MCID: CLF056
MIFTS: 42

Cleft Lip with or Without Cleft Palate

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Cleft Lip with or Without Cleft Palate

Summaries for Cleft Lip with or Without Cleft Palate

MalaCards based summary : Cleft Lip with or Without Cleft Palate, also known as tessier cleft number 1,2, is related to orofacial cleft 10 and orofacial cleft 1. An important gene associated with Cleft Lip with or Without Cleft Palate is ARHGAP29 (Rho GTPase Activating Protein 29), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors. The drugs leucovorin and Folic acid have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and testes, and related phenotypes are non-midline cleft lip and hearing impairment

Related Diseases for Cleft Lip with or Without Cleft Palate

Diseases related to Cleft Lip with or Without Cleft Palate via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 orofacial cleft 10 33.6 SUMO1 IRF6
2 orofacial cleft 1 33.4 TFAP2A OFC1
3 cleft lip/palate-ectodermal dysplasia syndrome 33.3 NECTIN1 IRF6
4 branchiooculofacial syndrome 32.3 TFAP2A MSX1 IRF6
5 popliteal pterygium syndrome 31.2 TFAP2A NECTIN1 MSX1 IRF6 ARHGAP29
6 cleft lip and alveolus 30.9 NECTIN1 MSX1 IRF6
7 van der woude syndrome 1 30.7 TGFA TFAP2A TBX10 NECTIN1 MSX1 IRF6
8 tooth size 30.6 MSX1 BMP4
9 isolated cleft lip 30.6 TBX10 NECTIN1 MSX1 IRF6
10 cleft palate, isolated 30.4 TGFA TFAP2A TBX10 SUMO1 NECTIN1 MSX1
11 cleft lip/palate 29.5 TGFA NECTIN1 MSX1 IRF6 CDH1 BMP4
12 orofacial cleft 27.8 TGFA TFAP2A TBX10 SUMO1 OFC1 NECTIN1
13 tooth agenesis 27.6 TGFA SUMO1 NTN1 NECTIN1 MSX1 IRF6
14 cleft lip 27.4 TGFA TFAP2A TBX10 SUMO1 OFC1 NTN1
15 auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome 12.7
16 orofacial cleft 11 12.5
17 orofacial cleft 5 12.5
18 orofacial cleft 6 12.5
19 orofacial cleft 8 12.3
20 orofacial cleft 3 12.2
21 orofacial cleft 12 12.1
22 orofacial cleft 2 12.1
23 orofacial cleft 4 12.1
24 gastric cancer, hereditary diffuse 11.8
25 orofacial cleft 9 11.8
26 patau syndrome 11.8
27 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 11.6
28 roberts syndrome 11.4
29 orofacial cleft 15 11.4
30 orofacial clefting syndrome 10.7
31 neural tube defects 10.5
32 hand skill, relative 10.4
33 ectodermal dysplasia 10.4
34 fibrosarcoma 10.4
35 facial cleft 10.4
36 hair whorl 10.2
37 split-hand/foot malformation 1 10.2
38 down syndrome 10.2
39 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 10.2
40 acetylation, slow 10.2
41 lip prints 10.2
42 opitz gbbb syndrome, type i 10.2
43 body mass index quantitative trait locus 1 10.2
44 common cold 10.2
45 heart disease 10.2
46 dyslexia 10.2
47 holoprosencephaly 10.2
48 rubella 10.2
49 toxoplasmosis 10.2
50 47,xyy 10.2

Graphical network of the top 20 diseases related to Cleft Lip with or Without Cleft Palate:



Diseases related to Cleft Lip with or Without Cleft Palate

Symptoms & Phenotypes for Cleft Lip with or Without Cleft Palate

Human phenotypes related to Cleft Lip with or Without Cleft Palate:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 non-midline cleft lip 58 31 obligate (100%) Obligate (100%) HP:0100335
2 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
3 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
4 recurrent otitis media 58 31 frequent (33%) Frequent (79-30%) HP:0000403
5 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
6 chronic sinusitis 58 31 frequent (33%) Frequent (79-30%) HP:0011109
7 non-midline cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0100338
8 submucous cleft of soft and hard palate 58 31 frequent (33%) Frequent (79-30%) HP:0410031
9 median cleft lip 58 Excluded (0%)
10 median cleft lip and palate 58 Excluded (0%)

MGI Mouse Phenotypes related to Cleft Lip with or Without Cleft Palate:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.13 ARHGAP29 BMP4 IRF6 MSX1 NECTIN1 SUMO1
2 digestive/alimentary MP:0005381 10.11 ARHGAP29 BMP4 CDH1 IRF6 MSX1 SUMO1
3 growth/size/body region MP:0005378 10.07 ARHGAP29 BMP4 CDH1 IRF6 MSX1 NECTIN1
4 endocrine/exocrine gland MP:0005379 9.95 BMP4 CDH1 MSX1 NTN1 SUMO1 TFAP2A
5 embryo MP:0005380 9.91 ARHGAP29 BMP4 CDH1 IRF6 MSX1 TFAP2A
6 integument MP:0010771 9.91 BMP4 CDH1 IRF6 MSX1 NECTIN1 NTN1
7 hearing/vestibular/ear MP:0005377 9.87 ARHGAP29 BMP4 IRF6 MSX1 NTN1 TBX10
8 mortality/aging MP:0010768 9.85 ARHGAP29 BMP4 CDH1 IRF6 MSX1 NECTIN1
9 normal MP:0002873 9.43 BMP4 CDH1 MSX1 SUMO1 TBX10 TFAP2A
10 vision/eye MP:0005391 9.1 BMP4 MSX1 NECTIN1 TBX10 TFAP2A TGFA

Drugs & Therapeutics for Cleft Lip with or Without Cleft Palate

Drugs for Cleft Lip with or Without Cleft Palate (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
leucovorin Approved Phase 3 58-05-9 6006 143
2
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
3 Trace Elements Phase 3
4 Hematinics Phase 3
5 Vitamins Phase 3
6 Vitamin B Complex Phase 3
7 Micronutrients Phase 3
8 Vitamin B9 Phase 3
9 Nutrients Phase 3
10 Folate Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Oral Cleft Prevention Trial in Brazil Completed NCT00098319 Phase 3 Folic acid (0.4mg vs. 4.0mg)
2 Systematic Pediatric Care for Oral Clefts - South America Completed NCT00097149

Search NIH Clinical Center for Cleft Lip with or Without Cleft Palate

Genetic Tests for Cleft Lip with or Without Cleft Palate

Anatomical Context for Cleft Lip with or Without Cleft Palate

MalaCards organs/tissues related to Cleft Lip with or Without Cleft Palate:

40
Heart, Bone, Testes, Whole Blood, Brain, Eye, Liver

Publications for Cleft Lip with or Without Cleft Palate

Articles related to Cleft Lip with or Without Cleft Palate:

(show top 50) (show all 1024)
# Title Authors PMID Year
1
Target Capture/Next-Generation Sequencing for Nonsyndromic Cleft Lip and Palate in the Japanese Population. 61
31337262 2020
2
Tissue engineering strategies combining molecular targets against inflammation and fibrosis, and umbilical cord blood stem cells to improve hampered muscle and skin regeneration following cleft repair. 61
31104334 2020
3
Maternal Related Factors in the Origin of Isolated Cleft Palate - a Population-based Case-control Study. 61
31854100 2019
4
Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports SH3PXD2A as a Clefting Susceptibility Gene. 61
31817908 2019
5
Exploring Research Priorities of Parents Who Have Children With Down Syndrome, Cleft Lip With or Without Cleft Palate, Congenital Heart Defects, or Spina Bifida Using ConnectEpeople: A Social Media Coproduction Research Study. 61
31763986 2019
6
Association of single nucleotide polymorphisms at 20q12 with nonsyndromic cleft lip with or without cleft palate in a Southern Chinese Han cohort. 61
31713353 2019
7
The functional variant of NTN1 contributes to the risk of nonsyndromic cleft lip with or without cleft palate. 61
31780810 2019
8
A Novel CDH1 Mutation Causing Reduced E-Cadherin Dimerization Is Associated with Nonsyndromic Cleft Lip With or Without Cleft Palate. 61
31638429 2019
9
A SHMT1 variant decreases the risk of nonsyndromic cleft lip with or without cleft palate in Chile. 61
31713293 2019
10
Comparative evaluation of bone microstructure in alveolar cleft repair by cone beam CT: influence of different autologous donor sites and additional application of β-tricalcium phosphate. 61
31707628 2019
11
Maternal alcohol consumption and oral clefts: a meta-analysis. 61
31473040 2019
12
Association between methylenetetrahydrofolate reductase polymorphisms and non-syndromic cleft lip with or without palate susceptibility: an updated systematic review and meta-analysis. 61
31303355 2019
13
Care of the Asian American Child With Cleft Lip or Palate. 61
31790043 2019
14
Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans. 61
31215115 2019
15
Gene-gene interaction among cell adhesion genes and risk of nonsyndromic cleft lip with or without cleft palate in Chinese case-parent trios. 61
31419083 2019
16
Association of Genetic Polymorphisms of GREM1 Gene with Susceptibility to Non-Syndromic Cleft Lip with or without Cleft Palate in an Iranian Population. 61
31650875 2019
17
Three GLI2 mutations combined potentially underlie non-syndromic cleft lip with or without cleft palate in a Chinese pedigree. 61
31386309 2019
18
LINE-1 methylation in cleft lip tissues: Influence of infant MTHFR c.677C>T genotype. 61
31161688 2019
19
MSX1 gene polymorphisms and non-syndromic cleft lip with or without palate (NSCL/P): A meta-analysis. 61
31132300 2019
20
Mutations of GADD45G in rabbits cause cleft lip by the disorder of proliferation, apoptosis and epithelial-mesenchymal transition (EMT). 61
31150757 2019
21
PAX7 nucleotide variants and the risk of non-syndromic orofacial clefts in the Polish population. 61
31173442 2019
22
Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases. 61
31053785 2019
23
Exploring GRHL3 polymorphisms and SNP-SNP interactions in the risk of non-syndromic oral clefts in the Brazilian population. 61
31564061 2019
24
Association between early prenatal exposure to ambient air pollution and birth defects: evidence from newborns in Xi'an, China. 61
30137461 2019
25
Protective effect of folic acid on vulnerability to oxidative stress in dental pulp stem cells of deciduous teeth from children with orofacial clefts. 61
31202461 2019
26
Speech Phenotyping in Unaffected Family Members of Individuals With Nonsyndromic Cleft Lip With or Without Palate. 61
30696259 2019
27
Exploring the interaction between FGF Genes and T-box genes among chinese nonsyndromic cleft lip with or without cleft palate case-parent trios. 61
30848863 2019
28
Association of single nucleotide polymorphisms in TPM1 rs11071720, rs3803499, rs12148828, and rs1972041 with the risk of nonsyndromic cleft lip with or without cleft palate in a sample of the Iranian population, a preliminary report. 61
30888054 2019
29
WNT10A rs147680216 G>A mutation indicates a higher risk for non-syndromic oral cleft in a northeastern Chinese population. 61
31155400 2019
30
Association of Axis Inhibition Protein 2 Polymorphisms with Non-Syndromic Cleft Lip with or without Cleft Palate in Iranian Children. 61
31268379 2019
31
Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate. 61
31063268 2019
32
Association of IFT88 gene variants with nonsyndromic cleft lip with or without cleft palate. 61
30953423 2019
33
Comprehensive analysis of differentially expressed profiles of non‑coding RNAs in peripheral blood and ceRNA regulatory networks in non‑syndromic orofacial clefts. 61
31115538 2019
34
Prevalence of Congenital Anomalies in the Japan Environment and Children's Study. 61
30249945 2019
35
A systematic literature review on the European, African and Amerindian genetic ancestry components on Brazilian health outcomes. 61
31221977 2019
36
[Study regarding the parent-of-origin effect of WNT pathway genes on non-syndromic cleft lip with or without cleft palate among the Chinese population]. 61
31238617 2019
37
Investigation of candidate genes of non-syndromic cleft lip with or without cleft palate, using both case-control and family-based association studies. 61
31261547 2019
38
[Exploring the association between SPRY gene family and non-syndromic oral clefts among Chinese populations using data of a next-generation sequencing study]. 61
31209432 2019
39
Current concepts on cleft lip and palate etiology. 61
31538461 2019
40
Efficacy of Periconceptional High-Dose Folic Acid in Isolated Orofacial Cleft Prevention: A Systematic Review. 61
31602129 2019
41
MicroRNA-655-3p and microRNA-497-5p inhibit cell proliferation in cultured human lip cells through the regulation of genes related to human cleft lip. 61
31122291 2019
42
Care of the Asian American Child With Cleft Lip or Palate. 61
31136555 2019
43
Parental views of antenatal testing and termination following a diagnosis of cleft lip. 61
30280914 2019
44
Birth prevalence of orofacial clefts among perinatal infants: A register-based study in Bao'an district, Shenzhen, China. 61
30802003 2019
45
Association between selected essential trace element concentrations in umbilical cord and risk for cleft lip with or without cleft palate: A case-control study. 61
30669052 2019
46
Non-syndromic cleft lip with or without palate susceptible loci is associated with tooth agenesis. 61
30578605 2019
47
Interactions between superoxide dismutase and paraoxonase polymorphic variants in nonsyndromic cleft lip with or without cleft palate in the Brazilian population. 61
30240501 2019
48
Association of low-frequency genetic variants in regulatory regions with nonsyndromic orofacial clefts. 61
30582786 2019
49
NTN1 gene was risk to non-syndromic cleft lip only among Han Chinese population. 61
30506619 2019
50
Association Between DLX4 Polymorphisms and Nonsyndromic Orofacial Clefts in a Chinese Han Population. 61
29738288 2019

Variations for Cleft Lip with or Without Cleft Palate

Expression for Cleft Lip with or Without Cleft Palate

Search GEO for disease gene expression data for Cleft Lip with or Without Cleft Palate.

GO Terms for Cleft Lip with or Without Cleft Palate

Cellular components related to Cleft Lip with or Without Cleft Palate according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical junction complex GO:0043296 8.62 NECTIN1 CDH1

Biological processes related to Cleft Lip with or Without Cleft Palate according to GeneCards Suite gene sharing:

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.93 TFAP2A TBX10 MSX1 IRF6 BMP4
2 positive regulation of transcription, DNA-templated GO:0045893 9.91 TFAP2A IRF6 CDH1 BMP4
3 negative regulation of transcription, DNA-templated GO:0045892 9.85 TFAP2A SUMO1 MSX1 BMP4
4 negative regulation of apoptotic process GO:0043066 9.81 TGFA TFAP2A MSX1 BMP4
5 negative regulation of transcription by RNA polymerase II GO:0000122 9.77 TFAP2A TBX10 SUMO1 MSX1 BMP4
6 negative regulation of cell proliferation GO:0008285 9.71 TFAP2A MSX1 IRF6 BMP4
7 cell-cell adhesion GO:0098609 9.65 NTN1 NECTIN1 CDH1
8 tissue development GO:0009888 9.63 NTN1 BMP4
9 adherens junction organization GO:0034332 9.62 NECTIN1 CDH1
10 regulation of cell differentiation GO:0045595 9.62 TFAP2A BMP4
11 positive regulation of bone mineralization GO:0030501 9.61 TFAP2A BMP4
12 odontogenesis GO:0042476 9.6 MSX1 BMP4
13 bone morphogenesis GO:0060349 9.59 TFAP2A MSX1
14 protein localization to nucleus GO:0034504 9.58 MSX1 BMP4
15 positive regulation of BMP signaling pathway GO:0030513 9.58 MSX1 BMP4
16 embryonic cranial skeleton morphogenesis GO:0048701 9.57 TFAP2A BMP4
17 negative regulation of DNA binding GO:0043392 9.56 SUMO1 MSX1
18 embryonic forelimb morphogenesis GO:0035115 9.52 TFAP2A MSX1
19 embryonic hindlimb morphogenesis GO:0035116 9.49 MSX1 BMP4
20 camera-type eye morphogenesis GO:0048593 9.46 NECTIN1 BMP4
21 embryonic morphogenesis GO:0048598 9.43 MSX1 BMP4
22 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.32 MSX1 BMP4
23 regulation of synapse assembly GO:0051963 9.26 NTN1 NECTIN1
24 BMP signaling pathway involved in heart development GO:0061312 9.16 MSX1 BMP4
25 pituitary gland development GO:0021983 9.13 MSX1 CDH1 BMP4
26 roof of mouth development GO:0060021 8.92 TFAP2A SUMO1 MSX1 IRF6

Molecular functions related to Cleft Lip with or Without Cleft Palate according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 8.92 TFAP2A TBX10 MSX1 IRF6

Sources for Cleft Lip with or Without Cleft Palate

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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