MCID: CLF001
MIFTS: 47

Cleft Lip malady

Summaries for Cleft Lip

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64Wikipedia, 33MalaCards
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Wikipedia:64 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 ectodermal dysplasia. 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. Related mouse phenotypes are mortality/aging and craniofacial.

Aliases & Classifications for Cleft Lip

Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 35MeSH, 40NCIt, 57SNOMED-CT, 61UMLS, 27ICD9CM
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Aliases & Descriptions:

cleft lip 8 10 45
cleft lip, unilateral, complete 8
complete unilateral cleft lip 8
labium leporinum 8
cheiloschisis 8
hare lip 8


External Ids:

Disease Ontology8 DOID:9296
MeSH35 D002971
NCIt40 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 565)
idRelated DiseaseScoreTop Affiliating Genes
1cleft palate32.1PVRL1, TGFA, TP63, MSX1, CLPTM1, FGFR1
2ectodermal dysplasia31.0TP63
3syndactyly30.7TP63
4van der woude syndrome30.6IRF6
5tooth agenesis30.4IRF6, BMP4, MSX1, TGFA
6bamforth-lazarus syndrome29.9FOXE1
7ectrodactyly cleft palate syndrome10.6
8ankyloblepharon-ectodermal defects-cleft lip/palate syndrome10.5
9mental retardation10.5
10cleft palate, isolated10.5
11zlotogora syndrome10.5
12stickler syndrome10.4
13n syndrome10.4
14holoprosencephaly10.4
15arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay10.4
16ectropion inferior cleft lip and or palate10.4
17ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 310.4
18cleft hard palate10.4
19microbrachycephaly ptosis cleft lip10.4
20roberts syndrome10.3
21juberg-hayward syndrome10.3
22microcephaly, corpus callosum dysgenesis and cleft lip-palate10.3
23hartsfield syndrome10.3
24aicardi syndrome10.3
25coloboma, cleft lip/palate and mental retardation syndrome10.3
26eec syndrome10.3
27branchiooculofacial syndrome10.3
28polydactyly10.3
29fryns syndrome10.3
30acrofrontofacionasal dysostosis syndrome10.3
31amelia cleft lip palate hydrocephalus iris coloboma10.3
32anophthalmia plus syndrome10.3
33pilotto syndrome10.3
34popliteal pterygium syndrome10.3
35medeira-dennis-donnai syndrome10.3
36ectrodactyly and ectodermal dysplasia without cleft lip/palate10.3
37median cleft of upper lip with polyps of facial skin and nasal mucosa10.3
38oculodentodigital dysplasia10.3
39cleft lip, congenital healed10.3
40single median maxillary central incisor10.3
41uveal coloboma - cleft lip and palate - intellectual deficit10.3
42median cleft lip/mandibule10.3
43cleft lip/palate - deafness - sacral lipoma10.3
44cleft lip/palate - intestinal malrotation - cardiopathy10.3
45blepharo-cheilo-odontic syndrome10.3
46short stature - intellectual deficit - eye anomalies - cleft lip/palate10.3
47auriculoocular anomalies - cleft lip10.3
48aarskog-scott syndrome10.2
49coloboma10.2
50wolf-hirschhorn syndrome10.2

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



Diseases related to cleft lip

Clinical Features for Cleft Lip

Drugs & Therapeutics for Cleft Lip

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Cleft Lip

Genetic Tests for Cleft Lip

Anatomical Context for Cleft Lip

Animal Models for Cleft Lip or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Cleft Lip

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51PubMed
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Articles related to Cleft Lip:

idTitleAuthorsYear
1
Modulation of lipid metabolic defects rescues cleft palate in Tgfbr2 mutant mice. (23975680)
2014
2
Recruitment of TIP47 to lipid droplets is controlled by the putative hydrophobic cleft. (16808905)
2006
3
Lipoma of the cleft soft palate: a case report of a rare congenital anomaly. (11034034)
2000
4
Necrobiosis lipoidica: a case with prominent cholesterol clefting and transepithelial elimination. (10608254)
1999
5
Focal dermal hypoplasia syndrome with incomplete transverse facial cleft and tumour of the lips. (2920166)
1989
6
Necrobiosis lipoidica diabeticorum with cholesterol clefts in the differential diagnosis of necrobiotic xanthogranuloma. (3351060)
1988

Genetic Variations for Cleft Lip

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

Search GEO for disease gene expression data for Cleft Lip.

Pathways for genes affiliated with Cleft Lip

Sources:
52QIAGEN, 30KEGG, 38NCBI BioSystems Database, 4Cell Signaling Technology
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Compounds for genes affiliated with Cleft Lip

Sources:
45Novoseek, 24HMDB, 60Tocris Bioscience, 29IUPHAR, 11DrugBank, 50PharmGKB, 2BitterDB
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Compounds related to Cleft Lip according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1retinoic acid45 2412.5TGFB3, BMP4, MTHFR, CDH1, FGFR1, MSX1
2thymidine45 2412.3BMP4, MTHFR, FGFR1, TP63, TGFA, TGFB3
3progesterone45 60 29 11 2415.3BMP4, CDH1, FGFR1, TP63, TGFA, TGFB3
4testosterone45 60 11 2414.3MTHFR, CDH1, FGFR1, TP63, TGFA, TGFB3
5vegf4511.3BMP4, CDH1, FGFR1, TP63, TGFA, TGFB3
6azathioprine45 50 2 1114.2BMP4, MTHFR, CDH1, TGFA
7bromodeoxyuridine4511.1BMP4, FGFR1, TP63, TGFA
8heparin45 29 11 2414.1BMP4, MTHFR, CDH1, FGFR1, TGFA
9tgf beta14511.1TGFB3, TGFA, CDH1, BMP4
10dopamine45 29 11 2414.1TGFB3, TGFA, FGFR1, BMP4
115fluorouracil4511.1MTHFR, CDH1, TGFA, TGFB3
12matrigel4511.0TGFA, TP63, CDH1, BMP4
13raloxifene45 29 50 1114.0CDH1, TGFA, TGFB3
14ribonucleic acid4511.0BMP4, FGFR1, TGFA, TGFB3
1512-o-tetradecanoylphorbol 13-acetate4511.0TGFA, FGFR1, CDH1, PVRL1
16multivitamin4510.9TGFA, MTHFR
17pd 98,0594510.8BMP4, CDH1, FGFR1, TGFA
18progestin4510.8TGFB3, TGFA, CDH1
19cyclopamine45 6011.8BMP4, CDH1
20chi 24510.6CDH1, MTHFR
21ly2940024510.6TGFA, CDH1, BMP4
22steroid4510.4BMP4, TGFA, TGFB3

GO Terms for genes affiliated with Cleft Lip

Sources:
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

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