MCID: CLF001
MIFTS: 59

Cleft Lip malady

Summaries for Cleft Lip

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63Wikipedia, 32MalaCards
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Wikipedia:63 Cleft lip (cheiloschisis) and cleft palate (palatoschisis), which can also occur together as cleft lip... more...

MalaCards: Cleft Lip, also known as cleft lip, unilateral, complete, is related to cleft palate and syndactyly. An important gene associated with Cleft Lip is TP63 (tumor protein p63), and among its related pathways are PAK Pathway and Pathways in cancer. The compounds retinoic acid and thymidine have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and skin, and related mouse phenotypes are mortality/aging and craniofacial.

Aliases & Classifications for Cleft Lip

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8Disease Ontology, 10DISEASES, 44Novoseek, 34MeSH, 39NCIt, 56SNOMED-CT, 60UMLS, 27ICD9CM
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Aliases & Descriptions:

cleft lip 8 10 44
cleft lip, unilateral, complete 8
complete unilateral cleft lip 8
labium leporinum 8
cheiloschisis 8
hare lip 8


External Ids:

Disease Ontology8 DOID:9296
MeSH34 D002971
NCIt39 C87175
ICD9CM27 749.10, 749.1

Related Diseases for Cleft Lip

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17GeneCards, 18GeneDecks
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Diseases related to Cleft Lip via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 549)
idRelated DiseaseScoreTop Affiliating Genes
1cleft palate32.1PVRL1, TGFA, TP63, MSX1, CLPTM1, FGFR1
2syndactyly30.7TP63
3van der woude syndrome30.6IRF6
4tooth agenesis30.4IRF6, BMP4, MSX1, TGFA
5congenital heart defect30.1MTHFR
6breast cancer29.9TGFB3, TGFA, TP63, FGFR1, CDH1
7bamforth-lazarus syndrome29.9FOXE1
8adult syndrome29.9TP63
9ankyloblepharon-ectodermal defects-cleft lip/palate syndrome10.6
10cleft lip +/- cleft palate10.5
11stickler syndrome10.4
12ausems wittebol-post hennekam syndrome10.4
13zlotogora syndrome10.4
14cleft hard palate10.4
15holoprosencephaly10.4
16arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay10.4
17ectropion inferior cleft lip and or palate10.4
18cleft palate and mental retardation10.4
19ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 310.4
20cleft velum10.4
21microbrachycephaly ptosis cleft lip10.4
22roberts syndrome10.3
23juberg-hayward syndrome10.3
24microcephaly, corpus callosum dysgenesis and cleft lip-palate10.3
25hartsfield syndrome10.3
26median cleft lip/mandibule10.3
27aicardi syndrome10.3
28coloboma, cleft lip/palate and mental retardation syndrome10.3
29eec syndrome10.3
30branchiooculofacial syndrome10.2
31polydactyly10.2
32gingivitis10.2
33lip cancer10.2
34orofacial cleft10.2
35fryns syndrome10.2
36acrofrontofacionasal dysostosis syndrome10.2
37amelia cleft lip palate hydrocephalus iris coloboma10.2
38anophthalmia plus syndrome10.2
39pilotto syndrome10.2
40medeira-dennis-donnai syndrome10.2
41ectrodactyly and ectodermal dysplasia without cleft lip/palate10.2
42median cleft of upper lip with polyps of facial skin and nasal mucosa10.2
43cleft lip, congenital healed10.2
44single median maxillary central incisor10.2
45uveal coloboma - cleft lip and palate - intellectual deficit10.2
46cleft lip/palate - deafness - sacral lipoma10.2
47cleft lip/palate - intestinal malrotation - cardiopathy10.2
48blepharo-cheilo-odontic syndrome10.2
49short stature - intellectual deficit - eye anomalies - cleft lip/palate10.2
50auriculoocular anomalies - cleft lip10.2

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



Diseases related to cleft lip

Clinical Features for Cleft Lip

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Drugs & Therapeutics for Cleft Lip

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Cleft Lip

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Genetic Tests for Cleft Lip

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Anatomical Context for Cleft Lip

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32MalaCards
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MalaCards organs/tissues related to Cleft Lip:

32
Bone, Heart, Skin, Testes, Brain, Kidney, Breast, Thyroid, Thymus, Pituitary

Animal Models for Cleft Lip or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Cleft Lip:

36 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:001076811.8TGFB3, PVRL1, IRF6, BMP4, MTHFR, TBX22
2MP:000538211.7TP63, TGFA, MSX1, FGFR1, TBX10, TBX22
3MP:000538111.7IRF6, TGFB3, TGFA, TP63, MSX1, BMP4
4MP:001077111.7TP63, MSX1, FGFR1, CDH1, TBX10, MTHFR
5MP:000537811.5TP63, TGFA, MSX1, FGFR1, CDH1, BMP4
6MP:000539111.5BMP4, MTHFR, TBX10, FGFR1, TP63, TGFA
7MP:000539011.4MSX1, BMP4, TBX22, FGFR1, TP63, TGFA
8MP:000287311.2TGFB3, BMP4, TBX22, TBX10, MID1, CDH1
9MP:000538011.1BMP4, MID1, CDH1, FGFR1, MSX1, TP63
10MP:000537911.0FOXE1, TGFA, BMP4, CDH1, FGFR1, TP63
11MP:000537110.9IRF6, BMP4, MSX1
12MP:000537710.6IRF6, BMP4, TBX10, FGFR1, MSX1

Publications for Cleft Lip

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50PubMed
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Articles related to Cleft Lip:

(show top 50)    (show all 913)
idTitleAuthorsYear
1
Mothers' experiences of feeding babies born with cleft lip and palate. (23607258)
2014
2
Evaluating eight newly identified susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a Mesoamerican population. (24382704)
2014
3
Oral health-related quality of life in children with cleft lip and palate. (23851861)
2013
4
ABM clinical protocol #18: guidelines for breastfeeding infants with cleft lip, cleft palate, or cleft lip and palate, revised 2013. (23886478)
2013
5
Proper size of endotracheal tube for cleft lip and palate patients and intubation outcomes. (23489881)
2013
6
Comparative study of nasoalveolar molding methods: nasal elevator plus DynaCleftAr versus NAM-Grayson in patients with complete unilateral cleft lip and palate. (22906392)
2013
7
Analysis and treatment of cleft lip nasal and palate deformity. (23891198)
2013
8
Presurgical nasoalveolar molding for cleft lip and palate. (23852252)
2013
9
Otitis media with effusion in children with cleft lip and palate: a narrative review. (23931986)
2013
10
Spectral analysis of word-initial alveolar and velar plosives produced by Iranian children with cleft lip and palate. (23339528)
2013
11
Anatomical closure technique of the nasal floor for patients with complete unilateral cleft lip and palate. (23547535)
2013
12
MSX1 gene polymorphisms in non-syndromic cleft lip and/or palate. (23130753)
2013
13
No evidence for increased risk of cleft lip or cleft palate among infants exposed to antiretroviral drugs during pregnancy in the antiretroviral pregnancy registry. (22424135)
2013
14
Descriptive epidemiology of cleft lip and cleft palate in Western Australia. (23371924)
2013
15
Transforming growth factor-beta3 gene polymorphisms and nonsyndromic cleft lip and palate risk: a meta-analysis. (24053560)
2013
16
Types of articulation errors in individuals with cleft lip and palate. (24386746)
2013
17
Recovering the personal identity of an elderly patient with cleft lip: a case report. (22943775)
2012
18
Discussion: Current surgical management of bilateral cleft lip in North America. (22634651)
2012
19
Expression and mutation analyses implicate ARHGAP29 as the etiologic gene for the cleft lip with or without cleft palate locus identified by genome-wide association on chromosome 1p22. (23008150)
2012
20
Corneal changes in ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome: case series and literature review. (22618129)
2012
21
Evaluating SKI as a candidate gene for non-syndromic cleft lip with or without cleft palate. (22984993)
2012
22
Nature of feeding practices among children with cleft lip and palate. (22565517)
2012
23
Ideal treatment protocol for cleft lip and palate patient from mixed to permanent dentition. (22449594)
2012
24
Timing of palate repair affecting growth in complete unilateral cleft lip and palate. (22484231)
2012
25
Maxillary protraction in adult cleft lip and palate by a rigid external distraction device with dentoskeletal anchorage. (22509125)
2012
26
Cleft lip in oculodentodigital dysplasia suggests novel roles for connexin43. (22699666)
2012
27
Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate. (21567929)
2011
28
No association between polymorphisms in cubilin, a gene of the homocysteine metabolism and the risk of non-syndromic cleft lip with or without cleft palate. (21781439)
2011
29
Reoperations in cleft lip and cleft palate treatment. (21272773)
2011
30
The final orthodontic treatment outcome evaluation in patients with cleft lip and palate at Khon Kaen University Cleft Lip and Palate Center: a pilot study. (22423411)
2011
31
Quality of life in patients with cleft lip and palate after operation. (22423427)
2011
32
Changing patterns in demography of cleft lip-cleft palate deformities in a developing country: the Smile Train effect--what lies ahead? (21200226)
2011
33
Susceptibility locus for non-syndromic cleft lip with or without cleft palate on chromosome 10q25 confers risk in Estonian patients. (20572868)
2010
34
CRISPLD2 polymorphisms are associated with non-syndromic cleft lip with or without cleft palate in a northern Chinese population. (20662919)
2010
35
Parent-of-origin effects for MSX1 in a Chilean population with nonsyndromic cleft lip/palate. (20635363)
2010
36
Oral findings in ankyloblepharon-ectodermal dysplasia-cleft lip/palate (AEC) syndrome. (19681142)
2009
37
Further evidence for the involvement of MYH9 in the etiology of non-syndromic cleft lip with or without cleft palate. (19320731)
2009
38
Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip. (18836445)
2008
39
Sequence evaluation of FGF and FGFR gene conserved non-coding elements in non-syndromic cleft lip and palate cases. (17963255)
2007
40
Polymorphisms in genes MTHFR, MTR and MTRR are not risk factors for cleft lip/palate in South Brazil. (17581676)
2007
41
MSX1 mutations contribute to nonsyndromic cleft lip in a Thai population. (16868654)
2006
42
Giant Meckel's diverticulum associated with oesophageal atresia, tracheo-oesophageal fistula and cleft lip and palate. (15517233)
2005
43
Medical Sequencing of Candidate Genes for Nonsyndromic Cleft Lip and Palate. (16327884)
2005
44
Bilateral cleft lip and palate associated with increased nuchal translucency and maternal cocaine abuse at 14 weeks of gestation. (12854855)
2003
45
Holoprosencephaly, bilateral cleft lip and palate and ectrodactyly: another case and follow up. (14564207)
2003
46
Role of the C677T polymorphism at the MTHFR gene on risk to nonsyndromic cleft lip with/without cleft palate: results from a case-control study in Brazil. (10533038)
1999
47
Candidate genes for nonsyndromic cleft lip and palate and maternal cigarette smoking and alcohol consumption: evaluation of genotype-environment interactions from a population-based case-control study of orofacial clefts. (9988882)
1999
48
Ectodermal dysplasia, cleft lip/palate, and severe cutaneous and osseous syndactyly in a mentally retarded girl: a new multiple malformation syndrome. (9188655)
1997
49
A unilateral cleft lip patient with holoprosencephaly. (9262780)
1997
50
Median cleft of the upper lip in association with frontonasal meningocele, left aniridia and lenticular opacity. (3084825)
1986

Genetic Variations for Cleft Lip

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Expression for genes affiliated with Cleft Lip

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cleft Lip

Search GEO for disease gene expression data for Cleft Lip.

Pathways for genes affiliated with Cleft Lip

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51QIAGEN, 29KEGG, 37NCBI BioSystems Database, 4Cell Signaling Technology
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Compounds for genes affiliated with Cleft Lip

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44Novoseek, 24HMDB, 59Tocris Bioscience, 28IUPHAR, 11DrugBank, 49PharmGKB, 2BitterDB
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Compounds related to Cleft Lip according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1retinoic acid44 2412.5TGFB3, BMP4, MTHFR, CDH1, FGFR1, MSX1
2thymidine44 2412.3BMP4, MTHFR, FGFR1, TP63, TGFA, TGFB3
3progesterone44 59 28 11 2415.3BMP4, CDH1, FGFR1, TP63, TGFA, TGFB3
4testosterone44 59 11 2414.3MTHFR, CDH1, FGFR1, TP63, TGFA, TGFB3
5vegf4411.3BMP4, CDH1, FGFR1, TP63, TGFA, TGFB3
6azathioprine44 49 2 1114.2BMP4, MTHFR, CDH1, TGFA
7bromodeoxyuridine4411.1BMP4, FGFR1, TP63, TGFA
8heparin44 28 11 2414.1BMP4, MTHFR, CDH1, FGFR1, TGFA
9tgf beta14411.1TGFB3, TGFA, CDH1, BMP4
10dopamine44 28 11 2414.1TGFB3, TGFA, FGFR1, BMP4
115fluorouracil4411.1MTHFR, CDH1, TGFA, TGFB3
12matrigel4411.0TGFA, TP63, CDH1, BMP4
13raloxifene44 28 49 1114.0CDH1, TGFA, TGFB3
14ribonucleic acid4411.0BMP4, FGFR1, TGFA, TGFB3
1512-o-tetradecanoylphorbol 13-acetate4411.0TGFA, FGFR1, CDH1, PVRL1
16multivitamin4410.9TGFA, MTHFR
17pd 98,0594410.8BMP4, CDH1, FGFR1, TGFA
18progestin4410.8TGFB3, TGFA, CDH1
19cyclopamine44 5911.8BMP4, CDH1
20chi 24410.6CDH1, MTHFR
21ly2940024410.6TGFA, CDH1, BMP4
22steroid4410.4BMP4, TGFA, TGFB3

GO Terms for genes affiliated with Cleft Lip

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16Gene Ontology
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Biological processes related to Cleft Lip according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of transcription, DNA-dependentGO:04589311.3TGFB3, TP63, CDH1, PHF8, BMP4, FOXE1
2negative regulation of transcription from RNA polymerase II promoterGO:00012211.2TP63, MSX1, FOXE1, FGFR1, TBX22, BMP4
3odontogenesis of dentin-containing toothGO:04247510.9MSX1, TP63, BMP4
4cell-cell junction organizationGO:04521610.9PVRL1, CDH1, TGFB3
5cloacal septationGO:06019710.8TP63, BMP4
6positive regulation of SMAD protein import into nucleusGO:06039110.7TGFB3, BMP4
7keratinocyte proliferationGO:04361610.7TP63, IRF6
8positive regulation of collagen biosynthetic processGO:03296710.7BMP4, TGFB3
9smooth muscle tissue developmentGO:04874510.6TP63, BMP4
10lens morphogenesis in camera-type eyeGO:00208910.4PVRL1, FOXE1

Molecular functions related to Cleft Lip according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA binding transcription factor activityGO:00370011.0TP63, MSX1, TBX10, TBX22, FOXE1, IRF6

Products for genes affiliated with Cleft Lip

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Sources for Cleft Lip

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet