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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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:001076811.8MTHFR, BMP4, FOXE1, IRF6, PVRL1, TBX22
2MP:000538211.7TGFB3, PVRL1, IRF6, FOXE1, BMP4, TBX22
3MP:000538111.7TBX22, BMP4, FOXE1, IRF6, TBX10, CDH1
4MP:001077111.7BMP4, FOXE1, IRF6, PVRL1, MTHFR, TBX10
5MP:000537811.5PVRL1, IRF6, BMP4, MTHFR, TBX10, MID1
6MP:000539111.5PVRL1, BMP4, MTHFR, TBX10, FGFR1, MSX1
7MP:000539011.4IRF6, BMP4, MTHFR, TBX22, FGFR1, MSX1
8MP:000287311.2BMP4, TBX22, TBX10, MID1, CDH1, FGFR1
9MP:000538011.1TGFB3, TP63, MSX1, FGFR1, CDH1, MID1
10MP:000537911.0FOXE1, BMP4, CDH1, FGFR1, MSX1, 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
Short mandible - a possible risk factor for cleft palate with/without a cleft lip. (24397533)
2014
2
Three-dimensional tooth crown size symmetry in cleft lip and cleft palate. (24423204)
2014
3
Association between gingival recession and proclination of maxillary central incisors near the cleft in patients with unilateral cleft lip and palate: A retrospective case-control study. (23452970)
2013
4
A de novo 1.38 Mb duplication of 1q31.1 in a boy with hemifacial microsomia, anophthalmia, anotia, macrostomia, and cleft lip and palate. (23312528)
2013
5
Craniofacial characteristics in unilateral complete cleft lip and palate patients with congenitally missing teeth. (23992810)
2013
6
The incidence of cleft lip and palate in the Czech Republic in 1994-2008. (23944624)
2013
7
Evaluation of the intercanine distance in newborns with cleft lip and palate using 3D digital casts. (24212990)
2013
8
Long-term outcome of secondary alveolar bone grafting in cleft lip and palate patients: a 10-year follow-up cohort study. (23621098)
2013
9
Repair of bilateral incomplete cleft lip: techniques and outcomes. (23783057)
2013
10
Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele. (23161355)
2013
11
Cleft lip/palate associated with 17p13.3 duplication involving a single candidate gene (YWHAE). (23901910)
2013
12
A Long-Term Clinical and Cephalometric Study of Cleft Lip and Palate Patients Following Intraoral Maxillary Quadrangular Le Fort I Osteotomy. (24378122)
2013
13
Three-Dimensional Assessment of Facial Appearance Following Surgical Repair of Unilateral Cleft Lip and Palate. (23369016)
2013
14
transportMYpatient: an initiative to overcome the barrier of transport costs for patients accessing treatment for obstetric fistulae and cleft lip in Tanzania. (22431823)
2012
15
Rehabilitative treatment of cleft lip and palate: experience of the Hospital for Rehabilitation of Craniofacial Anomalies-USP (HRAC-USP)--part 3: oral and maxillofacial surgery. (23329251)
2012
16
The combination of modified small forked flap and Tajima incision in the reconstruction of bilateral cleft lip nasal deformities. (23190858)
2012
17
A classification model for infant cries with hearing impairment and unilateral cleft lip and palate. (23182951)
2012
18
Dental anomalies associated with unilateral and bilateral cleft lip and palate. (22828761)
2012
19
Cleft lip as a presentation of congenital syphilis. (22529458)
2012
20
The long-term changes of hard palatal bony cleft defects after palatoplasty in unilateral complete cleft lip and palate. (22817881)
2012
21
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate (EEC) syndrome without clefting: a rare case report. (22398226)
2012
22
Association studies of candidate genes and cleft lip and palate taking into consideration geographical origin. (22112025)
2011
23
Accuracy of prenatal three-dimensional ultrasound in the diagnosis of cleft hard palate when cleft lip is present. (21936003)
2011
24
Contribution of 6p24 to non-syndromic cleft lip and palate in a Malay population: association of variants in OFC1. (21297019)
2011
25
Magnetic resonance imaging for detection of brain abnormalities in fetuses with cleft lip and/or cleft palate. (20815717)
2011
26
Influence of the primary cleft palate closure on the future need for orthognathic surgery in unilateral cleft lip and palate patients. (20856058)
2010
27
Genome-wide and interaction linkage scan for nonsyndromic cleft lip with or without cleft palate in two multiplex families in Shenyang, China. (21112484)
2010
28
Association between bone morphogenetic protein 4 gene polymorphisms with nonsyndromic cleft lip with or without cleft palate in a chilean population. (19839778)
2010
29
Maternal polymorphisms in folic acid metabolic genes are associated with nonsyndromic cleft lip and/or palate in the Brazilian population. (20890936)
2010
30
Replication of novel susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24 in Estonian and Lithuanian patients. (19839039)
2009
31
FOXE1 association with both isolated cleft lip with or without cleft palate, and isolated cleft palate. (19779022)
2009
32
Association of muscle segment homeobox gene 1 polymorphisms with nonsyndromic cleft lip with or without cleft palate]. (18705505)
2008
33
Association of transforming growth factor-alpha gene polymorphism and environment factors with nonsyndromic cleft lip with or without cleft palate in Han nationality]. (17629209)
2007
34
Neuroprotective peptides prevent some alcohol-induced alteration in gamma-aminobutyric acid A-beta3, which plays a role in cleft lip and palate and learning in fetal alcohol syndrome. (17346546)
2007
35
Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations. (17438386)
2007
36
Study of folate receptor genes in nonsyndromic familial and sporadic cleft lip with or without cleft palate cases. (15690375)
2005
37
Mutation analysis of CLPTM 1 and PVRL 1 genes in patients with non-syndromic clefts of lip, alveolus and palate. (16122939)
2005
38
Duplication (22)(q11.22-q11.23) without coloboma and cleft lip or palate. (12654079)
2003
39
A case of lateral facial cleft, cleft lip and palate, anophthalmia, microtia, clavicular agenesis and asternia. (7551163)
1995
40
Association between alleles of the transforming growth factor alpha locus and cleft lip and palate in the Chilean population. (7573126)
1995
41
Anencephaly with spinal dysraphism, cleft lip and palate and limb reduction defects. (7981865)
1994
42
The association of cleft lip and palate with Aicardi syndrome. (8115518)
1994
43
Leptomeningeal angiomatosis, absent olfactory tracts, hypoplasia of the cerebellar vermis, cleft lip and palate and congenital heart disease in a stillborn infant. (1342866)
1992
44
Anaesthetic problems in a child with ectrodactyly, ectodermal dysplasia and cleft lip/palate. The EEC syndrome. (1539782)
1992
45
Van der Woude syndrome and nonsyndromic cleft lip and palate. (1642245)
1992
46
Bilateral ectopic thymus gland tissue associated with the cleft lip and palate. (2748765)
1989
47
A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly-syndactyly: acro-fronto-facio-nasal dysostosis syndrome. (2986457)
1985
48
Brief clinical report: syndrome of acrofacial dysostosis, cleft lip/palate, and triphalangeal thumb in a Brazilian family. (6837626)
1983
49
Median cleft lip, polydactyly, syndactyly and toe anomalies in a non-Indian infant. (6313104)
1983
50
Treatment of median cleft lip associated with bifid nose and hypertelorism. (14405033)
1959

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

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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, IRF6, FOXE1, BMP4, PHF8, CDH1
2negative regulation of transcription from RNA polymerase II promoterGO:00012211.2FOXE1, BMP4, TBX22, FGFR1, MSX1, TP63
3odontogenesis of dentin-containing toothGO:04247510.9BMP4, MSX1, TP63
4cell-cell junction organizationGO:04521610.9TGFB3, CDH1, PVRL1
5cloacal septationGO:06019710.8TP63, BMP4
6positive regulation of SMAD protein import into nucleusGO:06039110.7TGFB3, BMP4
7smooth muscle tissue developmentGO:04874510.7BMP4, TP63
8positive regulation of collagen biosynthetic processGO:03296710.7TGFB3, BMP4
9keratinocyte proliferationGO:04361610.6IRF6, TP63
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