MCID: ORF002
MIFTS: 44

Orofacial Cleft

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Orofacial Cleft

MalaCards integrated aliases for Orofacial Cleft:

Name: Orofacial Cleft 12 29 6 15
Cleft, Orofacial 40

Classifications:



External Ids:

Disease Ontology 12 DOID:0050567

Summaries for Orofacial Cleft

Disease Ontology : 12 A physical disorder that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development.

MalaCards based summary : Orofacial Cleft, also known as cleft, orofacial, is related to orofacial cleft 1 and cleft lip/palate-ectodermal dysplasia syndrome. An important gene associated with Orofacial Cleft is OFC1 (Orofacial Cleft 1), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and TP53 Network. The drugs leucovorin and Folic acid have been mentioned in the context of this disorder. Affiliated tissues include bone, whole blood and pituitary, and related phenotypes are craniofacial and digestive/alimentary

Related Diseases for Orofacial Cleft

Diseases in the Orofacial Cleft family:

Orofacial Cleft 1 Orofacial Cleft 11
Orofacial Cleft 3 Orofacial Cleft 2
Orofacial Cleft 4 Orofacial Cleft 6
Orofacial Cleft 5 Orofacial Cleft 9
Orofacial Cleft 12 Orofacial Cleft 10
Orofacial Cleft 13 Orofacial Cleft 14
Orofacial Cleft 15 Orofacial Cleft 8

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

(show top 50) (show all 214)
# Related Disease Score Top Affiliating Genes
1 orofacial cleft 1 35.5 OFCC1 OFC1
2 cleft lip/palate-ectodermal dysplasia syndrome 34.5 TP63 NECTIN1
3 cleft palate, isolated 34.0 VAX1 TP63 NECTIN1 MSX1 IRF6 FOXE1
4 cleft lip 33.9 VAX1 TP63 SUMO1 NECTIN1 MSX1 IRF6
5 cleft lip/palate 32.6 TP63 NECTIN1 MSX1 IRF6 FOXE1 DLX4
6 isolated cleft lip 32.3 TP63 NECTIN1 MSX1 IRF6 FOXE1
7 tooth agenesis 31.6 SUMO1 MSX1 IRF6 BMP4
8 cleft lip and alveolus 31.5 TP63 NECTIN1 MSX1 IRF6
9 orofacial cleft 5 12.8
10 orofacial cleft 6 12.8
11 orofacial cleft 15 12.8
12 orofacial cleft 11 12.7
13 orofacial cleft 10 12.7
14 orofacial cleft 2 12.7
15 orofacial cleft 8 12.7
16 orofacial cleft 4 12.6
17 orofacial cleft 9 12.6
18 orofacial cleft 12 12.6
19 orofacial cleft 13 12.6
20 orofacial cleft 3 12.6
21 orofacial cleft 14 12.6
22 orofacial clefting syndrome 12.5
23 tooth agenesis, selective, 1 12.3
24 microphthalmia, syndromic 11 11.6
25 van der woude syndrome 1 11.6
26 split-hand/foot malformation 1 11.6
27 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 11.6
28 popliteal pterygium syndrome 11.5
29 microphthalmia, syndromic 6 11.5
30 split-hand/foot malformation 6 11.4
31 split-hand/foot malformation 3 11.4
32 split-hand/foot malformation 4 11.4
33 rapp-hodgkin syndrome 11.3
34 otofaciocervical syndrome 1 11.3
35 otofaciocervical syndrome 2 11.3
36 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation 11.2
37 hemifacial microsomia with radial defects 11.2
38 split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive 11.2
39 facial clefting, oblique, 1 11.2
40 split-hand/foot malformation 5 11.2
41 split hand-foot malformation 11.2
42 cleft lip with or without cleft palate 11.0
43 syngnathia 10.9 MSX1 IRF6 BMP4
44 tooth size 10.9 MSX1 BMP4
45 physical disorder 10.9 MSX1 IRF6 BMP4
46 bartsocas-papas syndrome 10.9 TP63 IRF6
47 chromosome 1q21.1 deletion syndrome, 1.35-mb 10.8 TP63 IRF6
48 synovial chondromatosis 10.8 FGF9 BMP4
49 cleft palate with or without ankyloglossia, x-linked 10.7 MSX1 BMP4
50 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 10.7 MSX1 FOXE1

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.96 BMP4 FGF9 FOXE1 IRF6 MSX1 NECTIN1
2 digestive/alimentary MP:0005381 9.76 BMP4 FGF9 FOXE1 IRF6 MSX1 SUMO1
3 skeleton MP:0005390 9.56 ABCA4 BMP4 FGF9 IRF6 MSX1 NECTIN1
4 vision/eye MP:0005391 9.23 ABCA4 BMP4 FGF9 MSX1 NECTIN1 OFCC1

Drugs & Therapeutics for Orofacial Cleft

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

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
leucovorin Approved 58-05-9 143 6006
2
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
3 glucocorticoids
4 Hormones
5 Diflucortolone
6 Diflucortolone valerate
7 Hormone Antagonists
8 Anti-Inflammatory Agents
9 Hormones, Hormone Substitutes, and Hormone Antagonists
10 Vitamin B9
11 Folate
12 Vitamin B Complex

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Risk Association of Orofacial Cleft and Glucocorticoids Exposure During Pregnancy: a Meta-analysis Completed NCT03788863 Diflucortolone valerate (BAY866146)
2 Genetic Analysis of Neural Tube and Orofacial Cleft Defects in the Irish Population Completed NCT00341068
3 Identification of Genetic Factors Implicated in Orofacial Cleft Using Whole Exome Sequencing GENEPIC Recruiting NCT03065686
4 Three-dimensional Development of the Palate in Bilateral Orofacial Cleft Newborns One Year After Early Neonatal Cheiloplasty: Classic and Geometric Morphometric Evaluation Recruiting NCT03839290

Search NIH Clinical Center for Orofacial Cleft

Genetic Tests for Orofacial Cleft

Genetic tests related to Orofacial Cleft:

# Genetic test Affiliating Genes
1 Orofacial Cleft 29

Anatomical Context for Orofacial Cleft

MalaCards organs/tissues related to Orofacial Cleft:

41
Bone, Whole Blood, Pituitary, Heart, Kidney, B Lymphoblasts

Publications for Orofacial Cleft

Articles related to Orofacial Cleft:

(show top 50) (show all 330)
# Title Authors PMID Year
1
A systematic genetic analysis and visualization of phenotypic heterogeneity among orofacial cleft GWAS signals. 38
31172578 2019
2
Can contamination of the environment by dioxins cause craniofacial defects? 38
31169026 2019
3
A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia. 38
31420900 2019
4
Nasolabial outcomes in a nationwide study of orofacial cleft in New Zealand. 38
30849215 2019
5
Holoprosencephaly, orofacial cleft, and frontonaso-orbital encephaloceles: Genetic evaluation of a possible new syndrome. 38
31353810 2019
6
The impact of cleft lip and/or palate on parental quality of life: A pilot study. 38
31369974 2019
7
Surgical, Speech, and Audiologic Outcomes in Patients With Orofacial Cleft and Van der Woude Syndrome. 38
31299749 2019
8
Reconstruction of a Unilateral Alveolar Cleft Using a Customized Allogenic Bone Block and Subsequent Dental Implant Placement in an Adult Patient. 38
31276656 2019
9
Response to comments on "Orofacial cleft management by short-term surgical missions in South America: literature review". 38
30318114 2019
10
Re: "Orofacial cleft management by short-term surgical missions in South America: literature review". 38
30935819 2019
11
Five decades of orofacial cleft management and research in Brazil. 38
30297262 2019
12
Oral Health-Related Quality of Life and Dental Caries Status in Children With Orofacial Cleft: An Indian Outlook. 38
31198331 2019
13
Two novel genes TOX3 and COL21A1 in large extended Malay families with nonsyndromic cleft lip and/or palate. 38
30924295 2019
14
Surgical, Speech, and Audiologic Outcomes in Patients With Orofacial Cleft and Van der Woude Syndrome. 38
31058728 2019
15
Patient-Perceived Barriers to Accessing Cleft Care at a Tertiary Referral Center in São Paulo, Brazil. 38
30153749 2019
16
A Comparison of Early Versus Late Prenatal Magnetic Resonance Imaging in the Diagnosis of Cleft Palate. 38
30855394 2019
17
Social impact of cleft lip repair on married adults: an uncommon finding from a semi-urban African settlement. 38
30850222 2019
18
Maternal folic acid supplementation reduces the severity of cleft palate in Tgf-β3 null mutant mice. 38
30683931 2019
19
Cleft Palate with or without Cleft Lip: The Role of Retronasal Triangle View and Maxillary Gap at 11-14 Weeks. 38
30852571 2019
20
Orthodontic-Surgical Approach for Treating Skeletal Class III Malocclusion With Severe Maxillary Deficiency in Isolated Cleft Palate. 38
29787302 2019
21
Proportion of Orofacial Clefts Attributable to Recognized Risk Factors. 38
29727221 2019
22
Molecular Screening of VAX1 Gene Polymorphisms Uncovered the Genetic Heterogeneity of Nonsyndromic Orofacial Cleft Among Saudi Arabian Patients. 38
30633559 2019
23
GESTATIONAL DIABETES MELLITUS AND THE DEVELOPMENT OF CLEFT LIP / PALATE IN NEWBORNS. 38
31149070 2019
24
First trimester ondansetron exposure and risk of structural birth defects. 38
30385129 2019
25
Nonsyndromic orofacial clefts among Jews and non-Jews born in 13 hospitals in Israel during 1993-2005. 38
29956842 2018
26
Malthus Mysterious Orofacial Cleft Correction. 38
29537879 2018
27
Orofacial cleft management by short-term surgical missions in South America: literature review. 38
29945819 2018
28
Identification of paternal uniparental disomy on chromosome 22 and a de novo deletion on chromosome 18 in individuals with orofacial clefts. 38
30141273 2018
29
A score-based method for quality control of fetal hard palate assessment during routine second-trimester ultrasound examination. 38
29964326 2018
30
Candida species biotypes in the oral cavity of infants and children with orofacial clefts under surgical rehabilitation. 38
30138757 2018
31
Interaction Effect of RsaI and BamHI Polymorphisms of TGFα, BMP2 and BMP4 on the Occurrence of Non-Syndromic Cleft Lip and Palate in Iranian Patients. 38
30555658 2018
32
An optimized imaging protocol for orofacial cleft patients. 38
30386636 2018
33
Machine Learning Models for Genetic Risk Assessment of Infants with Non-syndromic Orofacial Cleft. 38
30578914 2018
34
Patterns of Orofacial Clefting in New York City From 1983 to 2010: Trends by Racial Background, Birthplace, and Public Health Strategies. 38
29665339 2018
35
Change in Prevalence of Orofacial Clefts in California between 1987 and 2010. 38
30063089 2018
36
Parental occupational pesticide exposure and nonsyndromic orofacial clefts. 38
29993348 2018
37
Van der Woude and Popliteal Pterygium Syndromes. 38
29916977 2018
38
Long-term significant seasonal differences in the numbers of new-borns with an orofacial cleft in the Czech Republic - a retrospective study. 38
30153794 2018
39
Drinking water disinfection byproducts and risk of orofacial clefts in the National Birth Defects Prevention Study. 38
30133956 2018
40
Soft tissue nasal asymmetry as an indicator of orofacial cleft predisposition. 38
29663709 2018
41
Cortical Bone Graft and GTR Membrane as "Ceiling Effect" in Alveolar Bone Grafting. 38
29618896 2018
42
A functional polymorphism in the pre-miR-146a gene is associated with the risk of nonsyndromic orofacial cleft. 38
29484780 2018
43
GWAS reveals loci associated with velopharyngeal dysfunction. 38
29855589 2018
44
The impact of nonsyndromic cleft lip with or without cleft palate on oral health-related quality of life. 38
29641750 2018
45
Association between a single-nucleotide polymorphism in the GREM1 gene and non-syndromic orofacial cleft in the Chinese population. 38
29149498 2018
46
Analysis of Parent-of-Origin Effects on the X Chromosome in Asian and European Orofacial Cleft Triads Identifies Associations with DMD, FGF13, EGFL6, and Additional Loci at Xp22.2. 38
29520293 2018
47
Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three Children. 38
30271639 2018
48
CranFlow: An Application for Record-Taking and Management Through the Brazilian Database on Craniofacial Anomalies. 38
28949457 2018
49
Ept7, a quantitative trait locus that controls estrogen-induced pituitary lactotroph hyperplasia in rat, is orthologous to a locus in humans that has been associated with numerous cancer types and common diseases. 38
30261014 2018
50
Strong Association of C677T Polymorphism of Methylenetetrahydrofolate Reductase Gene With Nosyndromic Cleft Lip/Palate (nsCL/P). 38
29371764 2018

Variations for Orofacial Cleft

ClinVar genetic disease variations for Orofacial Cleft:

6 (show all 23)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 BMP4 NM_001202.6(BMP4): c.*143A> T single nucleotide variant Uncertain significance rs750395429 14:54416607-54416607 14:53949889-53949889
2 BMP4 NM_001202.6(BMP4): c.*251C> T single nucleotide variant Uncertain significance rs573118445 14:54416499-54416499 14:53949781-53949781
3 BMP4 NM_001202.6(BMP4): c.*150del deletion Uncertain significance rs878985651 14:54416600-54416600 14:53949882-53949882
4 BMP4 NM_001202.6(BMP4): c.*148_*149insAAT insertion Uncertain significance rs796563569 14:54416601-54416602 14:53949883-53949884
5 BMP4 NM_001202.6(BMP4): c.*148_*149insT insertion Uncertain significance rs796563569 14:54416601-54416602 14:53949883-53949884
6 BMP4 NM_001202.6(BMP4): c.*35C> G single nucleotide variant Uncertain significance rs886050540 14:54416715-54416715 14:53949997-53949997
7 BMP4 NM_001202.6(BMP4): c.-342G> A single nucleotide variant Uncertain significance rs778139957 14:54423477-54423477 14:53956759-53956759
8 BMP4 NM_001202.6(BMP4): c.*272A> G single nucleotide variant Uncertain significance rs568281464 14:54416478-54416478 14:53949760-53949760
9 BMP4 NM_001202.6(BMP4): c.*149G> A single nucleotide variant Uncertain significance rs74495140 14:54416601-54416601 14:53949883-53949883
10 BMP4 NM_001202.6(BMP4): c.*148_*149del deletion Uncertain significance rs140085940 14:54416601-54416602 14:53949883-53949884
11 BMP4 NM_001202.6(BMP4): c.*146_*148dup duplication Uncertain significance rs1555339771 14:54416602-54416604 14:53949884-53949886
12 BMP4 NM_001202.6(BMP4): c.370+12C> T single nucleotide variant Uncertain significance rs368426865 14:54418559-54418559 14:53951841-53951841
13 BMP4 NM_001202.6(BMP4): c.288A> G (p.Glu96=) single nucleotide variant Uncertain significance rs886050541 14:54418653-54418653 14:53951935-53951935
14 BMP4 NM_001202.6(BMP4): c.224A> G (p.Lys75Arg) single nucleotide variant Uncertain significance rs777501416 14:54418717-54418717 14:53951999-53951999
15 BMP4 NM_001202.6(BMP4): c.215A> G (p.Gln72Arg) single nucleotide variant Uncertain significance rs771047931 14:54418726-54418726 14:53952008-53952008
16 BMP4 NM_001202.6(BMP4): c.*148_*149insAT insertion Uncertain significance rs796563569 14:54416601-54416602 14:53949883-53949884
17 BMP4 NM_001202.6(BMP4): c.*148_*149insAG insertion Uncertain significance rs796563569 14:54416601-54416602 14:53949883-53949884
18 BMP4 NM_001202.6(BMP4): c.*145_*149del deletion Uncertain significance rs886050539 14:54416601-54416605 14:53949883-53949887
19 BMP4 NM_001202.6(BMP4): c.*131A> T single nucleotide variant Uncertain significance rs76149166 14:54416619-54416619 14:53949901-53949901
20 BMP4 NM_001202.6(BMP4): c.-146T> C single nucleotide variant Likely benign rs73267467 14:54423281-54423281 14:53956563-53956563
21 BMP4 NM_001202.6(BMP4): c.*148A> T single nucleotide variant Likely benign rs76335800 14:54416602-54416602 14:53949884-53949884
22 BMP4 NM_001202.6(BMP4): c.*88C> T single nucleotide variant Likely benign rs74054236 14:54416662-54416662 14:53949944-53949944
23 BMP4 NM_001202.6(BMP4): c.455T> C (p.Val152Ala) single nucleotide variant Benign/Likely benign rs17563 14:54417522-54417522 14:53950804-53950804

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:

# Super pathways Score Top Affiliating Genes
1 11.05 TP63 MSX1 IRF6 BMP4
2
Show member pathways
10.5 TP63 SUMO1
3 9.86 TP63 IRF6

GO Terms for Orofacial Cleft

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.97 VAX1 TP63 IRF6 FOXE1 FGF9 BMP4
2 negative regulation of transcription, DNA-templated GO:0045892 9.88 TP63 SUMO1 MSX1 FOXE1 BMP4
3 negative regulation of DNA binding GO:0043392 9.58 SUMO1 MSX1
4 embryonic forelimb morphogenesis GO:0035115 9.58 TP63 MSX1
5 odontogenesis of dentin-containing tooth GO:0042475 9.58 TP63 MSX1 BMP4
6 pituitary gland development GO:0021983 9.57 MSX1 BMP4
7 hair follicle morphogenesis GO:0031069 9.56 TP63 FOXE1
8 anatomical structure formation involved in morphogenesis GO:0048646 9.54 TP63 BMP4
9 camera-type eye morphogenesis GO:0048593 9.52 NECTIN1 BMP4
10 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.46 MSX1 BMP4
11 roof of mouth development GO:0060021 9.46 VAX1 SUMO1 MSX1 FOXE1
12 cranial skeletal system development GO:1904888 9.43 TP63 FOXE1
13 embryonic hindlimb morphogenesis GO:0035116 9.43 TP63 MSX1 BMP4
14 BMP signaling pathway involved in heart development GO:0061312 9.37 MSX1 BMP4
15 cloacal septation GO:0060197 9.32 TP63 BMP4
16 embryonic limb morphogenesis GO:0030326 9.26 TP63 MSX1 FGF9 BMP4
17 negative regulation of transcription by RNA polymerase II GO:0000122 9.23 VAX1 TP63 SUMO1 MSX1 FOXE1 FGF9
18 regulation of transcription, DNA-templated GO:0006355 10.05 VAX1 TP63 SUMO1 MSX1 IRF6 FOXE1
19 multicellular organism development GO:0007275 10.02 VAX1 TP63 MSX1 FGF9 DLX4 BMP4

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

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.1 VAX1 TP63 MSX1 IRF6 FOXE1 DLX4

Sources for Orofacial Cleft

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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