PCA
MCID: CHN065
MIFTS: 35

Choanal Atresia, Posterior (PCA) 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, 27GTR, 30ICD10, 31ICD10 via Orphanet, 32ICD9CM, 39MeSH, 40MESH via Orphanet, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Choanal Atresia, Posterior:

Name: Choanal Atresia, Posterior 52 24 39
Choanal Atresia 11 54 27 50 39 13 68
Posterior Choanal Atresia 11 27
 
Imperforate Nares 11
Atresia of Nares 11
Pca 24

Characteristics:

Orphanet epidemiological data:

54
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:

OMIM52 608911
Disease Ontology11 DOID:9574
ICD1030 Q30.0
ICD9CM32 748.0
Orphanet54 ORPHA137914
UMLS via Orphanet69 C0008297
ICD10 via Orphanet31 Q30.0
MESH via Orphanet40 D002754

Summaries for Choanal Atresia, Posterior

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MalaCards based summary: Choanal Atresia, Posterior, also known as choanal atresia, is related to choanal atresia and lymphedema and arhinia, choanal atresia, and microphthalmia. An important gene associated with Choanal Atresia, Posterior is FOXE1 (Forkhead Box E1), and among its related pathways is mRNA Splicing - Minor Pathway. Related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

Description from OMIM:52 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 96)
idRelated DiseaseScoreTop Affiliating Genes
1choanal atresia and lymphedema12.4
2arhinia, choanal atresia, and microphthalmia12.2
3choanal atresia, bilateral12.2
4radial ray hypoplasia with choanal atresia12.1
5choanal atresia, unilateral12.1
6choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome12.0
7charge syndrome12.0
8intractable diarrhea-choanal atresia-eye anomalies syndrome11.9
9x-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability11.9
10burn-mckeown syndrome11.9
11posterior cortical atrophy11.7
12coffin-siris syndrome11.3
13mandibulofacial dysostosis, guion-almeida type11.1
14bamforth-lazarus syndrome11.0
15antley-bixler syndrome11.0
16amyloidosis, primary localized cutaneous, 110.8
17primary cutaneous amyloidosis10.8
18prostate cancer10.3
19prostatitis10.3
20amelanotic melanoma10.2CHD7, FOXE1
21heart disease10.1
22microvascular complications of diabetes 510.1CHD7, FOXE1
23combined oxidative phosphorylation deficiency 2110.1EFTUD2, TXNL4A
24tricho odonto onychodysplasia syndactyly dominant type10.1CHD7, SHH
25nasopharyngitis10.1
26chromosome 10q23 deletion syndrome10.0EFTUD2, TXNL4A
27syndromic x-linked intellectual disability 1410.0FOXE1, SHH
28esophagitis10.0
29adrenal cortical hypofunction10.0CHD7, EFTUD2, SHH
30ectodermal dysplasia10.0
31esophageal atresia10.0
32ichthyosis, congenital, autosomal recessive 610.0EFTUD2, TXNL4A
33dysautonomia, familial9.9FGFR2, FOXE1, SHH
34myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency9.9FGFR2, FOXE1, TBX22
35nasopharyngeal carcinoma9.9
36eec syndrome9.9
37polydactyly9.9
38dysostosis9.9
39thyroiditis9.9
40birth defects9.9
41encephalocele9.9
42moyamoya disease9.9
43cerebritis9.9
44pycnodysostosis9.7
45achondroplasia9.7
46apert syndrome9.7
47costello syndrome9.7
48gastroesophageal reflux9.7
49pierre robin syndrome9.7
50laryngomalacia9.7

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



Diseases related to choanal atresia, posterior

Symptoms & Phenotypes for Choanal Atresia, Posterior

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Clinical features from OMIM:

608911

MGI Mouse Phenotypes related to Choanal Atresia, Posterior according to GeneCards Suite gene sharing:

41 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1ATP8A2, CHD7, FAM20C, FGFR2, SHH
2MP:00053718.8CHD2, CHD7, FAM20C, FGFR2, SHH
3MP:00053828.7CHD7, FAM20C, FGFR2, FOXE1, SHH, TBX22
4MP:00053888.5CHD2, CHD7, FGFR2, SHH, TBX22
5MP:00053818.2ATP8A2, CHD7, FAM20C, FGFR2, FOXE1, SHH
6MP:00053908.0CHD2, CHD7, FAM20C, FGFR2, SHH, TBX22
7MP:00053798.0ATP8A2, CHD2, CHD7, FAM20C, FGFR2, FOXE1
8MP:00053867.9ATP8A2, CHD2, CHD7, EFTUD2, FAM20C, FGFR2
9MP:00053917.4ATP8A2, CHD2, CHD7, FAM20C, FGFR2, SHH
10MP:00053787.3ATP8A2, CHD2, CHD7, FAM20C, FGFR2, FOXE1
11MP:00053767.0ATP8A2, CHD2, CHD7, EFTUD2, FAM20C, FGFR2
12MP:00107686.9ATP8A2, CHD2, CHD7, EFTUD2, FAM20C, FGFR2

Drugs & Therapeutics for Choanal Atresia, Posterior

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Stentless Endoscopic Transnasal Transseptal ChoanoplastyRecruitingNCT03167463

Search 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 Atresia27
2 Choanal Atresia, Posterior27 24

Anatomical Context for Choanal Atresia, Posterior

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

idSuper pathwaysScoreTop Affiliating Genes
19.8EFTUD2, TXNL4A

GO Terms for genes affiliated with Choanal Atresia, Posterior

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Cellular components related to Choanal Atresia, Posterior according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1U4/U6 x U5 tri-snRNP complexGO:00465409.8EFTUD2, TXNL4A

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

(show all 29)
idNameGO IDScoreTop Affiliating Genes
1embryonic organ morphogenesisGO:004856210.4FGFR2, FOXE1
2embryonic hindlimb morphogenesisGO:003511610.4CHD7, SHH
3limb developmentGO:006017310.3CHD7, SHH
4branching involved in prostate gland morphogenesisGO:006044210.2FGFR2, SHH
5branching involved in salivary gland morphogenesisGO:006044510.2FGFR2, SHH
6cell fate commitmentGO:004516510.2FGFR2, SHH
7embryonic digestive tract morphogenesisGO:004855710.2FGFR2, SHH
8embryonic organ developmentGO:004856810.2FGFR2, SHH
9embryonic pattern specificationGO:000988010.2FGFR2, SHH
10epithelial cell proliferation involved in salivary gland morphogenesisGO:006066410.2FGFR2, SHH
11limb bud formationGO:006017410.2FGFR2, SHH
12lung lobe morphogenesisGO:006046310.2FGFR2, SHH
13lung-associated mesenchyme developmentGO:006048410.2FGFR2, SHH
14mesenchymal cell proliferation involved in lung developmentGO:006091610.2FGFR2, SHH
15positive regulation of multicellular organism growthGO:004001810.2ATP8A2, CHD7
16midbrain developmentGO:003090110.2FGFR2, SHH
17regulation of fibroblast growth factor receptor signaling pathwayGO:004003610.1FAM20C, FGFR2
18odontogenesisGO:004247610.1FGFR2, SHH
19positive regulation of cell divisionGO:005178110.1FGFR2, SHH
20positive regulation of mesenchymal cell proliferationGO:000205310.1FGFR2, SHH
21positive regulation of Wnt signaling pathwayGO:003017710.0FGFR2, SHH
22prostate epithelial cord elongationGO:006052310.0FGFR2, SHH
23thymus developmentGO:004853810.0FOXE1, SHH
24palate developmentGO:00600219.9CHD7, FOXE1, SHH
25skin developmentGO:00435889.9ATP8A2, SHH
26hair follicle morphogenesisGO:00310699.9FGFR2, FOXE1, SHH
27inner ear morphogenesisGO:00424729.9ATP8A2, CHD7, FGFR2
28thyroid gland developmentGO:00308789.7FOXE1, SHH
29negative regulation of transcription from RNA polymerase II promoterGO:00001229.2FGFR2, FOXE1, SHH, TBX22

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

idNameGO IDScoreTop Affiliating Genes
1ATP bindingGO:00055247.9ATP8A2, CHD2, CHD7, FAM20C, FGFR2

Sources for Choanal Atresia, Posterior

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet