MCID: CLF025
MIFTS: 36

Cleft Lip +/- Cleft Palate malady

Oral diseases category

Summaries for Cleft Lip +/- Cleft Palate

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MalaCards: Cleft Lip +/- Cleft Palate, also known as cleft palate with cleft lip, is related to cleft lip and cleft palate. An important gene associated with Cleft Lip +/- Cleft Palate is TP63 (tumor protein p63), and among its related pathways are TP53 network and Neural Crest Differentiation. The compounds dolichol phosphate and cystathionine have been mentioned in the context of this disorder. Related mouse phenotypes are limbs/digits/tail and hearing/vestibular/ear.

Aliases & Classifications for Cleft Lip +/- Cleft Palate

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20GeneTests, 60UMLS, 25ICD10
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Related Diseases for Cleft Lip +/- Cleft Palate

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

(show all 38)
idRelated DiseaseScoreTop Affiliating Genes
1cleft lip31.4FGFR1, PVRL1, IRF6, FOXE1, BMP4, PHF8
2cleft palate31.4TGFB3, TP63, FGFR1, PVRL1, IRF6, FOXE1
3cleft hard palate10.4
4cleft velum10.4
5holoprosencephaly10.2
6lip cancer10.2
7periodontitis10.2
8hereditary diffuse gastric cancer10.2
9waardenburg syndrome type i10.2
10mcpherson clemens syndrome10.2
11eec syndrome10.2
12oculomaxillofacial dysostosis10.2
13triopia10.2
14acro-cardio-facial syndrome10.2
1516p13.11 microdeletion syndrome10.2
16van der woude syndrome10.0IRF6
17muscular dystrophy10.0POMT2
18bamforth-lazarus syndrome10.0FOXE1
19ectodermal dysplasia10.0TP63
20congenital muscular dystrophy10.0LARGE
21neural tube defects10.0MTHFR
22syndactyly10.0TP63
23mental retardation10.0POMT1, FKRP, FKTN
24neuropathy10.0POMT1, FKTN, FKRP
25adult syndrome10.0TP63
26tooth agenesis10.0IRF6, BMP4, MSX1
27lissencephaly10.0POMT2, FKTN, FKRP, POMT1
28intellectual disability10.0FKTN, FKRP, POMT1, PHF8
29fukuyama type muscular dystrophy10.0POMT1, LARGE, FKTN
30synostosis10.0FGFR1, BMP4, MSX1
31muscular dystrophy-dystroglycanopathy , type a, 1410.0LARGE, FKTN, FKRP, POMT1
32limb-girdle muscular dystrophy10.0LARGE, POMT1, FKRP, FKTN
33papillary thyroid carcinoma10.0FOXE1, FGFR1, TP63
34walker-warburg syndrome10.0POMT1, FKRP, FKTN, POMT2, LARGE
35myopathy10.0POMT1, FKRP, FKTN
36hypertrophy of breast10.0TGFB3, BMP4, POMT1, FKRP
37adenoma10.0BMP4, FGFR1, TP63, MTHFR
38breast cancer10.0BMP4, MTHFR, FGFR1, TP63, TGFB3

Graphical network of the top 20 diseases related to Cleft Lip +/- Cleft Palate:



Diseases related to cleft lip +/- cleft palate

Clinical Features for Cleft Lip +/- Cleft Palate

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Drugs & Therapeutics for Cleft Lip +/- Cleft Palate

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Genetic Tests for Cleft Lip +/- Cleft Palate

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20GeneTests
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Genetic tests related to Cleft Lip +/- Cleft Palate:

id Genetic test Affiliating Genes
1 Cleft Lip +/- Cleft Palate20 TP63

Anatomical Context for Cleft Lip +/- Cleft Palate

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Animal Models for Cleft Lip +/- Cleft Palate or affiliated genes

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36MGI
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Publications for Cleft Lip +/- Cleft Palate

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Genetic Variations for Cleft Lip +/- Cleft Palate

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Expression for genes affiliated with Cleft Lip +/- Cleft Palate

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

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Pathways for genes affiliated with Cleft Lip +/- Cleft Palate

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37NCBI BioSystems Database
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Pathways related to Cleft Lip +/- Cleft Palate according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0TP63, SUMO1
29.7MSX1, FGFR1, BMP4

Compounds for genes affiliated with Cleft Lip +/- Cleft Palate

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28IUPHAR, 24HMDB, 44Novoseek, 59Tocris Bioscience, 11DrugBank
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Compounds related to Cleft Lip +/- Cleft Palate according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dolichol phosphate28 2411.2POMT1, POMT2
2cystathionine4410.0BHMT, MTHFR
3betaine44 2410.7BHMT, MTHFR
4thymidine44 2410.5BMP4, MTHFR, FGFR1, TP63, TGFB3
5progesterone44 59 28 11 2413.3BMP4, FGFR1, SUMO1, TP63, TGFB3
6testosterone44 59 11 2412.2MTHFR, FGFR1, SUMO1, TP63, TGFB3
7steroid449.1BMP4, FGFR1, SUMO1, TP63, TGFB3
8estrogen449.0BMP4, MTHFR, FGFR1, SUMO1, TP63, TGFB3
9retinoic acid44 249.9TGFB3, TP63, SUMO1, MSX1, FGFR1, MTHFR

GO Terms for genes affiliated with Cleft Lip +/- Cleft Palate

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16Gene Ontology
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Cellular components related to Cleft Lip +/- Cleft Palate according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056347.9TGFB3, FOXE1, PHF8, TBX22, BAG4, FKTN

Biological processes related to Cleft Lip +/- Cleft Palate according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1methionine biosynthetic processGO:00908610.3BHMT, MTHFR
2cloacal septationGO:06019710.3TP63, BMP4
3keratinocyte proliferationGO:04361610.1IRF6, TP63
4smooth muscle tissue developmentGO:04874510.1BMP4, TP63
5glycoprotein biosynthetic processGO:00910110.1FKRP, LARGE
6positive regulation of SMAD protein import into nucleusGO:06039110.1TGFB3, BMP4
7odontogenesis of dentin-containing toothGO:04247510.0TP63, MSX1, BMP4
8positive regulation of collagen biosynthetic processGO:03296710.0TGFB3, BMP4
9lens morphogenesis in camera-type eyeGO:0020899.8PVRL1, FOXE1
10negative regulation of transcription, DNA-dependentGO:0458929.5FOXE1, BMP4, TBX22, SUMO1, TP63
11positive regulation of transcription, DNA-dependentGO:0458939.5TGFB3, TP63, PHF8, BMP4, FOXE1, IRF6
12negative regulation of transcription from RNA polymerase II promoterGO:0001229.4FOXE1, BMP4, TBX22, FGFR1, MSX1, TP63
13negative regulation of cell proliferationGO:0082859.2TGFB3, FKTN, BMP4, IRF6

Molecular functions related to Cleft Lip +/- Cleft Palate according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1dolichyl-phosphate-mannose-protein mannosyltransferase activityGO:00416910.1POMT1, POMT2

Products for genes affiliated with Cleft Lip +/- Cleft Palate

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Sources for Cleft Lip +/- Cleft Palate

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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