MCID: CHN005
MIFTS: 39

Choanal Atresia malady

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

Aliases & Classifications for Choanal Atresia

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Sources:
22GeneTests, 10Disease Ontology, 47Novoseek, 12DISEASES, 51Orphanet, 36MeSH, 65UMLS, 24GTR, 27ICD10, 29ICD9CM, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Choanal Atresia:

Name: Choanal Atresia 10 47 12 51 36 65
Choanal Atresia, Posterior 22 24
Posterior Choanal Atresia 10
 
Imperforate Nares 10
Atresia of Nares 10
Pca 22

Characteristics:

Orphanet epidemiological data:

51
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: Infancy,Neonatal

Classifications:



External Ids:

Disease Ontology10 DOID:9574
ICD1027 Q30.0
ICD9CM29 748.0
Orphanet51 137914
ICD10 via Orphanet28 Q30.0
MESH via Orphanet37 D002754
UMLS via Orphanet66 C0008297
UMLS65 C0008297, C0220723

Summaries for Choanal Atresia

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Wikipedia:68 Choanal atresia is a congenital disorder where the back of the nasal passage (choana) is blocked,... more...

MalaCards based summary: Choanal Atresia, also known as choanal atresia, posterior, is related to intestinal atresia and choanal atresia and lymphedema. An important gene associated with Choanal Atresia is FOXE1 (Forkhead Box E1). Affiliated tissues include breast, b cells and heart, and related mouse phenotypes are craniofacial and hearing/vestibular/ear.

Related Diseases for Choanal Atresia

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

(show top 50)    (show all 90)
idRelated DiseaseScoreTop Affiliating Genes
1intestinal atresia29.5CHD7, EFTUD2, TCOF1
2choanal atresia and lymphedema12.4
3choanal atresia, bilateral12.3
4choanal atresia, unilateral12.2
5radial ray hypoplasia choanal atresia12.2
6arhinia choanal atresia microphthalmia12.1
7arrhinia-choanal atresia-microphthalmia syndrome12.1
8intractable diarrhea-choanal atresia-eye anomalies syndrome12.1
9charge syndrome11.8
10burn-mckeown syndrome11.8
11posterior cortical atrophy11.5
12amyloidosis, primary localized cutaneous, 110.9
13primary cutaneous amyloidosis10.9
14coffin-siris syndrome10.6
15prostate cancer10.4
16prostatitis10.4
17acrofacial dysostosis 1, nager type10.3EFTUD2, TXNL4A
18heart disease10.3
19mandibulofacial dysostosis, guion-almeida type10.2
20tinea capitis10.2CHD7, FOXE1
21orofaciodigital syndrome x10.2EFTUD2, TXNL4A
22nasopharyngitis10.2
23congenital heart disease10.2
24esophagitis10.2
25cardiomyopathy, dilated, 2b10.1CHD7, FOXE1
26ectodermal dysplasia10.1
27esophageal atresia10.1
28bamforth-lazarus syndrome10.1
29antley-bixler syndrome10.1
30bardet-biedl syndrome10.0EFTUD2, TCOF1
31nasopharyngeal carcinoma10.0
32polydactyly10.0
33coloboma10.0
34dysostosis10.0
35thyroiditis10.0
36eec syndrome10.0
37encephalocele10.0
38moyamoya disease10.0
39cerebritis10.0
40mild late-onset parkinsonism, mapt-related9.9EFTUD2, TCOF1
41mental retardation, autosomal recessive 469.9EFTUD2, TCOF1, TXNL4A
42achondroplasia9.9
43apert syndrome9.9
44costello syndrome9.9
45gastroesophageal reflux9.9
46pierre robin syndrome9.9
47burns9.9
48cataract9.9
49craniosynostosis9.9
50holoprosencephaly9.9

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



Diseases related to choanal atresia

Symptoms for Choanal Atresia

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Drugs & Therapeutics for Choanal Atresia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Choanal Atresia


Cochrane evidence based reviews: choanal atresia

Genetic Tests for Choanal Atresia

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Genetic tests related to Choanal Atresia:

id Genetic test Affiliating Genes
1 Choanal Atresia, Posterior22

Anatomical Context for Choanal Atresia

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MalaCards organs/tissues related to Choanal Atresia:

33
Breast, B cells, Heart, Prostate, Liver, Eye, Lung

Animal Models for Choanal Atresia or affiliated genes

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MGI Mouse Phenotypes related to Choanal Atresia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.2CHD7, FAM20C, FOXE1, PTPN14, TCOF1
2MP:00053778.2ATP8A2, CHD7, FAM20C, TCOF1
3MP:00053917.9ATP8A2, CHD7, FAM20C, PTPN14, TCOF1
4MP:00053797.5ALB, ATP8A2, CHD7, FAM20C, FOXE1, TCOF1
5MP:00053817.3ALB, ATP8A2, CHD7, FAM20C, FOXE1, TCOF1

Publications for Choanal Atresia

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Articles related to Choanal Atresia:

(show top 50)    (show all 503)
idTitleAuthorsYear
1
Partial trisomy 4q and partial monosomy 9p in a girl with choanal atresia and various dysmorphic findings. (25979671)
2015
2
Management of congenital choanal atresia (CCA) after multiple failures: A Case Report. (23466775)
2013
3
Operative management of choanal atresia: a 15-year experience. (23329094)
2013
4
Maternal residential atrazine exposure and risk for choanal atresia and stenosis in offspring. (23036484)
2013
5
Bilateral choanal atresia repair in neonates--a single surgeon experience. (22444734)
2012
6
The transnasal flexible laryngoesophagoscope as an adjunct during surgical correction of choanal atresia. (22906613)
2012
7
Choanal atresia associated with tracheoesophageal fistula: the spectrum of carbimazole embryopathy. (21807695)
2011
8
DK-phocomelia syndrome with thrombocytopenia, encephalocele, and choanal atresia in an adult male with moderate learning difficulties. (21358540)
2011
9
Bilateral congenital choanal atresia and osteoma of ethmoid sinus with supernumerary nostril: a case report and review of the literature. (22185625)
2011
10
Congenital bilateral choanal atresia. (21381625)
2010
11
Transnasal endoscopic repair of bilateral congenital choanal atresia: controversies. (19930781)
2010
12
Treatment of bilateral choanal atresia in the premature infant. (18339432)
2008
13
Predictive factors for success after transnasal endoscopic treatment of choanal atresia. (18209138)
2008
14
Single-stage choanal atresia repair in the neonate. (18936357)
2008
15
Contact-diode laser repair of bony choanal atresia: a preliminary report. (18304657)
2008
16
Unilateral choanal atresia: Presentation in adults. (23120217)
2005
17
Treacher Collins Syndrome with choanal atresia: a case report and review of disease features. (16446903)
2005
18
Choanal atresia: analysis of 16 cases--the experience of HRAC-USP from 2000 to 2004. (16878240)
2005
19
Treacher Collins syndrome with choanal atresia: one way to handle the airway. (15283837)
2004
20
Transnasal repair of unilateral choanal atresia. (12677738)
2003
21
Congenital choanal atresia in siblings. (11076329)
2000
22
Advanced drill technology in treatment of congenital choanal atresia. (9162130)
1997
23
Maxillary hypoplasia with unsuspected choanal atresia. (9365973)
1997
24
Choanal atresia in a patient with the deletion (9p) syndrome. (8172257)
1994
25
Unilateral choanal atresia. (1625286)
1992
26
Choanal atresia: How useful is computed tomography. (17589124)
1992
27
An improved stent method for choanal atresia repair. (2215049)
1990
28
Current management of choanal atresia. (2341233)
1990
29
Choanal atresia and athelia: methimazole teratogenicity or a new syndrome? (3688031)
1987
30
Surgery of choanal atresia in infants and children: historical notes and updated review. (3744697)
1986
31
Down's syndrome and choanal atresia. (2952802)
1986
32
Endonasal surgical treatment of bilateral choanal atresia under optic control in the infant. (4068107)
1985
33
Choanal atresia: a surface and ultrastructural study of the nasal mucous membranes. (4077389)
1985
34
Choanal atresia with Down syndrome. (6451679)
1981
35
Bilateral choanal atresia. (734558)
1978
36
Congenital choanal atresia. Anatomic, physiological, and therapeutic aspects, especially the endonasal approach under endoscopic vision. (629702)
1978
37
Glossoptosis as cause of apnoeic spells in infants with choanal atresia. (71643)
1977
38
Letter: Inherited cases of choanal atresia. (1124771)
1975
39
Familial choanal atresia in a rhinoplasty candidate--a case report. (4712262)
1973
40
Posterior choanal atresia. (4996574)
1971
41
Electrocoagulation in the treatment of the choanal atresia in the newborn. (5491647)
1970
42
Choanal atresia and-or cardiac disease. (5677491)
1968
43
Congenital choanal atresia. (5833296)
1965
44
CHOANAL ATRESIA. II. SURGICAL MANAGEMENT. (14256041)
1965
45
CONGENITAL CHOANAL ATRESIA IN INFANTS AND CHILDREN. (14196687)
1964
46
Congenital choanal atresia; report of a clinical series with special references to early symptoms and therapy. (14027627)
1963
47
Bilateral choanal atresia in the newborn. Surgical dangers to be avoided. (13688745)
1961
48
Bilateral congenital choanal atresia in newborn. (14902082)
1952
49
Observations in treating seven cases of choanal atresia by the transpalatine approach. (13015616)
1951
50

Variations for Choanal Atresia

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Expression for genes affiliated with Choanal Atresia

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Search GEO for disease gene expression data for Choanal Atresia.

Pathways for genes affiliated with Choanal Atresia

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GO Terms for genes affiliated with Choanal Atresia

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Sources for Choanal Atresia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet