MCID: CLF001
MIFTS: 59

Cleft Lip malady

Oral diseases category

Summaries for Cleft Lip

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MalaCards based summary: Cleft Lip, also known as cleft lip, unilateral, complete, is related to ectodermal dysplasia and van der woude syndrome. An important gene associated with Cleft Lip is TP63 (tumor protein p63), and among its related pathways are Nectin adhesion pathway and Glypican 1 network. The compounds cyclopamine and multivitamin have been mentioned in the context of this disorder. Affiliated tissues include bone, heart and skin, and related mouse phenotypes are hearing/vestibular/ear and nervous system.

Aliases & Classifications for Cleft Lip

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Sources:
10Disease Ontology, 12DISEASES, 45Novoseek, 29ICD9CM, 35MeSH, 57SNOMED-CT, 62UMLS, 40NCIt, 27ICD10
See all sources

Cleft Lip, Aliases & Descriptions:

Name: Cleft Lip 10 12 45
Cleft Lip, Unilateral, Complete 10
Complete Unilateral Cleft Lip 10
 
Labium Leporinum 10
Cheiloschisis 10
Hare Lip 10


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Oral diseases


External Ids:

Disease Ontology10 DOID:9296
ICD9CM29 749.1, 749.10
MeSH35 D002971
NCIt40 C87175
ICD1027 Q36

Related Diseases for Cleft Lip

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

(show top 50)    (show all 574)
idRelated DiseaseScoreTop Affiliating Genes
1ectodermal dysplasia31.2TP63
2van der woude syndrome31.0IRF6
3tooth agenesis30.5MSX1, PAX9
4cleft palate, isolated30.4CLPTM1, TGFB3, TGFA, TP63, BMP4, PAX9
5hypertrophic scars30.0TGFB3, TP63
6craniosynostosis30.0FGFR1, TGFB3
7breast cancer29.9FGFR1, TGFB3, TGFA, CDH1, TP63
8cleft lip +/- cleft palate10.8
9eec syndrome10.6
10hay-wells syndrome10.6
11holoprosencephaly10.6
12mental retardation10.6
13ausems wittebol-post hennekam syndrome10.5
14cleft hard palate10.5
15stickler syndrome10.5
16syndactyly10.5
17arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay10.5
18ectropion inferior cleft lip and or palate10.5
19microbrachycephaly ptosis cleft lip10.5
20orofaciodigital syndrome vi10.4
21acrofrontofacionasal dysostosis10.4
22juberg-hayward syndrome10.4
23median cleft lip/mandibule10.4
24cleft velum10.4
25ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 310.4
26branchiooculofacial syndrome10.4
27oculodentodigital dysplasia10.4
28roberts syndrome10.4
29popliteal pterygium syndrome 110.4
30walker-warburg syndrome10.4
31coloboma, cleft lip/palate and mental retardation syndrome10.4
32medeira-dennis-donnai syndrome10.4
33microcephaly, corpus callosum dysgenesis and cleft lip-palate10.4
34aicardi syndrome10.3
35miller syndrome10.3
36patau syndrome10.3
37fryns syndrome10.3
38anophthalmia plus syndrome10.3
39hypopituitarism micropenis cleft lip palate10.3
40median cleft of upper lip with polyps of facial skin and nasal mucosa10.3
41microsomia hemifacial radial defects10.3
42pallister w syndrome10.3
43pilotto syndrome10.3
44cleft lip/palate - deafness - sacral lipoma10.3
45auriculoocular anomalies - cleft lip10.3
46rapp-hodgkin syndrome10.3
47hartsfield syndrome10.3
48orofaciodigital syndrome iv10.3
49hemifacial microsomia10.3
50hydrolethalus syndrome10.3

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



Diseases related to cleft lip

Symptoms for Cleft Lip

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Drugs & Therapeutics for Cleft Lip

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Drug clinical trials:

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Search NIH Clinical Center for Cleft Lip

Genetic Tests for Cleft Lip

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Anatomical Context for Cleft Lip

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MalaCards organs/tissues related to Cleft Lip:

33
Bone, Heart, Skin, Kidney, Brain, Breast, Testes, Thymus, Thyroid, Pituitary

Animal Models for Cleft Lip or affiliated genes

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MGI Mouse Phenotypes related to Cleft Lip:

37 (show all 20)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.3BMP4, FGFR1, MSX1, IRF6, TBX10, PAX9
2MP:00036318.3BMP4, TGFB3, MSX1, MID1, TBX10, FGFR1
3MP:00053858.0TGFB3, TGFA, MSX1, CDH1, FGFR1, BMP4
4MP:00053888.0TBX22, MSX1, PAX9, TGFB3, TP63, BMP4
5MP:00053917.9BMP4, TP63, MSX1, MTHFR, TGFB3, TBX10
6MP:00053697.8MID1, PAX9, TGFA, FGFR1, BMP4, MSX1
7MP:00053767.8MTHFR, BMP4, CDH1, FOXE1, PVRL1, MSX1
8MP:00053717.7BMP4, MTHFR, FGFR1, MSX1, IRF6, PAX9
9MP:00053807.6TGFB3, TP63, BMP4, CDH1, MSX1, PAX9
10MP:00053897.6BMP4, MTHFR, CDH1, PAX9, TP63, TGFA
11MP:00053867.6TGFB3, PAX9, PVRL1, MSX1, BMP4, MID1
12MP:00053847.5TBX22, CDH1, FGFR1, BMP4, IRF6, TP63
13MP:00053797.2CDH1, FGFR1, BMP4, FOXE1, MSX1, TGFA
14MP:00028737.0TP63, PAX9, MID1, TBX10, CDH1, TBX22
15MP:00107717.0PVRL1, IRF6, TGFA, TP63, MSX1, FOXE1
16MP:00053906.6TP63, PAX9, TGFA, TBX22, BMP4, MTHFR
17MP:00053786.4MTHFR, BMP4, MID1, TP63, TGFA, PAX9
18MP:00053826.0TGFB3, FOXE1, FGFR1, TBX22, TBX10, BMP4
19MP:00053815.8TGFB3, PAX9, TGFA, BMP4, TP63, CDH1
20MP:00107685.5MSX1, PVRL1, IRF6, PAX9, TGFB3, TP63

Publications for Cleft Lip

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Articles related to Cleft Lip:

(show top 50)    (show all 942)
idTitleAuthorsYear
1
The philtrum in cleft lip: review of anatomy and techniques for construction. (24240763)
2014
2
Short mandible - a possible risk factor for cleft palate with/without a cleft lip. (24397533)
2014
3
"It Doesn't All Just Stop at 18": Psychological Adjustment and Support Needs of Adults Born With Cleft Lip and/or Palate. (25372550)
2014
4
Center of cleft lip-cleft palate and craniofacial deformities, Khon Kaen University in association with "Tawanchai Project" and Faculty of Medicine, Khon Kaen University. (25816529)
2014
5
Tooth lengths of the permanent upper incisors in patients with cleft lip and palate determined with cone beam computed tomography. (22428573)
2013
6
Self-image perception of 171 children and adolescents with cleft lip and palate from 22 countries. (23789006)
2013
7
Bilateral submandibular gland aplasia with hypertrophy of the sublingual glands of a patient with a cleft lip and palate: case report. (24036837)
2013
8
Craniofacial cephalometric morphology and later need for orthognathic surgery in 6-year-old children with bilateral cleft lip and palate. (23477626)
2013
9
Facial attractiveness of patients with unilateral cleft lip and palate and of controls assessed by laypersons and professionals. (23832974)
2013
10
Three-dimensional analysis of the pharyngeal airway morphology in growing Japanese girls with and without cleft lip and palate. (22449605)
2012
11
Current surgical management of bilateral cleft lip in North America. (22634650)
2012
12
Interaction between IRF6 and TGFA genes contribute to the risk of nonsyndromic cleft lip/palate. (23029012)
2012
13
Examining markers in 8q24 to explain differences in evidence for association with cleft lip with/without cleft palate between Asians and Europeans. (22508319)
2012
14
Recovering the personal identity of an elderly patient with cleft lip: a case report. (22943775)
2012
15
Preliminary study of Korean orthodontic residents' current concepts and knowledge of cleft lip and palate management. (23112940)
2012
16
Cleft lip and palate: an objective measure outcome study. (22842412)
2012
17
Africa has unique and urgent barriers to cleft care: lessons from practitioners at the Pan-African Congress on Cleft Lip and Palate. (22826739)
2012
18
Maxillary advancement with conventional orthognathic surgery in patients with cleft lip and palate: is it a stable technique? (22677329)
2012
19
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. (22863734)
2012
20
Stress-coping and cortisol analysis in patients with non-syndromic cleft lip and palate: an explorative study. (22911731)
2012
21
The comparison of psychological adjustment of patients with cleft lip and palate after maxillary distraction osteogenesis and conventional orthognathic surgery. (23083956)
2012
22
A microduplication of the Rubinstein-Taybi region on 16p13.3 in a girl with a bilateral complete cleft lip and palate and severe mental retardation. (22664659)
2012
23
Effectiveness of pre-surgical infant orthopedic treatment for cleft lip and palate patients: a systematic review and meta-analysis. (23020693)
2012
24
Early correction of septum JJ deformity in unilateral cleft lip-cleft palate. (22929267)
2012
25
Perceptual speech assessment after maxillary advancement osteotomy in patients with a repaired cleft lip and palate. (22783526)
2012
26
Early dental arch relationships as treatment outcome in children with complete unilateral cleft lip and palate in northeastern Thailand. (22423417)
2011
27
Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate. (21567929)
2011
28
New evidence for the role of cystathionine beta-synthase in non-syndromic cleft lip with or without cleft palate. (21564312)
2011
29
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
30
Variation in FGF1, FOXE1, and TIMP2 genes is associated with nonsyndromic cleft lip with or without cleft palate. (21462296)
2011
31
Do you know this syndrome? Ectrodactyly - ectodermal dysplasia - cleft lip/palate(EEC) syndrome. (20944926)
2010
32
Filipino explanatory models of cleft lip with or without cleft palate. (19860507)
2010
33
Relationship of nonsyndromic cleft lip and/or palate and poliovirus receptor-related 1 exon 3 polymorphisms in Han people of Jiangzhe area]. (19408722)
2009
34
Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip. (19249007)
2009
35
Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients. (19676059)
2009
36
Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate. (18640039)
2008
37
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
38
Genetic evidence for the role of loci at 19q13 in cleft lip and palate. (16740910)
2006
39
Genetic polymorphisms of GSTM1 and GSTT1 in mothers of children with isolated cleft lip with or without cleft palate]. (16521944)
2005
40
A case of Yunis-Varon syndrome complicated with complete cleft lip and palate. (14755473)
2004
41
Osseointegrated implants in the oral rehabilitation of a patient with cleft lip and palate and ectodermal dysplasia: a case report. (15623068)
2004
42
Identification of a stop codon mutation in the CBFA1 runt domain from a patient with cleidocranial dysplasia and cleft lip. (11459326)
2001
43
Possible relationship between the van der Woude syndrome (vWS) locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P). (11746036)
2001
44
Transforming growth factor-alpha (TGFA): genomic structure, boundary sequences, and mutation analysis in nonsyndromic cleft lip/palate and cleft palate only. (10552925)
1999
45
Anencephaly with spinal dysraphism, cleft lip and palate and limb reduction defects. (7981865)
1994
46
Cleft lip with or without cleft palate: associations with transforming growth factor alpha and retinoic acid receptor loci. (1361101)
1992
47
Discordant anencephaly with a cleft lip and palate in a pergonal-induced triplet pregnancy. (1453300)
1992
48
Antecubital pterygium and cleft lip/palate presenting as signs of the nail-patella syndrome: report of a Brazilian family. (2012138)
1991
49
Aicardi syndrome with holoprosencephaly and cleft lip and palate. (3508052)
1987
50
FAMILIAL ALOBAR HOLOPROSENCEPHALY (ARHINENCEPHALY) WITH MEDIAN CLEFT LIP AND PALATE. REPORT OF PATIENT WITH 46 CHROMOSOMES. (14079950)
1963

Variations for Cleft Lip

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Expression for genes affiliated with Cleft Lip

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Search GEO for disease gene expression data for Cleft Lip.

Pathways for genes affiliated with Cleft Lip

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Pathways related to Cleft Lip according to GeneCards/GeneDecks:

(show all 21)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8CDH1, PVRL1
29.7FGFR1, TGFB3
39.4CDH1, FGFR1, PVRL1
49.4TGFB3, BMP4, CDH1
59.2FGFR1, TGFB3, TGFA
6
Show member pathways
Signaling Pathways in Glioblastoma38
9.1FGFR1, CDH1, TGFA
79.0BMP4, FGFR1, CDH1, MSX1
89.0PAX9, BMP4, TGFB3
9
Show member pathways
8.9BMP4, TGFA, TGFB3, FGFR1
10
Show member pathways
8.9TGFA, TGFB3, BMP4, FGFR1
11
Show member pathways
8.9FGFR1, BMP4, TGFB3, TGFA
12
Show member pathways
8.9FGFR1, BMP4, TGFB3, TGFA
13
Show member pathways
8.9TGFB3, TGFA, BMP4, FGFR1
14
Show member pathways
8.9TGFB3, FGFR1, TGFA, BMP4
15
Show member pathways
8.9TGFB3, BMP4, TGFA, FGFR1
16
Show member pathways
8.9TGFB3, BMP4, FGFR1, TGFA
178.4FGFR1, CDH1, BMP4, TGFB3, TGFA
18
Show member pathways
8.4CDH1, TGFA, TGFB3, FGFR1, BMP4
19
Show member pathways
8.4CDH1, TGFA, BMP4, FGFR1, TGFB3
20
Show member pathways
8.4BMP4, CDH1, FGFR1, TGFB3, TGFA
21
Show member pathways
8.2TGFB3, TGFA, FGFR1, CDH1, BMP4, PVRL1

Compounds for genes affiliated with Cleft Lip

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Compounds related to Cleft Lip according to GeneCards/GeneDecks:

(show all 36)
idCompoundScoreTop Affiliating Genes
1cyclopamine45 6111.0CDH1, BMP4
2multivitamin459.9TGFA, MTHFR
3chi 2459.9CDH1, MTHFR
4b 723459.8TP63, CDH1
5heparan sulfate45 2610.7FGFR1, BMP4, PVRL1
6paraffin459.7TGFB3, TGFA, TP63
7p00001459.5MTHFR, CDH1
8raloxifene45 51 30 1312.5TGFA, TGFB3, CDH1
9nickel45 2610.5CDH1, TGFA
10progestin459.5CDH1, TGFB3, TGFA
11bromodeoxyuridine459.4TP63, TGFA, BMP4, FGFR1
12gnrh459.3FGFR1, TGFB3, TGFA
13folate459.3TGFA, MTHFR, CDH1
14matrigel459.3CDH1, BMP4, TGFA, TP63
15ribonucleic acid459.2TGFA, TGFB3, BMP4, FGFR1
16tgf beta1459.2TGFA, TGFB3, BMP4, CDH1
1712-o-tetradecanoylphorbol 13-acetate459.2TGFA, PVRL1, CDH1, FGFR1
18methotrexate51 45 1311.2TGFA, MTHFR, CDH1
19azathioprine45 3 51 1312.2TGFA, MTHFR, BMP4, CDH1
205fluorouracil459.2CDH1, MTHFR, TGFB3, TGFA
21pd 98,059459.0TGFA, BMP4, CDH1, FGFR1
22ly294002459.0TGFA, BMP4, CDH1, FGFR1
23steroid459.0FGFR1, BMP4, TGFB3, TGFA, TP63
24adenylate458.9TGFA, BMP4, CDH1, FGFR1
25dopamine45 30 26 1311.9FGFR1, BMP4, MTHFR, TGFB3, TGFA
26agar458.8FGFR1, CDH1, TGFA
27glutamate458.8TP63, TGFA, MTHFR, CDH1, FGFR1
28heparin45 30 26 1311.7TGFA, MTHFR, BMP4, CDH1, FGFR1
29thymidine45 269.7TP63, TGFA, TGFB3, MTHFR, BMP4, FGFR1
30progesterone45 30 61 26 1312.6TP63, TGFA, TGFB3, BMP4, CDH1, FGFR1
31vegf458.6TP63, TGFA, TGFB3, BMP4, CDH1, FGFR1
32cysteine458.6TGFA, MTHFR, BMP4, CDH1, FGFR1
33testosterone45 61 26 1311.6TP63, TGFA, TGFB3, MTHFR, CDH1, FGFR1
34tyrosine458.3TP63, TGFA, TGFB3, PVRL1, BMP4, CDH1
35estrogen458.2TP63, TGFA, TGFB3, MTHFR, BMP4, CDH1
36retinoic acid45 269.0FGFR1, TP63, TGFA, TGFB3, MSX1, MTHFR

GO Terms for genes affiliated with Cleft Lip

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Cellular components related to Cleft Lip according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:00056679.5FOXE1, MSX1, TP63
2cell-cell adherens junctionGO:00059139.5CDH1, PVRL1
3nucleusGO:00056346.2FGFR1, TP63, TGFA, TGFB3, PAX9, IRF6

Biological processes related to Cleft Lip according to GeneCards/GeneDecks:

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1cloacal septationGO:006019710.3BMP4, TP63
2keratinocyte proliferationGO:004361610.3TP63, IRF6
3smooth muscle tissue developmentGO:004874510.2TP63, BMP4
4positive regulation of BMP signaling pathwayGO:003051310.2BMP4, MSX1
5positive regulation of SMAD protein import into nucleusGO:006039110.1TGFB3, BMP4
6protein localization to nucleusGO:003450410.1BMP4, MSX1
7middle ear morphogenesisGO:004247410.1MSX1, FGFR1
8positive regulation of collagen biosynthetic processGO:003296710.1BMP4, TGFB3
9lens morphogenesis in camera-type eyeGO:000208910.1FOXE1, PVRL1
10embryonic hindlimb morphogenesisGO:003511610.0MSX1, BMP4
11odontogenesis of dentin-containing toothGO:004247510.0TP63, MSX1, BMP4
12positive regulation of pathway-restricted SMAD protein phosphorylationGO:001086210.0TGFB3, BMP4
13lung alveolus developmentGO:004828610.0BMP4, TGFB3
14hair follicle morphogenesisGO:00310699.9FOXE1, TP63
15positive regulation of bone mineralizationGO:00305019.9TGFB3, BMP4
16midbrain developmentGO:00309019.9MSX1, FGFR1
17pituitary gland developmentGO:00219839.8CDH1, BMP4, MSX1
18cell-cell junction organizationGO:00452169.8CDH1, PVRL1, TGFB3
19adherens junction organizationGO:00343329.8CDH1, PVRL1
20regulation of odontogenesisGO:00424819.8PAX9, MSX1
21positive regulation of mesenchymal cell proliferationGO:00020539.8TP63, FGFR1
22negative regulation of cell proliferationGO:00082859.6BMP4, MSX1, IRF6, TGFB3
23in utero embryonic developmentGO:00017019.5FGFR1, MSX1, TGFB3
24face morphogenesisGO:00603259.5MSX1, PAX9, TGFB3
25negative regulation of apoptotic processGO:00430669.5TP63, BMP4, TGFA, MSX1
26chondrocyte differentiationGO:00020629.4FGFR1, BMP4
27odontogenesisGO:00424769.4BMP4, PAX9, TGFB3
28positive regulation of transcription, DNA-templatedGO:00458938.7TGFB3, TP63, IRF6, FOXE1, BMP4, CDH1
29negative regulation of transcription from RNA polymerase II promoterGO:00001228.5FGFR1, BMP4, FOXE1, MSX1, TP63, TBX22
30negative regulation of transcription, DNA-templatedGO:00458928.3TP63, FOXE1, BMP4, PAX9, TBX22

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

idNameGO IDScoreTop Affiliating Genes
1cell adhesion molecule bindingGO:00508399.8CDH1, PVRL1
2growth factor activityGO:00080839.0BMP4, TGFB3, TGFA
3sequence-specific DNA binding transcription factor activityGO:00037008.5TP63, TBX22, TBX10, FOXE1, IRF6
4DNA bindingGO:00036777.8TBX22, IRF6, TBX10, FOXE1, PAX9, TP63
5protein bindingGO:00055156.7BMP4, CDH1, PVRL1, IRF6, PAX9, CLPTM1

Products for genes affiliated with Cleft Lip

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Sources for Cleft Lip

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet