MCID: ORF002
MIFTS: 38

Orofacial Cleft malady

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

Aliases & Classifications for Orofacial Cleft

Aliases & Descriptions 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 orofacial cleft 6 and orofacial cleft 11. An important gene associated with Orofacial Cleft is IRF6 (Interferon Regulatory Factor 6), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Naphthalene metabolism. The drugs Hydroxocobalamin and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include whole blood, heart and endothelial, and related phenotypes are craniofacial and limbs/digits/tail

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

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

(show top 50) (show all 67)
id Related Disease Score Top Affiliating Genes
1 orofacial cleft 6 33.3 IRF6 NHLH1 SATB2 TP63
2 orofacial cleft 11 12.3
3 orofacial cleft 5 12.3
4 orofacial cleft 10 12.2
5 tooth agenesis, selective, 1, with or without orofacial cleft 12.2
6 orofacial cleft 4 12.0
7 orofacial cleft 13 12.0
8 orofacial cleft 12 12.0
9 orofacial cleft 9 12.0
10 orofacial cleft 14 11.9
11 rapp-hodgkin syndrome 11.7
12 cleft lip/palate-ectodermal dysplasia syndrome 11.7
13 cleft lip +/- cleft palate 11.5
14 eec syndrome 11.2
15 microphthalmia, syndromic 6 11.0
16 split-hand/foot malformation 6 11.0
17 split-hand/foot malformation 4 11.0
18 split-hand/foot malformation 3 11.0
19 otofaciocervical syndrome 10.9
20 microphthalmia, syndromic 11 10.9
21 otofaciocervical syndrome 2 10.9
22 split-hand/foot malformation 1 with sensorineural hearing loss 10.9
23 split-hand/foot malformation 5 10.9
24 cleft palate, isolated 10.9
25 facial clefting, oblique, 1 10.9
26 lower lip fistula 10.3 IRF6 MSX1 TP63
27 familial abdominal aortic aneurysm 10.2 BMP4 IRF6 MSX1 TP63
28 hypomyelinating leukodystrophy 13 10.2 SATB2 TP63
29 uremia 10.2 GSTT1 NAT2
30 cleft lip 10.1
31 neural tube defects 10.1
32 chronic ethmoiditis 10.0 BMP4 IRF6 MSX1 SATB2 TP63
33 adult syndrome 10.0 SATB2 TP63
34 amebiasis 10.0 MSX1 SHOX2 TMEM54
35 differentiated thyroid carcinoma 10.0 GSTT1 IRF6 MSX1 SATB2 TP63
36 rapsn-related fetal akinesia deformation sequence 10.0 CYP1A1 GSTT1 NAT2
37 gaze palsy, horizontal, with progressive scoliosis 10.0 NHLH1 SATB2 TP63
38 tooth agenesis 10.0
39 uvula cancer 10.0 CYP1A1 GSTT1 SHOX2
40 taeniasis 9.9 BMP4 IRF6 MSX1 SATB2 TMEM54 TP63
41 gastroschisis 9.8
42 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency 9.7 BMP4 IRF6 MSX1 SATB2 SHOX2 TMEM54
43 attention deficit-hyperactivity disorder 9.7
44 holoprosencephaly 9.7
45 cor triatriatum sinister 9.7
46 corpus callosum agenesis 9.7
47 omphalocele 9.7
48 phace syndrome 9.7
49 acrofacial dysostosis 9.7
50 aneurysm 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 craniofacial MP:0005382 9.5 BMP4 IRF6 MSX1 OFCC1 SATB2 SHOX2
2 limbs/digits/tail MP:0005371 9.1 IRF6 MSX1 SATB2 SHOX2 TP63 BMP4

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 54575, 6560146 143
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
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, Heart, Endothelial, Kidney

Publications for Orofacial Cleft

Articles related to Orofacial Cleft:

(show top 50) (show all 149)
id Title Authors Year
1
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
2
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
3
Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing. ( 27834299 )
2017
4
Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice. ( 28081210 )
2017
5
Maternal underweight and obesity and risk of orofacial clefts in a large international consortium of population-based studies. ( 27215617 )
2016
6
Tooth agenesis and orofacial clefting: genetic brothers in arms? ( 27699475 )
2016
7
The incidence of Orofacial Cleft in live births in New Zealand. ( 27538040 )
2016
8
Parental cigarette smoking, transforming growth factor-alpha gene variant and the risk of orofacial cleft in Iranian infants. ( 27279979 )
2016
9
Nonsynonymous variants in MYH9 and ABCA4 are the most frequent risk loci associated with nonsyndromic orofacial cleft in Taiwanese population. ( 27527345 )
2016
10
Lamotrigine use in pregnancy and risk of orofacial cleft and other congenital anomalies. ( 27053714 )
2016
11
Nucleotide Variants of the BH4 Biosynthesis Pathway Gene GCH1 and the Risk of Orofacial Clefts. ( 26215833 )
2016
12
Associations between microRNA binding site SNPs in FGFs and FGFRs and the risk of non-syndromic orofacial cleft. ( 27511275 )
2016
13
TPM1 polymorphisms and nonsyndromic orofacial clefts susceptibility in a Chinese Han population. ( 26792422 )
2016
14
Folic acid fortification and prevalences of neural tube defects, orofacial clefts, and gastroschisis in California, 1989 to 2010. ( 27191125 )
2016
15
Maternal biomarkers of methylation status and non-syndromic orofacial cleft risk: a meta-analysis. ( 27364370 )
2016
16
Can we predict orofacial cleft in future pregnancy? ( 27546542 )
2016
17
FOXE1 polymorphisms and non-syndromic orofacial cleft susceptibility in a Chinese Han population. ( 26728781 )
2016
18
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
19
Evaluation of the association of polymorphisms in EYA1, environmental factors, and non-syndromic orofacial clefts in Western Han Chinese. ( 25640282 )
2015
20
Birth prevalence of neural tube defects and orofacial clefts in India: a systematic review and meta-analysis. ( 25768737 )
2015
21
BMP7 Gene involved in nonsyndromic orofacial clefts in Western Han Chinese. ( 25662552 )
2015
22
Psychotropic drug use in adolescents born with an orofacial cleft: a population-based study. ( 25838502 )
2015
23
MTHFD1 gene polymorphisms as risk factors involved in orofacial cleft: an independent case-control study and a meta-analysis. ( 26221324 )
2015
24
The accuracy of prenatal ultrasound in determining the type of orofacial cleft. ( 25721357 )
2015
25
Subphenotyping and Classification of Orofacial Clefts: Need for Orofacial Cleft Subphenotyping Calls for Revised Classification. ( 26171570 )
2015
26
Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts. ( 26561393 )
2015
27
DLX4 is associated with orofacial clefting and abnormal jaw development. ( 25954033 )
2015
28
Association of JARID2 polymorphisms with non-syndromic orofacial clefts in northern Chinese Han population. ( 25155265 )
2015
29
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
30
Association between FOXE1 and non-syndromic orofacial clefts in a northeastern Chinese population. ( 26100861 )
2015
31
Weight Gain Pattern of Infants with Orofacial Cleft on Three Types of Feeding Techniques. ( 25650232 )
2015
32
Maternal Supplementary Folate Intake, Methylenetetrahydrofolate Reductase (MTHFR) C677T and A1298C Polymorphisms and the Risk of Orofacial Cleft in Iranian Children. ( 26140186 )
2015
33
The status of orofacial cleft care in Ghana. ( 24603915 )
2014
34
The axis inhibition protein 2 polymorphisms and non-syndromic orofacial clefts susceptibility in a Chinese Han population. ( 24484320 )
2014
35
Symptoms of Attention-Deficit Hyperactivity Disorder, Nonsyndromic Orofacial Cleft Children, and Dopamine Polymorphisms: A Pilot Study. ( 25271118 )
2014
36
Cholesteatoma risk in 8,593 orofacial cleft cases and 6,989 siblings: A nationwide study. ( 25388367 )
2014
37
The role of the folic acid to the prevention of orofacial cleft: an epidemiological study. ( 24828118 )
2014
38
Socioeconomic influence on orofacial cleft patient care. ( 25504476 )
2014
39
Strong association of variants around FOXE1 and orofacial clefting. ( 24563486 )
2014
40
MTHFR C677T and A1298C polymorphisms and risk of nonsyndromic orofacial clefts in a south Indian population. ( 24380661 )
2014
41
Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability. ( 24678003 )
2014
42
Contribution of transforming growth factor I+ polymorphisms to nonsyndromic orofacial clefts: a HuGE review and meta-analysis. ( 24243742 )
2014
43
Associations between EYA1 single-nucleotide polymorphisms and non-syndromic orofacial clefts in Western Han Chinese. ( 23601008 )
2013
44
Early mother-child interaction and later quality of attachment in infants with an orofacial cleft compared to infants without cleft. ( 24218985 )
2013
45
Early Mother-Child Interaction and Later Quality of Attachment in Infants With an Orofacial Cleft Compared to Infants Without Cleft. ( 23611443 )
2013
46
Mesenchymal stem cells - a promising perspective in the orofacial cleft surgery. ( 23331197 )
2013
47
Identification of germline mutations in the cancer predisposing gene CDH1 in patients with orofacial clefts. ( 23197654 )
2013
48
Patterns of tooth agenesis in patients with orofacial clefts. ( 23841784 )
2013
49
MicroRNA-17-92, a direct Ap-2I+ transcriptional target, modulates T-box factor activity in orofacial clefting. ( 24068957 )
2013
50
A mutation in mouse Pak1ip1 causes orofacial clefting while human PAK1IP1 maps to 6p24 translocation breaking points associated with orofacial clefting. ( 23935987 )
2013

Variations for Orofacial Cleft

Expression for Orofacial Cleft

Search GEO for disease gene expression data for Orofacial Cleft.

Pathways for Orofacial Cleft

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

id Super pathways Score Top Affiliating Genes
1 11.05 BMP4 IRF6 MSX1 TP63
2 10.54 CYP1A1 GSTT1
3 9.86 IRF6 TP63

GO Terms for Orofacial Cleft

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

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.99 BMP4 MSX1 NHLH1 SATB2 SHOX2 TP63
2 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.97 BMP4 MSX1 SATB2 SHOX2 TP63
3 skeletal system development GO:0001501 9.74 BMP4 SHOX2 TP63
4 embryonic hindlimb morphogenesis GO:0035116 9.55 BMP4 MSX1
5 positive regulation of mesenchymal cell proliferation GO:0002053 9.54 SHOX2 TP63
6 developmental process GO:0032502 9.52 CYP1A1 TP63
7 cartilage development GO:0051216 9.5 BMP4 MSX1 SATB2
8 anatomical structure formation involved in morphogenesis GO:0048646 9.49 BMP4 TP63
9 embryonic morphogenesis GO:0048598 9.48 BMP4 SHOX2
10 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.46 BMP4 MSX1
11 keratinocyte proliferation GO:0043616 9.43 IRF6 TP63
12 odontogenesis of dentin-containing tooth GO:0042475 9.43 BMP4 MSX1 TP63
13 smooth muscle tissue development GO:0048745 9.4 BMP4 TP63
14 embryonic skeletal joint morphogenesis GO:0060272 9.37 BMP4 SHOX2
15 BMP signaling pathway involved in heart development GO:0061312 9.16 BMP4 MSX1
16 cloacal septation GO:0060197 8.96 BMP4 TP63
17 embryonic limb morphogenesis GO:0030326 8.92 BMP4 MSX1 SHOX2 TP63
18 multicellular organism development GO:0007275 10.03 BMP4 MSX1 NHLH1 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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