MCID: CLF002
MIFTS: 52

Cleft Palate malady

Rare diseases category
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Summaries for Cleft Palate

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Wikipedia:65 Cleft lip (cheiloschisis) and cleft palate (palatoschisis), which can also occur together as cleft lip... more...

MalaCards based summary: Cleft Palate, also known as uranostaphyloschisis, is related to van der woude syndrome and bamforth-lazarus 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:46 119540

Aliases & Classifications for Cleft Palate

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Sources:
8Disease Ontology, 10DISEASES, 44Novoseek, 46OMIM, 57SNOMED-CT, 27ICD9CM, 62UMLS, 39NCIt, 34MeSH
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Cleft Palate, Aliases & Descriptions:

Name: Cleft Palate 8 10 44
Uranostaphyloschisis 8
 
Palatoschisis 8


Classifications:

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


External Ids:

Disease Ontology8 DOID:674
OMIM46 119540
ICD9CM27 749.0, 749.00
NCIt39 C87069
MeSH34 D002972

Related Diseases for Cleft Palate

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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 534)
idRelated DiseaseScoreTop Affiliating Genes
1van der woude syndrome31.1IRF6
2bamforth-lazarus syndrome30.7FOXE1, HOXA2
3cleft lip30.2TGFB3, TBX22, TBX10, BMP4, MTHFR, FOXE1
4polydactyly30.0MSX1, BMP4
5synostosis29.8BMP4, MSX1
6cleft lip +/- cleft palate10.8
7cleft palate, isolated10.6
8mental retardation10.6
9omphalocele cleft palate syndrome lethal10.5
10pierre robin sequence10.5
11ankyloblepharon filiforme adnatum cleft palate10.5
12teratoma10.5
13cleft palate lateral synechia syndrome10.5
14submucosal cleft palate10.5
15cleft hard palate10.5
16stickler syndrome10.5
17microcephaly10.5
18mesomelic dwarfism cleft palate camptodactyly10.5
19cleft velum10.5
20nasopharyngitis10.4
21middle ear disease10.4
22otitis media10.4
23say syndrome10.4
24short stature10.4
25cleft palate with ankyloglossia10.4
26syngnathia cleft palate10.4
27ectrodactyly cleft palate syndrome10.4
28meningocele10.4
29hypervitaminosis a10.4
30klippel-feil syndrome10.4
31pseudohypoaldosteronism type ii10.4
32aase-smith syndrome10.4
33cleft palate stapes fixation oligodontia10.4
34cleft palate x-linked10.4
35dysmorphism cleft palate loose skin10.4
36hardikar syndrome10.4
37macrosomia with lethal microphthalmia10.4
38palant cleft palate syndrome10.4
39nasopharyngeal teratoma10.4
40schilbach-rott syndrome10.4
41microcephaly - cleft palate10.4
42beckwith-wiedemann syndrome10.3
43spondyloepiphyseal dysplasia congenita10.3
44choanal atresia10.3
45renpenning syndrome10.3
46acromegaloid features, overgrowth, cleft palate and hernia10.3
47cleft palate short stature vertebral anomalies10.3
48eec syndrome10.3
49femoral facial syndrome10.3
50growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate10.3

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



Diseases related to cleft palate

Symptoms for Cleft Palate

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Clinical features from OMIM:

119540

Drugs & Therapeutics for Cleft Palate

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Drug clinical trials:

Search ClinicalTrials for Cleft Palate

Search NIH Clinical Center for Cleft Palate

Genetic Tests for Cleft Palate

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Anatomical Context for Cleft Palate

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MalaCards organs/tissues related to Cleft Palate:

32
Bone, Tongue, Heart, Thyroid, Skin, Lung, Testes, Pituitary, Eye, Brain, Liver, Testis

Animal Models for Cleft Palate or affiliated genes

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Publications for Cleft Palate

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Articles related to Cleft Palate:

(show top 50)    (show all 776)
idTitleAuthorsYear
1
Acquired middle ear cholesteatoma in children with cleft palate: experience from 18 surgical cases. (24690221)
2014
2
Short mandible - a possible risk factor for cleft palate with/without a cleft lip. (24397533)
2014
3
Intraoperative high-dose epinephrine infiltration in cleft palate repair. (24406567)
2014
4
Is a polymorphism in 10q25 associated with non-syndromic cleft lip with or without cleft palate? A meta-analysis based on limited evidence. (25300891)
2014
5
Hematological parameters in patients of cleft lip and cleft palate with special reference to eosinophil counts. (24275774)
2014
6
Submucous cleft palate: variations in bony defects of the hard palate. (23462590)
2013
7
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
8
Ultrasound Echo Imaging-Guided Surgery of Particulate Cancellous Bone and Marrow From the Iliac Crest for Cleft Palate. (23786530)
2013
9
Autologous fat injection combined with palatoplasty and pharyngoplasty for velopharyngeal insufficiency and cleft palate: preliminary experience. (23702974)
2013
10
Influence of Modified Furlow Double Opposing Z-plasty on Mandibular Growth in Oriental Patients With Cleft Palate and/or Lip. (24374402)
2013
11
An insight into genetics of non-syndromic cleft palate. (23930251)
2013
12
Repair of the cocaine-induced cleft palate using the modified double-opposing z-plasty. (22264171)
2013
13
Cleft palate in a multigenerational family with a microdeletion of 20p12.3 involving BMP2. (22965927)
2012
14
Examining markers in 8q24 to explain differences in evidence for association with cleft lip with/without cleft palate between Asians and Europeans. (22508319)
2012
15
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. (22863734)
2012
16
Pre- and post-palatoplasty Eustachian tube function in infants with cleft palate. (22230559)
2012
17
Early correction of septum JJ deformity in unilateral cleft lip-cleft palate. (22929267)
2012
18
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
19
Development of speech services for people with cleft palate in Thailand: lack of professionals. (23961625)
2012
20
Predictors of velopharyngeal insufficiency after Le Fort I maxillary advancement in patients with cleft palate. (21783004)
2011
21
Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate. (21567929)
2011
22
A case report of nasopharyngeal teratoma with a cleft palate and an inguinal hernia. (21524948)
2011
23
The CRISPLD2 gene is involved in cleft lip and/or cleft palate in a Chinese population. (21800413)
2011
24
New evidence for the role of cystathionine beta-synthase in non-syndromic cleft lip with or without cleft palate. (21564312)
2011
25
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
26
Folic acid rescue of ATRA-induced cleft palate by restoring the TGF-I^ signal and inhibiting apoptosis. (21481001)
2011
27
Variation in FGF1, FOXE1, and TIMP2 genes is associated with nonsyndromic cleft lip with or without cleft palate. (21462296)
2011
28
A case report of a patient with cleft palate carrying the risk of tetraplegia. (20828273)
2011
29
Genetic variants in COL2A1, COL11A2, and IRF6 contribute risk to nonsyndromic cleft palate. (20672350)
2010
30
Filipino explanatory models of cleft lip with or without cleft palate. (19860507)
2010
31
Obturator for rehabilitation of cleft palate with implant-supported retention system. (20072014)
2010
32
Susceptibility locus for non-syndromic cleft lip with or without cleft palate on chromosome 10q25 confers risk in Estonian patients. (20572868)
2010
33
Current surgical practices in cleft care: cleft palate repair techniques and postoperative care. (19730310)
2009
34
4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate. (19576302)
2009
35
Cleft palate cells can regenerate a palatal mucosa in vitro. (18650554)
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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Expression patterns in normal tissues for genes affiliated with Cleft Palate

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Pathways for genes affiliated with Cleft Palate

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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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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:00208910.3PVRL1, FOXE1
2middle ear morphogenesisGO:04247410.1HOXA2, MSX1
3osteoblast developmentGO:00207610.1SATB2, HOXA2
4face morphogenesisGO:0603259.9MSX1, TGFB3
5embryonic viscerocranium morphogenesisGO:0487039.9HOXA2, FOXC2
6positive regulation of BMP signaling pathwayGO:0305139.9BMP4, MSX1
7protein localization to nucleusGO:0345049.9BMP4, MSX1
8palate developmentGO:0600219.8MSX1, SATB2, TGFB3
9pituitary gland developmentGO:0219839.8MSX1, BMP4
10cell-cell junction organizationGO:0452169.8PVRL1, TGFB3
11embryonic hindlimb morphogenesisGO:0351169.7MSX1, BMP4
12positive regulation of SMAD protein import into nucleusGO:0603919.7BMP4, TGFB3
13positive regulation of collagen biosynthetic processGO:0329679.7BMP4, TGFB3
14odontogenesis of dentin-containing toothGO:0424759.6MSX1, LHX8, BMP4
15positive regulation of pathway-restricted SMAD protein phosphorylationGO:0108629.6BMP4, TGFB3
16odontogenesisGO:0424769.6BMP4, TGFB3
17positive regulation of bone mineralizationGO:0305019.6TGFB3, BMP4
18lung alveolus developmentGO:0482869.5TGFB3, BMP4
19regulation of sequence-specific DNA binding transcription factor activityGO:0510909.4FOXC2, FOXE1
20positive regulation of endothelial cell migrationGO:0105959.3FOXC2, BMP4
21ureteric bud developmentGO:0016579.2FOXC2, BMP4
22negative regulation of cell proliferationGO:0082859.1MSX1, IRF6, TGFB3, BMP4
23transcription, DNA-templatedGO:0063518.9IRF6, TBX10, TBX22, HOXA2, SATB2, LHX8
24positive regulation of transcription, DNA-templatedGO:0458938.6FOXE1, BMP4, IRF6, TGFB3, FOXC2
25positive regulation of transcription from RNA polymerase II promoterGO:0459448.5BMP4, FOXC2, SATB2, TGFB3, HOXA2
26negative regulation of transcription from RNA polymerase II promoterGO:0001228.3TBX22, HOXA2, SATB2, MSX1, FOXC2, FOXE1

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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet