MCID: CLF027
MIFTS: 36

Cleft Palate, Isolated malady

Genetic diseases, Oral diseases, Fetal diseases, Rare diseases categories

Summaries for Cleft Palate, Isolated

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OMIM:45 Cleft palate as an isolated malformation behaves as an entity distinct from cleft lip with or without cleft palate (see... (119540) more...

MalaCards based summary: Cleft Palate, Isolated, also known as cleft palate, is related to cleft lip +/- cleft palate and mental retardation, and has symptoms including non-midline cleft lip, autosomal dominant inheritance and cleft palate. An important gene associated with Cleft Palate, Isolated is UBB (ubiquitin B). Related mouse phenotype endocrine/exocrine gland.

Aliases & Classifications for Cleft Palate, Isolated

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Sources:
45OMIM, 20GeneTests, 22GTR, 9Disease Ontology, 11DISEASES, 43Novoseek, 47Orphanet, 55SNOMED-CT, 38NCIt, 60UMLS, 27ICD9CM, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Cleft Palate, Isolated, Aliases & Descriptions:

Name: Cleft Palate, Isolated 45 20 22
Cleft Palate 9 11 43 47
 
Uranostaphyloschisis 9
Palatoschisis 9


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Oral diseases


Characteristics (Orphanet epidemiological data):

47
cleft palate:
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-5/10000 (Europe),1-5/10000 (Austria),1-5/10000 (Belgium),1-5/10000 (Croatia),>1/1000 (Denmark),1-5/10000 (France),1-5/10000 (Germany),6-9/10000 (Hungary),1-5/10000 (Ireland),1-5/10000 (Italy),6-9/10000 (Malta),1-5/10000 (Netherlands),6-9/10000 (Norway),1-5/10000 (Poland),1-5/10000 (Portugal),1-5/10000 (Spain),1-5/10000 (Switzerland),6-9/10000 (United Kingdom),1-5/10000 (Ukraine); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy


External Ids:

OMIM45 119540
Disease Ontology9 DOID:674
NCIt38 C87069
ICD9CM27 749.00, 749.0
MeSH33 D002972
Orphanet47 2014
MESH via Orphanet34 D002972
ICD10 via Orphanet26 Q35.1, Q35.3, Q35.5 Q35.7, Q35.9, more
UMLS via Orphanet61 C0008925

Related Diseases for Cleft Palate, Isolated

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Diseases related to Cleft Palate, Isolated via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 626)
idRelated DiseaseScoreTop Affiliating Genes
1cleft lip +/- cleft palate10.7
2mental retardation10.6
3cleft palate lateral synechia syndrome10.6
4van der woude syndrome10.6
5omphalocele cleft palate syndrome lethal10.6
6mandibulofacial dysostosis, guion-almeida type10.5
7ankyloblepharon filiforme adnatum cleft palate10.5
8mesomelic dwarfism cleft palate camptodactyly10.5
9stickler syndrome10.5
10submucosal cleft palate10.5
11hypotelorism cleft palate hypospadias10.5
12cleft hard palate10.5
13syngnathia cleft palate10.5
14microcephaly10.5
15klippel-feil syndrome10.5
16middle ear disease10.5
17say syndrome10.5
18teratoma10.5
19acromegaloid features, overgrowth, cleft palate, and hernia10.4
20renpenning syndrome10.4
21microtia, hearing impairment, and cleft palate10.4
22cleft palate with ankyloglossia10.4
23nasopharyngitis10.4
24otitis media10.4
25aase-smith syndrome10.4
26cleft palate short stature vertebral anomalies10.4
27dysmorphism cleft palate loose skin10.4
28ectrodactyly cleft palate syndrome10.4
29parc syndrome10.4
30microcephaly - cleft palate10.4
31cleft velum10.4
32pseudohypoaldosteronism, type iie10.4
33treacher collins syndrome 110.4
34abruzzo-erickson syndrome10.4
35diamond-blackfan anemia10.4
36cleft palate stapes fixation oligodontia10.4
37cleft palate x-linked10.4
38palant cleft palate syndrome10.4
39x-linked cleft palate and ankyloglossia10.4
40diastrophic dysplasia10.4
41beckwith-wiedemann syndrome10.4
42native american myopathy10.4
43popliteal pterygium syndrome 110.4
44sed congenita10.4
45meningocele10.4
46hypervitaminosis a10.4
47walker-warburg syndrome10.4
48hardikar syndrome10.4
49macrosomia with lethal microphthalmia10.4
50nasopharyngeal teratoma10.4

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



Diseases related to cleft palate, isolated

Symptoms for Cleft Palate, Isolated

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Symptoms by clinical synopsis from OMIM:

119540

Clinical features from OMIM:

119540

Symptoms:

 47
  • cleft lip and palate
  • lateral cleft lip/gingival cleft/paramedian nasal cleft

HPO human phenotypes related to Cleft Palate, Isolated:

(show all 9)
id Description Frequency HPO Source Accession
1 non-midline cleft lip occasional (7.5%) HP:0100335
2 autosomal dominant inheritance HP:0000006
3 cleft palate HP:0000175
4 gingival overgrowth HP:0000212
5 micrognathia HP:0000347
6 seizures HP:0001250
7 intellectual disability, profound HP:0002187
8 anterior open-bite malocclusion HP:0009102
9 overbite HP:0011094

Drugs & Therapeutics for Cleft Palate, Isolated

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Drug clinical trials:

Search ClinicalTrials for Cleft Palate, Isolated

Search NIH Clinical Center for Cleft Palate, Isolated

Genetic Tests for Cleft Palate, Isolated

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Genetic tests related to Cleft Palate, Isolated:

id Genetic test Affiliating Genes
1 Cleft Palate, Isolated20 22

Anatomical Context for Cleft Palate, Isolated

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Animal Models for Cleft Palate, Isolated or affiliated genes

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MGI Mouse Phenotypes related to Cleft Palate, Isolated:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053799.1UBB, SATB2

Publications for Cleft Palate, Isolated

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Variations for Cleft Palate, Isolated

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Expression for genes affiliated with Cleft Palate, Isolated

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Search GEO for disease gene expression data for Cleft Palate, Isolated.

Pathways for genes affiliated with Cleft Palate, Isolated

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Compounds for genes affiliated with Cleft Palate, Isolated

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GO Terms for genes affiliated with Cleft Palate, Isolated

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Biological processes related to Cleft Palate, Isolated according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription, DNA-templatedGO:00063519.1UBB, SATB2
2negative regulation of transcription from RNA polymerase II promoterGO:00001229.0UBB, SATB2
3positive regulation of transcription from RNA polymerase II promoterGO:00459448.8UBB, SATB2

Products for genes affiliated with Cleft Palate, Isolated

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Cleft Palate, Isolated

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet