MCID: CLF002
MIFTS: 52

Cleft Palate malady

Rare diseases category

Summaries for Cleft Palate

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 Cleft lip (cheiloschisis) and cleft palate (palatoschisis), which can also occur together as cleft lip... more...

MalaCards: Cleft Palate, also known as uranostaphyloschisis, is related to cleft lip and van der woude syndrome. An important gene associated with Cleft Palate is TBX22 (T-box 22), and among its related pathways are TGF-beta/Smad Signaling and Elastic fibre formation. Affiliated tissues include bone, tongue and heart, and related mouse phenotypes are hearing/vestibular/ear and respiratory system.

Description from OMIM:48 119540

Aliases & Classifications for Cleft Palate

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9Disease Ontology, 11DISEASES, 46Novoseek, 59SNOMED-CT, 63UMLS, 41NCIt, 28ICD9CM, 48OMIM, 36MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Aliases & Descriptions:

cleft palate 9 11 46
uranostaphyloschisis 9
palatoschisis 9


External Ids:

Disease Ontology9 DOID:674
NCIt41 C87069
ICD9CM28 749.00, 749.0
OMIM48 119540
MeSH36 D002972

Related Diseases for Cleft Palate

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18GeneCards, 19GeneDecks
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Diseases in the Cleft Palate family:

Dominant Cleft Palate

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

(show top 50)    (show all 530)
idRelated DiseaseScoreTop Affiliating Genes
1cleft lip31.3TBX22, TBX10, BMP4, MTHFR, FOXE1, MSX1
2van der woude syndrome30.8IRF6
3bamforth-lazarus syndrome30.5FOXE1, HOXA2
4polydactyly30.0BMP4, MSX1
5synostosis29.9BMP4, MSX1
6cleft lip +/- cleft palate10.8
7cleft palate, isolated10.6
8mental retardation10.6
9omphalocele cleft palate syndrome lethal10.5
10ankyloblepharon filiforme adnatum cleft palate10.5
11pierre robin sequence10.5
12cleft palate lateral synechia syndrome10.5
13teratoma10.5
14submucosal cleft palate10.5
15cleft hard palate10.5
16microcephaly10.5
17stickler syndrome10.5
18middle ear disease10.5
19mesomelic dwarfism cleft palate camptodactyly10.5
20cleft velum10.5
21short stature10.4
22nasopharyngitis10.4
23otitis media10.4
24say syndrome10.4
25cleft palate with ankyloglossia10.4
26schilbach-rott syndrome10.4
27meningocele10.4
28hypervitaminosis a10.4
29klippel-feil syndrome10.4
30pseudohypoaldosteronism type ii10.4
31cleft palate stapes fixation oligodontia10.4
32cleft palate x-linked10.4
33dysmorphism cleft palate loose skin10.4
34palant cleft palate syndrome10.4
35syngnathia cleft palate10.4
36microcephaly - cleft palate10.4
37renpenning syndrome10.3
38choanal atresia10.3
39beckwith-wiedemann syndrome10.3
40spondyloepiphyseal dysplasia congenita10.3
41aase-smith syndrome10.3
42acromegaloid features, overgrowth, cleft palate and hernia10.3
43cleft palate short stature vertebral anomalies10.3
44ectrodactyly cleft palate syndrome10.3
45eec syndrome10.3
46femoral facial syndrome10.3
47growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate10.3
48hardikar syndrome10.3
49macrosomia with lethal microphthalmia10.3
50oto-palato-digital syndrome type 110.3

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



Diseases related to cleft palate

Symptoms for Cleft Palate

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48OMIM
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Clinical features from OMIM:

119540

Drugs & Therapeutics for Cleft Palate

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Cleft Palate

Drug clinical trials:

Search ClinicalTrials for Cleft Palate

Search NIH Clinical Center for Cleft Palate

Search CenterWatch for Cleft Palate

Genetic Tests for Cleft Palate

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Anatomical Context for Cleft Palate

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34MalaCards
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MalaCards organs/tissues related to Cleft Palate:

34
Bone, Tongue, Heart, Skin, Thyroid, Testes, Pituitary, Lung, Brain, Liver, Testis, Eye

Animal Models for Cleft Palate or affiliated genes

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38MGI
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Publications for Cleft Palate

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53PubMed
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Articles related to Cleft Palate:

(show top 50)    (show all 752)
idTitleAuthorsYear
1
Short mandible - a possible risk factor for cleft palate with/without a cleft lip. (24397533)
2014
2
Intraoperative high-dose epinephrine infiltration in cleft palate repair. (24406567)
2014
3
Hematological parameters in patients of cleft lip and cleft palate with special reference to eosinophil counts. (24275774)
2014
4
Submucous cleft palate: variations in bony defects of the hard palate. (23462590)
2013
5
Influence of patient age and experience of the surgeon on early complications after surgical closure of the cleft palate--a retrospective cohort study. (22841383)
2013
6
Ultrasound Echo Imaging-Guided Surgery of Particulate Cancellous Bone and Marrow From the Iliac Crest for Cleft Palate. (23786530)
2013
7
Autologous fat injection combined with palatoplasty and pharyngoplasty for velopharyngeal insufficiency and cleft palate: preliminary experience. (23702974)
2013
8
Influence of Modified Furlow Double Opposing Z-plasty on Mandibular Growth in Oriental Patients With Cleft Palate and/or Lip. (24374402)
2013
9
An insight into genetics of non-syndromic cleft palate. (23930251)
2013
10
Repair of the cocaine-induced cleft palate using the modified double-opposing z-plasty. (22264171)
2013
11
Cleft palate in a multigenerational family with a microdeletion of 20p12.3 involving BMP2. (22965927)
2012
12
Examining markers in 8q24 to explain differences in evidence for association with cleft lip with/without cleft palate between Asians and Europeans. (22508319)
2012
13
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. (22863734)
2012
14
Pre- and post-palatoplasty Eustachian tube function in infants with cleft palate. (22230559)
2012
15
Impact of 22q deletion syndrome on speech outcomes following primary surgery for submucous cleft palate. (22373999)
2012
16
Early correction of septum JJ deformity in unilateral cleft lip-cleft palate. (22929267)
2012
17
Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature. (22436304)
2012
18
Development of speech services for people with cleft palate in Thailand: lack of professionals. (23961625)
2012
19
Predictors of velopharyngeal insufficiency after Le Fort I maxillary advancement in patients with cleft palate. (21783004)
2011
20
Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate. (21567929)
2011
21
A case report of nasopharyngeal teratoma with a cleft palate and an inguinal hernia. (21524948)
2011
22
The CRISPLD2 gene is involved in cleft lip and/or cleft palate in a Chinese population. (21800413)
2011
23
New evidence for the role of cystathionine beta-synthase in non-syndromic cleft lip with or without cleft palate. (21564312)
2011
24
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
25
Folic acid rescue of ATRA-induced cleft palate by restoring the TGF-I^ signal and inhibiting apoptosis. (21481001)
2011
26
Variation in FGF1, FOXE1, and TIMP2 genes is associated with nonsyndromic cleft lip with or without cleft palate. (21462296)
2011
27
A case report of a patient with cleft palate carrying the risk of tetraplegia. (20828273)
2011
28
Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate. (20672350)
2010
29
Filipino explanatory models of cleft lip with or without cleft palate. (19860507)
2010
30
Obturator for rehabilitation of cleft palate with implant-supported retention system. (20072014)
2010
31
Susceptibility locus for non-syndromic cleft lip with or without cleft palate on chromosome 10q25 confers risk in Estonian patients. (20572868)
2010
32
Current surgical practices in cleft care: cleft palate repair techniques and postoperative care. (19730310)
2009
33
4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate. (19576302)
2009
34
Cleft palate cells can regenerate a palatal mucosa in vitro. (18650554)
2008
35
Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate. (18640039)
2008
36
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
37
Bleeding prophylaxis in a child with cleft palate and factor VII deficiency: a case report. (16405366)
2006
38
Genetic polymorphisms of GSTM1 and GSTT1 in mothers of children with isolated cleft lip with or without cleft palate]. (16521944)
2005
39
A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation. (15173243)
2004
40
Identification of SATB2 as the cleft palate gene on 2q32-q33. (12915443)
2003
41
A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. (12165566)
2002
42
MCA syndrome with renal-hepatic-pancreatic dysplasia, posterior fossa cyst, symmetrical limb deficiencies, cleft palate, cardiac and MA1llerian duct anomalies. (11807905)
2002
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
A mouse model for hereditary thyroid dysgenesis and cleft palate. (9697704)
1998
46
An overview of middle ear disease in cleft palate children. (8270210)
1993
47
Cleft lip with or without cleft palate: associations with transforming growth factor alpha and retinoic acid receptor loci. (1361101)
1992
48
Nasal aplasia associated with meningocele and submucous cleft palate. (3996279)
1985
49
Cleft palate associated with meningocele in a pup. (473549)
1979
50
The Stickler syndrome presenting as a dominantly inherited cleft palate and blindness. (1219119)
1975

Variations for Cleft Palate

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Expression for genes affiliated with Cleft Palate

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cleft Palate

Search GEO for disease gene expression data for Cleft Palate.

Pathways for genes affiliated with Cleft Palate

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51PathCards, 5Cell Signaling Technology, 56Reactome, 39NCBI BioSystems Database
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Pathways related to Cleft Palate according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4BMP4, TGFB3
2
Show member pathways
9.4BMP4, TGFB3
39.3BMP4, FOXC2

Compounds for genes affiliated with Cleft Palate

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GO Terms for genes affiliated with Cleft Palate

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17Gene Ontology
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Cellular components related to Cleft Palate according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:0056679.2FOXE1, FOXC2, MSX1, SATB2
2nucleusGO:0056346.4ARVCF, HOXA2, LHX8, TGFB3, IRF6, SATB2

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

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1lens morphogenesis in camera-type eyeGO:00208910.3FOXE1, PVRL1
2middle ear morphogenesisGO:04247410.1HOXA2, MSX1
3osteoblast developmentGO:00207610.1SATB2, HOXA2
4face morphogenesisGO:0603259.9TGFB3, MSX1
5embryonic viscerocranium morphogenesisGO:0487039.9HOXA2, FOXC2
6positive regulation of BMP signaling pathwayGO:0305139.9MSX1, BMP4
7protein localization to nucleusGO:0345049.9BMP4, MSX1
8palate developmentGO:0600219.8TGFB3, SATB2, MSX1
9pituitary gland developmentGO:0219839.8BMP4, MSX1
10cell-cell junction organizationGO:0452169.8PVRL1, TGFB3
11positive regulation of SMAD protein import into nucleusGO:0603919.7TGFB3, BMP4
12embryonic hindlimb morphogenesisGO:0351169.7MSX1, BMP4
13positive regulation of collagen biosynthetic processGO:0329679.7TGFB3, BMP4
14odontogenesis of dentin-containing toothGO:0424759.6BMP4, MSX1, LHX8
15positive regulation of pathway-restricted SMAD protein phosphorylationGO:0108629.6BMP4, TGFB3
16odontogenesisGO:0424769.6TGFB3, BMP4
17lung alveolus developmentGO:0482869.5TGFB3, BMP4
18positive regulation of bone mineralizationGO:0305019.5TGFB3, BMP4
19regulation of sequence-specific DNA binding transcription factor activityGO:0510909.4FOXE1, FOXC2
20positive regulation of endothelial cell migrationGO:0105959.3BMP4, FOXC2
21ureteric bud developmentGO:0016579.2FOXC2, BMP4
22negative regulation of cell proliferationGO:0082859.1BMP4, MSX1, IRF6, TGFB3
23transcription, DNA-templatedGO:0063518.9HOXA2, LHX8, IRF6, SATB2, TBX10, TBX22
24positive regulation of transcription, DNA-templatedGO:0458938.6TGFB3, IRF6, FOXC2, FOXE1, BMP4
25positive regulation of transcription from RNA polymerase II promoterGO:0459448.5HOXA2, TGFB3, SATB2, FOXC2, BMP4
26negative regulation of transcription from RNA polymerase II promoterGO:0001228.3TBX22, BMP4, FOXE1, FOXC2, MSX1, SATB2

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

idNameGO IDScoreTop Affiliating Genes
1DNA binding, bendingGO:0083019.7FOXE1, FOXC2
2sequence-specific DNA bindingGO:0435658.1HOXA2, LHX8, SATB2, MSX1, FOXC2, FOXE1
3sequence-specific DNA binding transcription factor activityGO:0037007.7TBX22, HOXA2, LHX8, IRF6, SATB2, FOXC2

Products for genes affiliated with Cleft Palate

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Sources for Cleft Palate

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet