MCID: CLF001
MIFTS: 51

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:
9Disease Ontology, 11DISEASES, 43Novoseek, 27ICD9CM, 33MeSH, 55SNOMED-CT, 60UMLS, 38NCIt, 25ICD10
See all sources

Cleft Lip, Aliases & Descriptions:

Name: Cleft Lip 9 11 43
Cleft Lip, Unilateral, Complete 9
Complete Unilateral Cleft Lip 9
 
Labium Leporinum 9
Cheiloschisis 9
Hare Lip 9


Classifications:

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


External Ids:

Disease Ontology9 DOID:9296
ICD9CM27 749.1, 749.10
MeSH33 D002971
NCIt38 C87175
ICD1025 Q36

Related Diseases for Cleft Lip

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

(show top 50)    (show all 574)
idRelated DiseaseScoreTop Affiliating Genes
1ectodermal dysplasia31.8TP63
2van der woude syndrome31.6IRF6
3tooth agenesis30.9MSX1, PAX9
4hypertrophic scars30.5TGFB3, TP63
5craniosynostosis30.3FGFR1, TGFB3
6breast cancer29.8FGFR1, TGFB3, TGFA, CDH1, TP63
7cleft palate, isolated28.4CLPTM1, TGFB3, TGFA, TP63, BMP4, PAX9
8cleft lip +/- cleft palate10.8
9eec syndrome10.6
10hay-wells syndrome10.6
11holoprosencephaly10.6
12mental retardation10.6
13cleft hard palate10.5
14stickler syndrome10.5
15syndactyly10.5
16arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay10.5
17ausems wittebol-post hennekam syndrome10.5
18ectropion inferior cleft lip and or palate10.5
19microbrachycephaly ptosis cleft lip10.5
20median cleft lip/mandibule10.4
21oral leukoplakia10.4TGFA, TP63
22stomatitis10.4TGFB3
23ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 310.4
24orofaciodigital syndrome vi10.4
25acrofrontofacionasal dysostosis10.4
26juberg-hayward syndrome10.4
27microcephaly, corpus callosum dysgenesis and cleft lip-palate10.4
28cleft velum10.4
29adenosquamous carcinoma10.4TP63, TGFA
30oculodentodigital dysplasia10.4
31roberts syndrome10.4
32popliteal pterygium syndrome 110.4
33walker-warburg syndrome10.4
34coloboma, cleft lip/palate and mental retardation syndrome10.4
35hypopituitarism micropenis cleft lip palate10.4
36medeira-dennis-donnai syndrome10.4
37cleft lip/palate - deafness - sacral lipoma10.4
38auriculoocular anomalies - cleft lip10.4
39branchiooculofacial syndrome10.3
40aicardi syndrome10.3
41miller syndrome10.3
42patau syndrome10.3
43fryns syndrome10.3
44anophthalmia plus syndrome10.3
45ectrodactyly and ectodermal dysplasia without cleft lip/palate10.3
46median cleft of upper lip with polyps of facial skin and nasal mucosa10.3
47microsomia hemifacial radial defects10.3
48pallister w syndrome10.3
49pilotto syndrome10.3
50rapp-hodgkin 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:

31
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:

35 (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 Suite gene sharing:

(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 Glioblastoma36
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 Suite gene sharing:

(show all 36)
idCompoundScoreTop Affiliating Genes
1cyclopamine43 5911.0CDH1, BMP4
2multivitamin439.9TGFA, MTHFR
3chi 2439.9CDH1, MTHFR
4b 723439.8TP63, CDH1
5heparan sulfate43 2410.7FGFR1, BMP4, PVRL1
6paraffin439.7TGFB3, TGFA, TP63
7p00001439.5MTHFR, CDH1
8raloxifene43 49 28 1212.5TGFA, TGFB3, CDH1
9nickel43 2410.5CDH1, TGFA
10progestin439.5CDH1, TGFB3, TGFA
11bromodeoxyuridine439.4TP63, TGFA, BMP4, FGFR1
12gnrh439.3FGFR1, TGFB3, TGFA
13folate439.3TGFA, MTHFR, CDH1
14matrigel439.3CDH1, BMP4, TGFA, TP63
15ribonucleic acid439.2TGFA, TGFB3, BMP4, FGFR1
16tgf beta1439.2TGFA, TGFB3, BMP4, CDH1
1712-o-tetradecanoylphorbol 13-acetate439.2TGFA, PVRL1, CDH1, FGFR1
18methotrexate49 43 1211.2TGFA, MTHFR, CDH1
19azathioprine43 2 49 1212.2TGFA, MTHFR, BMP4, CDH1
205fluorouracil439.2CDH1, MTHFR, TGFB3, TGFA
21pd 98,059439.0TGFA, BMP4, CDH1, FGFR1
22ly294002439.0TGFA, BMP4, CDH1, FGFR1
23steroid439.0FGFR1, BMP4, TGFB3, TGFA, TP63
24adenylate438.9TGFA, BMP4, CDH1, FGFR1
25dopamine43 28 24 1211.9FGFR1, BMP4, MTHFR, TGFB3, TGFA
26agar438.8FGFR1, CDH1, TGFA
27glutamate438.8TP63, TGFA, MTHFR, CDH1, FGFR1
28heparin43 28 24 1211.7TGFA, MTHFR, BMP4, CDH1, FGFR1
29thymidine43 249.7TP63, TGFA, TGFB3, MTHFR, BMP4, FGFR1
30progesterone43 28 59 24 1212.6TP63, TGFA, TGFB3, BMP4, CDH1, FGFR1
31vegf438.6TP63, TGFA, TGFB3, BMP4, CDH1, FGFR1
32cysteine438.6TGFA, MTHFR, BMP4, CDH1, FGFR1
33testosterone43 59 24 1211.6TP63, TGFA, TGFB3, MTHFR, CDH1, FGFR1
34tyrosine438.3TP63, TGFA, TGFB3, PVRL1, BMP4, CDH1
35estrogen438.2TP63, TGFA, TGFB3, MTHFR, BMP4, CDH1
36retinoic acid43 249.0FGFR1, 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 Suite gene sharing:

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 Suite gene sharing:

(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:006039110.1BMP4, TGFB3
6protein localization to nucleusGO:003450410.1BMP4, MSX1
7middle ear morphogenesisGO:004247410.1MSX1, FGFR1
8positive regulation of collagen biosynthetic processGO:003296710.1TGFB3, BMP4
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:004828610.0TGFB3, BMP4
14hair follicle morphogenesisGO:00310699.9FOXE1, TP63
15positive regulation of bone mineralizationGO:00305019.9TGFB3, BMP4
16midbrain developmentGO:00309019.9MSX1, FGFR1
17pituitary gland developmentGO:00219839.8MSX1, BMP4, CDH1
18cell-cell junction organizationGO:00452169.8CDH1, PVRL1, TGFB3
19adherens junction organizationGO:00343329.8CDH1, PVRL1
20regulation of odontogenesisGO:00424819.8MSX1, PAX9
21positive regulation of mesenchymal cell proliferationGO:00020539.8TP63, FGFR1
22negative regulation of cell proliferationGO:00082859.6TGFB3, IRF6, MSX1, BMP4
23in utero embryonic developmentGO:00017019.5FGFR1, MSX1, TGFB3
24face morphogenesisGO:00603259.5TGFB3, PAX9, MSX1
25negative regulation of apoptotic processGO:00430669.5TP63, TGFA, MSX1, BMP4
26chondrocyte differentiationGO:00020629.4FGFR1, BMP4
27odontogenesisGO:00424769.4BMP4, PAX9, TGFB3
28positive regulation of transcription, DNA-templatedGO:00458938.7CDH1, BMP4, FOXE1, IRF6, TGFB3, TP63
29negative regulation of transcription from RNA polymerase II promoterGO:00001228.5TP63, MSX1, FOXE1, BMP4, TBX22, FGFR1
30negative regulation of transcription, DNA-templatedGO:00458928.3TP63, PAX9, FOXE1, BMP4, TBX22

Molecular functions related to Cleft Lip according to GeneCards Suite gene sharing:

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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet