MCID: CHN065
MIFTS: 33

Choanal Atresia, Posterior malady

Categories: Genetic diseases, Respiratory diseases, Smell/Taste diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Choanal Atresia, Posterior

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Sources:
11Disease Ontology, 13DISEASES, 24GeneTests, 26GTR, 29ICD10, 30ICD10 via Orphanet, 31ICD9CM, 38MeSH, 39MESH via Orphanet, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Choanal Atresia, Posterior:

Name: Choanal Atresia, Posterior 51 24 38
Choanal Atresia 11 53 26 49 38 13 67
Posterior Choanal Atresia 11 26
 
Imperforate Nares 11
Atresia of Nares 11
Pca 24

Characteristics:

Orphanet epidemiological data:

53
choanal atresia:
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe),1-9/100000 (Austria),1-5/10000 (Belgium),1-5/10000 (Denmark),1-5/10000 (France),1-9/100000 (Germany),1-5/10000 (Hungary),1-9/100000 (Ireland),1-9/100000 (Italy),1-5/10000 (Netherlands),1-9/100000 (Norway),1-9/100000 (Poland),1-9/100000 (Spain),1-5/10000 (Switzerland),1-9/100000 (United Kingdom),1-9/100000 (Ukraine); Age of onset: Childhood,Infancy,Neonatal

Classifications:



External Ids:

OMIM51 608911
Disease Ontology11 DOID:9574
ICD1029 Q30.0
ICD9CM31 748.0
Orphanet53 ORPHA137914
UMLS via Orphanet68 C0008297
ICD10 via Orphanet30 Q30.0
MESH via Orphanet39 D002754

Summaries for Choanal Atresia, Posterior

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MalaCards based summary: Choanal Atresia, Posterior, also known as choanal atresia, is related to imperforate anus and choanal atresia and lymphedema. An important gene associated with Choanal Atresia, Posterior is FOXE1 (Forkhead Box E1). Related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Description from OMIM:51 608911

Related Diseases for Choanal Atresia, Posterior

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Diseases related to Choanal Atresia, Posterior via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 90)
idRelated DiseaseScoreTop Affiliating Genes
1imperforate anus29.4CHD7, EFTUD2, SHH
2choanal atresia and lymphedema12.5
3arhinia, choanal atresia, and microphthalmia12.2
4choanal atresia, bilateral12.2
5radial ray hypoplasia with choanal atresia12.1
6choanal atresia, unilateral12.1
7choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome12.0
8charge syndrome12.0
9intractable diarrhea-choanal atresia-eye anomalies syndrome11.9
10burn-mckeown syndrome11.9
11posterior cortical atrophy11.7
12coffin-siris syndrome11.3
13mandibulofacial dysostosis, guion-almeida type11.1
14bamforth-lazarus syndrome11.0
15amyloidosis, primary localized cutaneous, 111.0
16lymphocele10.3CHD7, FOXE1
17prostate cancer10.3
18prostatitis10.3
19acrofacial dysostosis 1, nager type10.1EFTUD2, TXNL4A
20heart disease10.1
21tempi syndrome10.1CHD7, SHH
22chromosomal deletion syndrome10.1EFTUD2, TXNL4A
23nasopharyngitis10.1
24esophagitis10.0
25mental retardation, autosomal recessive 4610.0EFTUD2, TXNL4A
26cornelia de lange syndrome 510.0CHD7, SHH
27ectodermal dysplasia10.0
28esophageal atresia10.0
29cardiomyopathy, dilated, 2b9.9CHD7, FOXE1
30nasopharyngeal carcinoma9.9
31eec syndrome9.9
32polydactyly9.9
33dysostosis9.9
34thyroiditis9.9
35birth defects9.9
36encephalocele9.9
37moyamoya disease9.9
38cerebritis9.9
39dysautonomia, familial9.8FGFR2, FOXE1, SHH
40myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency9.8FGFR2, FOXE1, TBX22
41pycnodysostosis9.7
42achondroplasia9.7
43apert syndrome9.7
44costello syndrome9.7
45gastroesophageal reflux9.7
46pierre robin syndrome9.7
47laryngomalacia9.7
48jejunal atresia9.7
49syngnathia9.7
50dk phocomelia syndrome9.7

Graphical network of the top 20 diseases related to Choanal Atresia, Posterior:



Diseases related to choanal atresia, posterior

Symptoms for Choanal Atresia, Posterior

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Clinical features from OMIM:

608911

Drugs & Therapeutics for Choanal Atresia, Posterior

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Choanal Atresia, Posterior


Cochrane evidence based reviews: choanal atresia

Genetic Tests for Choanal Atresia, Posterior

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Genetic tests related to Choanal Atresia, Posterior:

id Genetic test Affiliating Genes
1 Choanal Atresia26
2 Choanal Atresia, Posterior26 24

Anatomical Context for Choanal Atresia, Posterior

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Animal Models for Choanal Atresia, Posterior or affiliated genes

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MGI Mouse Phenotypes related to Choanal Atresia, Posterior:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.0ATP8A2, CHD7, FAM20C, FGFR2, SHH
2MP:00053828.8CHD7, FAM20C, FGFR2, FOXE1, SHH, TBX22
3MP:00053718.8CHD2, CHD7, FAM20C, FGFR2, SHH
4MP:00053888.6CHD2, CHD7, FGFR2, SHH, TBX22
5MP:00053818.2ATP8A2, CHD7, FAM20C, FGFR2, FOXE1, SHH
6MP:00053908.1CHD2, CHD7, FAM20C, FGFR2, SHH, TBX22
7MP:00053797.9ATP8A2, CHD2, CHD7, FAM20C, FGFR2, FOXE1
8MP:00053787.3ATP8A2, CHD2, CHD7, FAM20C, FGFR2, FOXE1
9MP:00053917.3ATP8A2, CHD2, CHD7, FAM20C, FGFR2, SHH
10MP:00107686.9ATP8A2, CHD2, CHD7, EFTUD2, FAM20C, FGFR2

Publications for Choanal Atresia, Posterior

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Variations for Choanal Atresia, Posterior

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Copy number variations for Choanal Atresia, Posterior from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1160272221180000024300000Microdeletionchoanal atresia

Expression for genes affiliated with Choanal Atresia, Posterior

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Search GEO for disease gene expression data for Choanal Atresia, Posterior.

Pathways for genes affiliated with Choanal Atresia, Posterior

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GO Terms for genes affiliated with Choanal Atresia, Posterior

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Biological processes related to Choanal Atresia, Posterior according to GeneCards Suite gene sharing:

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1embryonic organ morphogenesisGO:004856210.4FGFR2, FOXE1
2regulation of fibroblast growth factor receptor signaling pathwayGO:004003610.3FAM20C, FGFR2
3thyroid gland developmentGO:003087810.2FOXE1, SHH
4prostate epithelial cord elongationGO:006052310.2FGFR2, SHH
5embryonic digestive tract morphogenesisGO:004855710.2FGFR2, SHH
6lung lobe morphogenesisGO:006046310.1FGFR2, SHH
7epithelial cell proliferation involved in salivary gland morphogenesisGO:006066410.1FGFR2, SHH
8thymus developmentGO:004853810.1FOXE1, SHH
9limb developmentGO:006017310.1CHD7, SHH
10embryonic organ developmentGO:004856810.1FGFR2, SHH
11embryonic hindlimb morphogenesisGO:003511610.1CHD7, SHH
12branching involved in prostate gland morphogenesisGO:006044210.1FGFR2, SHH
13camera-type eye developmentGO:004301010.1CHD7, SHH
14cell fate commitmentGO:004516510.0FGFR2, SHH
15odontogenesisGO:004247610.0FGFR2, SHH
16positive regulation of cell divisionGO:005178110.0FGFR2, SHH
17limb bud formationGO:006017410.0FGFR2, SHH
18branching involved in salivary gland morphogenesisGO:006044510.0FGFR2, SHH
19positive regulation of mesenchymal cell proliferationGO:00020539.9FGFR2, SHH
20mesenchymal cell proliferation involved in lung developmentGO:00609169.9FGFR2, SHH
21embryonic pattern specificationGO:00098809.9FGFR2, SHH
22positive regulation of Wnt signaling pathwayGO:00301779.9FGFR2, SHH
23midbrain developmentGO:00309019.8FGFR2, SHH
24skin developmentGO:00435889.7ATP8A2, SHH
25lung-associated mesenchyme developmentGO:00604849.7FGFR2, SHH
26palate developmentGO:00600219.7CHD7, FOXE1, SHH
27hair follicle morphogenesisGO:00310699.6FGFR2, FOXE1, SHH
28inner ear morphogenesisGO:00424729.4ATP8A2, CHD7, FGFR2
29positive regulation of multicellular organism growthGO:00400189.2ATP8A2, CHD7
30negative regulation of transcription from RNA polymerase II promoterGO:00001228.7FGFR2, FOXE1, SHH, TBX22

Molecular functions related to Choanal Atresia, Posterior according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ATP bindingGO:00055247.8ATP8A2, CHD2, CHD7, FAM20C, FGFR2

Sources for Choanal Atresia, Posterior

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet