63
20 embryonic limb morphogenesis GO:0030326 9.26 BMP4 MSX1 SHOX2 TP63
21 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.23 BMP4 DLX4 FOXE1 MSX1 SATB2 SHOX2
22 regulation of transcription, DNA-templated GO:0006355 10.24 DLX4 FOXE1 IRF6 MSX1 NHLH1 SATB2

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

id Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.1 DLX4 FOXE1 MSX1 SATB2 SHOX2 TP63

Sources for Orofacial Cleft

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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