MCID: CLF025
MIFTS: 32

Cleft Lip +/- Cleft Palate malady

Oral 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 palate and mental retardation. 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, 61UMLS, 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 37)
idRelated DiseaseScoreTop Affiliating Genes
1cleft palate31.4TGFB3, TP63, FGFR1, PVRL1, IRF6, FOXE1
2mental retardation30.6POMT1, FKRP, FKTN
3holoprosencephaly10.3
4smith magenis syndrome10.3
5hereditary diffuse gastric cancer10.3
6mcpherson clemens syndrome10.3
7zlotogora syndrome10.3
8diffuse gastric cancer10.3
9eec syndrome10.3
10holoprosencephaly caudal dysgenesis10.3
11neu laxova syndrome10.3
12oculomaxillofacial dysostosis10.3
13acro-cardio-facial syndrome10.3
1416p13.11 microdeletion syndrome10.3
15van der woude syndrome10.0IRF6
16muscular dystrophy10.0POMT2
17bamforth-lazarus syndrome10.0FOXE1
18ectodermal dysplasia10.0TP63
19congenital muscular dystrophy10.0LARGE
20neural tube defects10.0MTHFR
21syndactyly10.0TP63
22neuropathy10.0POMT1, FKTN, FKRP
23adult syndrome10.0TP63
24tooth agenesis10.0IRF6, BMP4, MSX1
25lissencephaly10.0POMT2, FKTN, FKRP, POMT1
26intellectual disability10.0FKTN, FKRP, POMT1, PHF8
27fukuyama type muscular dystrophy10.0POMT1, LARGE, FKTN
28synostosis10.0FGFR1, BMP4, MSX1
29muscular dystrophy-dystroglycanopathy , type a, 1410.0LARGE, FKTN, FKRP, POMT1
30limb-girdle muscular dystrophy10.0LARGE, POMT1, FKRP, FKTN
31papillary thyroid carcinoma10.0FOXE1, FGFR1, TP63
32walker-warburg syndrome10.0POMT1, FKRP, FKTN, POMT2, LARGE
33myopathy10.0POMT1, FKRP, FKTN
34hypertrophy of breast10.0TGFB3, BMP4, POMT1, FKRP
35adenoma10.0BMP4, FGFR1, TP63, MTHFR
36breast cancer10.0BMP4, MTHFR, FGFR1, TP63, TGFB3
37cleft lip10.0FGFR1, PVRL1, IRF6, FOXE1, BMP4, PHF8

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

Drugs & Therapeutics for Cleft Lip +/- Cleft Palate

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5CenterWatch, 42NIH 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

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

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37MGI, 28inGenious Targeting Laboratory
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Publications for Cleft Lip +/- Cleft Palate

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51PubMed
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Articles related to Cleft Lip +/- Cleft Palate:

idTitleAuthorsYear
1
Modulation of lipid metabolic defects rescues cleft palate in Tgfbr2 mutant mice. (23975680)
2014
2
Lipoma of the cleft soft palate: a case report of a rare congenital anomaly. (11034034)
2000

Genetic Variations for Cleft Lip +/- Cleft Palate

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

Search GEO for disease gene expression data for Cleft Lip +/- Cleft Palate.

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

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38NCBI 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

Sources:
29IUPHAR, 24HMDB, 45Novoseek, 60Tocris Bioscience, 11DrugBank
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Compounds related to Cleft Lip +/- Cleft Palate according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dolichol phosphate29 2411.2POMT1, POMT2
2cystathionine4510.0BHMT, MTHFR
3betaine45 2410.7BHMT, MTHFR
4thymidine45 2410.5BMP4, MTHFR, FGFR1, TP63, TGFB3
5progesterone45 60 29 11 2413.3BMP4, FGFR1, SUMO1, TP63, TGFB3
6testosterone45 60 11 2412.2MTHFR, FGFR1, SUMO1, TP63, TGFB3
7steroid459.1BMP4, FGFR1, SUMO1, TP63, TGFB3
8estrogen459.0BMP4, MTHFR, FGFR1, SUMO1, TP63, TGFB3
9retinoic acid45 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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet