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 cleft lip/palate-ectodermal dysplasia syndrome and van der woude syndrome 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 Neural Crest Differentiation. 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 67)
# Related Disease Score Top Affiliating Genes
1 cleft lip/palate-ectodermal dysplasia syndrome 33.4 TP63 NECTIN1
2 van der woude syndrome 1 32.9 TFAP2A IRF6
3 popliteal pterygium syndrome 32.4 TFAP2A IRF6
4 tooth size 30.9 MSX1 BMP4
5 cleft lip and alveolus 30.5 TP63 NECTIN1 MSX1 IRF6
6 tooth agenesis 30.0 SUMO1 MSX1 IRF6 BMP4
7 cleft palate, isolated 29.5 TP63 TFAP2A NECTIN1 MTHFR MSX1 IRF6
8 isolated cleft lip 29.5 TP63 TBX10 NECTIN1 MSX1 IRF6 FOXE1
9 orofacial cleft 29.0 TP63 SUMO1 NECTIN1 MSX1 IRF6 FOXE1
10 cleft lip/palate 28.6 TP63 NECTIN1 MTHFR MSX1 IRF6 FOXE1
11 cleft lip 28.3 TP63 TFAP2A TBX10 SUMO1 NECTIN1 MTHFR
12 auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome 12.7
13 orofacial cleft 11 12.5
14 orofacial cleft 5 12.5
15 orofacial cleft 1 12.5
16 orofacial cleft 6 12.5
17 orofacial cleft 10 12.3
18 orofacial cleft 8 12.3
19 orofacial cleft 3 12.1
20 orofacial cleft 12 12.1
21 orofacial cleft 2 12.1
22 orofacial cleft 4 12.1
23 gastric cancer, hereditary diffuse 11.8
24 orofacial cleft 9 11.8
25 branchiooculofacial syndrome 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 hand skill, relative 10.4
32 neural tube defects 10.4
33 pulmonary alveolar microlithiasis 10.4
34 ectodermal dysplasia 10.4
35 fibrosarcoma 10.4
36 facial cleft 10.4
37 cleft palate with or without ankyloglossia, x-linked 10.3 MSX1 BMP4
38 bartsocas-papas syndrome 10.3 TP63 IRF6
39 chromosome 1q21.1 deletion syndrome, 1.35-mb 10.2 TP63 IRF6
40 hair whorl 10.2
41 split-hand/foot malformation 1 10.2
42 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 10.2
43 acetylation, slow 10.2
44 lip prints 10.2
45 opitz gbbb syndrome, type i 10.2
46 body mass index quantitative trait locus 1 10.2
47 immunodeficiency, common variable, 10 10.2
48 common cold 10.2
49 heart disease 10.2
50 dyslexia 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:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 non-midline cleft lip 59 32 obligate (100%) Obligate (100%) HP:0100335
2 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
3 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
4 recurrent otitis media 59 32 frequent (33%) Frequent (79-30%) HP:0000403
5 specific learning disability 59 32 frequent (33%) Frequent (79-30%) HP:0001328
6 chronic sinusitis 59 32 frequent (33%) Frequent (79-30%) HP:0011109
7 non-midline cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0100338
8 submucous cleft of soft and hard palate 59 32 frequent (33%) Frequent (79-30%) HP:0410031
9 median cleft lip 59 Excluded (0%)
10 median cleft lip and palate 59 Excluded (0%)

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

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.21 ARHGAP29 BMP4 CRISPLD2 FOXE1 IRF6 MSX1
2 craniofacial MP:0005382 10.19 ARHGAP29 BMP4 FOXE1 IRF6 MSX1 NECTIN1
3 digestive/alimentary MP:0005381 10.13 ARHGAP29 BMP4 FOXE1 IRF6 MSX1 SUMO1
4 mortality/aging MP:0010768 10.03 ARHGAP29 BMP4 CRISPLD2 FOXE1 IRF6 MSX1
5 integument MP:0010771 10.02 BMP4 FOXE1 IRF6 MSX1 MTHFR NECTIN1
6 embryo MP:0005380 10 ARHGAP29 BMP4 CRISPLD2 IRF6 MSX1 TFAP2A
7 hearing/vestibular/ear MP:0005377 9.8 BMP4 IRF6 MSX1 TBX10 TFAP2A
8 limbs/digits/tail MP:0005371 9.8 BMP4 IRF6 MSX1 MTHFR TFAP2A TP63
9 normal MP:0002873 9.63 BMP4 MSX1 SUMO1 TBX10 TFAP2A TP63
10 skeleton MP:0005390 9.56 BMP4 CRISPLD2 IRF6 MSX1 MTHFR NECTIN1
11 vision/eye MP:0005391 9.17 BMP4 MSX1 MTHFR NECTIN1 TBX10 TFAP2A

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 58-05-9 143 6006
2
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
3 Micronutrients Phase 3
4 Hematinics Phase 3
5 Trace Elements Phase 3
6 Folate Phase 3
7 Vitamins Phase 3
8 Vitamin B9 Phase 3
9 Vitamin B Complex Phase 3
10 Nutrients 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:

41
Heart, Bone, Testes, Whole Blood, Brain, Liver, Eye

Publications for Cleft Lip with or Without Cleft Palate

Articles related to Cleft Lip with or Without Cleft Palate:

(show top 50) (show all 1008)
# Title Authors PMID Year
1
Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases. 38
31053785 2019
2
Mutations of GADD45G in rabbits cause cleft lip by the disorder of proliferation, apoptosis and epithelial-mesenchymal transition (EMT). 38
31150757 2019
3
Speech Phenotyping in Unaffected Family Members of Individuals With Nonsyndromic Cleft Lip With or Without Palate. 38
30696259 2019
4
Protective effect of folic acid on vulnerability to oxidative stress in dental pulp stem cells of deciduous teeth from children with orofacial clefts. 38
31202461 2019
5
Three GLI2 mutations combined potentially underlie non-syndromic cleft lip with or without cleft palate in a Chinese pedigree. 38
31386309 2019
6
Exploring the interaction between FGF Genes and T-box genes among chinese nonsyndromic cleft lip with or without cleft palate case-parent trios. 38
30848863 2019
7
Gene-gene interaction among cell adhesion genes and risk of nonsyndromic cleft lip with or without cleft palate in Chinese case-parent trios. 38
31419083 2019
8
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. 38
30888054 2019
9
WNT10A rs147680216 G>A mutation indicates a higher risk for non-syndromic oral cleft in a northeastern Chinese population. 38
31155400 2019
10
Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate. 38
31063268 2019
11
Association of Axis Inhibition Protein 2 Polymorphisms with Non-Syndromic Cleft Lip with or without Cleft Palate in Iranian Children. 38
31268379 2019
12
Association of IFT88 gene variants with nonsyndromic cleft lip with or without cleft palate. 38
30953423 2019
13
Target Capture/Next-Generation Sequencing for Nonsyndromic Cleft Lip and Palate in the Japanese Population. 38
31337262 2019
14
Prevalence of Congenital Anomalies in the Japan Environment and Children's Study. 38
30249945 2019
15
Comprehensive analysis of differentially expressed profiles of non‑coding RNAs in peripheral blood and ceRNA regulatory networks in non‑syndromic orofacial clefts. 38
31115538 2019
16
Association between methylenetetrahydrofolate reductase polymorphisms and non-syndromic cleft lip with or without palate susceptibility: an updated systematic review and meta-analysis. 38
31303355 2019
17
Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans. 38
31215115 2019
18
A systematic literature review on the European, African and Amerindian genetic ancestry components on Brazilian health outcomes. 38
31221977 2019
19
PAX7 nucleotide variants and the risk of non-syndromic orofacial clefts in the Polish population. 38
31173442 2019
20
LINE-1 methylation in cleft lip tissues: Influence of infant MTHFR c.677C>T genotype. 38
31161688 2019
21
Investigation of candidate genes of non-syndromic cleft lip with or without cleft palate, using both case-control and family-based association studies. 38
31261547 2019
22
[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]. 38
31238617 2019
23
[Exploring the association between SPRY gene family and non-syndromic oral clefts among Chinese populations using data of a next-generation sequencing study]. 38
31209432 2019
24
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. 38
31104334 2019
25
MSX1 gene polymorphisms and non-syndromic cleft lip with or without palate (NSCL/P): A meta-analysis. 38
31132300 2019
26
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. 38
31122291 2019
27
Care of the Asian American Child With Cleft Lip or Palate. 38
31136555 2019
28
Parental views of antenatal testing and termination following a diagnosis of cleft lip. 38
30280914 2019
29
Birth prevalence of orofacial clefts among perinatal infants: A register-based study in Bao'an district, Shenzhen, China. 38
30802003 2019
30
Association between selected essential trace element concentrations in umbilical cord and risk for cleft lip with or without cleft palate: A case-control study. 38
30669052 2019
31
Non-syndromic cleft lip with or without palate susceptible loci is associated with tooth agenesis. 38
30578605 2019
32
Interactions between superoxide dismutase and paraoxonase polymorphic variants in nonsyndromic cleft lip with or without cleft palate in the Brazilian population. 38
30240501 2019
33
Association of low-frequency genetic variants in regulatory regions with nonsyndromic orofacial clefts. 38
30582786 2019
34
Association Between DLX4 Polymorphisms and Nonsyndromic Orofacial Clefts in a Chinese Han Population. 38
29738288 2019
35
NTN1 gene was risk to non-syndromic cleft lip only among Han Chinese population. 38
30506619 2019
36
Haplotype and Haplotype-Environment Interaction Analysis Revealed Roles of SPRY2 for NSCL/P among Chinese Populations. 38
30769929 2019
37
Association between concentrations of barium and aluminum in placental tissues and risk for orofacial clefts. 38
30366340 2019
38
Proportion of Orofacial Clefts Attributable to Recognized Risk Factors. 38
29727221 2019
39
Evidence for DNA methylation mediating genetic liability to non-syndromic cleft lip/palate. 38
30638414 2019
40
Presurgical Nasal Molding With a Nasal Spring in Patients With Mild-to-Moderate Nasal Deformity With Incomplete Unilateral Cleft Lip With or Without Cleft Palate. 38
29746155 2019
41
Interaction between interferon regulatory factor 6 and glycine receptor beta shows a protective effect on developing nonsyndromic cleft lip with or without cleft palate in the Han Chinese population. 38
30462859 2019
42
Gene-Gene Interactions among SPRYs for Nonsyndromic Cleft Lip/Palate. 38
30273098 2019
43
Epigenomic profiling of newborns with isolated orofacial clefts reveals widespread DNA methylation changes and implicates metastable epiallele regions in disease risk. 38
30870065 2019
44
The Role of the Wnt Signaling Pathway in Upper Jaw Development of Chick Embryo. 38
30923412 2019
45
Association of long interspersed nucleotide element-1 and interferon regulatory factor 6 methylation changes with nonsyndromic cleft lip with or without cleft palate. 38
30153397 2019
46
Understanding the participation of GREM1 polymorphisms in nonsyndromic cleft lip with or without cleft palate in the Brazilian population. 38
30402937 2019
47
MTHFR C677T polymorphism and risk of nonsyndromic cleft lip with or without cleft palate in the Moroccan population. 38
30881086 2019
48
Three-Dimensional Soft Tissue Nasal Changes After Nasoalveolar Molding and Primary Cheilorhinoplasty in Infants With Unilateral Cleft Lip and Palate. 38
29698115 2019
49
Comparative Evaluation of Esthetic Outcomes in Unilateral Cleft Lip Repair Between the Mohler and Fisher Repair Techniques: A Prospective, Randomized, Observer-Blind Study. 38
30267702 2019
50
Molecular Screening of VAX1 Gene Polymorphisms Uncovered the Genetic Heterogeneity of Nonsyndromic Orofacial Cleft Among Saudi Arabian Patients. 38
30633559 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.

Pathways for Cleft Lip with or Without Cleft Palate

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

# Super pathways Score Top Affiliating Genes
1 11.38 TP63 MSX1 IRF6 BMP4
2 11.34 TFAP2A MSX1 BMP4
3
Show member pathways
10.6 TP63 SUMO1
4 9.83 TP63 TFAP2A IRF6 ARHGAP29

GO Terms for Cleft Lip with or Without Cleft Palate

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.99 TP63 TFAP2A MSX1 IRF6 BMP4
2 regulation of transcription, DNA-templated GO:0006355 9.95 TP63 TFAP2A TBX10 SUMO1 MSX1 IRF6
3 positive regulation of transcription, DNA-templated GO:0045893 9.91 TP63 TFAP2A IRF6 FOXE1 BMP4
4 negative regulation of cell proliferation GO:0008285 9.84 TFAP2A MSX1 IRF6 BMP4
5 negative regulation of transcription by RNA polymerase II GO:0000122 9.8 TP63 TFAP2A SUMO1 MSX1 FOXE1 BMP4
6 regulation of cell differentiation GO:0045595 9.64 TFAP2A BMP4
7 embryonic cranial skeleton morphogenesis GO:0048701 9.63 TFAP2A BMP4
8 protein localization to nucleus GO:0034504 9.63 MSX1 BMP4
9 odontogenesis of dentin-containing tooth GO:0042475 9.63 TP63 MSX1 BMP4
10 positive regulation of bone mineralization GO:0030501 9.62 TFAP2A BMP4
11 positive regulation of BMP signaling pathway GO:0030513 9.62 MSX1 BMP4
12 odontogenesis GO:0042476 9.61 MSX1 BMP4
13 bone morphogenesis GO:0060349 9.61 TFAP2A MSX1
14 embryonic limb morphogenesis GO:0030326 9.61 TP63 MSX1 BMP4
15 negative regulation of DNA binding GO:0043392 9.6 SUMO1 MSX1
16 face morphogenesis GO:0060325 9.58 MSX1 CRISPLD2
17 pituitary gland development GO:0021983 9.58 MSX1 BMP4
18 hair follicle morphogenesis GO:0031069 9.57 TP63 FOXE1
19 anatomical structure formation involved in morphogenesis GO:0048646 9.56 TP63 BMP4
20 camera-type eye morphogenesis GO:0048593 9.55 NECTIN1 BMP4
21 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.52 MSX1 BMP4
22 cranial skeletal system development GO:1904888 9.49 TP63 FOXE1
23 BMP signaling pathway involved in heart development GO:0061312 9.48 MSX1 BMP4
24 embryonic forelimb morphogenesis GO:0035115 9.43 TP63 TFAP2A MSX1
25 negative regulation of transcription, DNA-templated GO:0045892 9.43 TP63 TFAP2A SUMO1 MSX1 FOXE1 BMP4
26 cloacal septation GO:0060197 9.37 TP63 BMP4
27 embryonic hindlimb morphogenesis GO:0035116 9.33 TP63 MSX1 BMP4
28 roof of mouth development GO:0060021 8.92 TFAP2A SUMO1 MSX1 FOXE1

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 GO:0003677 9.8 TP63 TFAP2A TBX10 MSX1 IRF6 FOXE1
2 DNA-binding transcription factor activity GO:0003700 9.55 TP63 TFAP2A TBX10 IRF6 FOXE1
3 transcription regulatory region DNA binding GO:0044212 9.43 TP63 TFAP2A IRF6
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.43 TP63 TFAP2A TBX10 MSX1 IRF6 FOXE1
5 sequence-specific DNA binding GO:0043565 9.02 TP63 TFAP2A MSX1 IRF6 FOXE1

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 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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