MCID: CHN005
MIFTS: 44

Choanal Atresia malady

Genetic diseases, Respiratory diseases, Smell/Taste diseases, Fetal diseases, Rare diseases categories

Aliases & Classifications for Choanal Atresia

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

Aliases & Descriptions for Choanal Atresia:

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


Classifications:



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


External Ids:

Disease Ontology10 DOID:9574
ICD9CM29 748.0
MeSH36 D002754
Orphanet51 137914
ICD10 via Orphanet28 Q30.0
MESH via Orphanet37 D002754
UMLS via Orphanet66 C0008297
ICD1027 Q30.0

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 posterior choanal atresia, is related to charge syndrome and treacher collins syndrome 1. An important gene associated with Choanal Atresia is FOXE1 (Forkhead Box E1), and among its related pathways are TSH signaling pathway and FOXA2 and FOXA3 transcription factor networks. Affiliated tissues include heart, testes and brain, and related mouse phenotypes are hearing/vestibular/ear and vision/eye.

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 248)
idRelated DiseaseScoreTop Affiliating Genes
1charge syndrome31.1CHD7, FOXE1
2treacher collins syndrome 130.6EFTUD2, TCOF1, TXNL4A
3intestinal atresia30.2CHD7, EFTUD2, TCOF1
4radial ray hypoplasia choanal atresia10.7
5pain disorder10.7
6burn-mckeown syndrome10.6
7choanal atresia and lymphedema10.6
8prostate cancer10.6
9arhinia choanal atresia microphthalmia10.6
10arrhinia - choanal atresia - microphthalmia10.5
11choanal atresia, bilateral10.5
12nasopharyngitis10.5
13congenital heart disease10.5
14prostatitis10.5
15apert syndrome10.4
16bamforth-lazarus syndrome10.4
17esophagitis10.4
18choanal atresia, unilateral10.4
19male reproductive organ cancer10.4
20male reproductive system disease10.4
21prostate disease10.4
22male genital disorders10.4
23crouzon syndrome with acanthosis nigricans10.4
24coffin-siris syndrome10.4
25single median maxillary central incisor10.4
26lenz-majewski hyperostotic dwarfism10.4
27chromosome 9p deletion syndrome10.4
28mandibulofacial dysostosis, guion-almeida type10.4
29marshall-smith syndrome10.4
30ectodermal dysplasia10.4
31holoprosencephaly10.4
32esophageal atresia10.4
33intractable diarrhea - choanal atresia - eye anomalies10.4
34posterior cortical atrophy10.3
35gapo syndrome10.3
36ladd syndrome10.3
37osteoglophonic dysplasia10.3
38orofaciodigital syndrome iv10.3
39crouzon syndrome10.3
40beare-stevenson cutis gyrata syndrome10.3
41antley-bixler syndrome without genital anomalies or disordered steroidogenesis10.3
42smith-lemli-opitz syndrome10.3
43fanconi anemia, complementation group a10.3
44nasopharyngeal carcinoma10.3
45edwards syndrome10.3
46antley-bixler syndrome10.3
47polydactyly10.3
48coloboma10.3
49cornelia de lange syndrome10.3
50hallermann-streiff syndrome10.3

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 24

Anatomical Context for Choanal Atresia

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MalaCards organs/tissues related to Choanal Atresia:

33
Heart, Testes, Brain, Thyroid, Bone, Pituitary

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:00053778.8ATP8A2, CHD7, TCOF1, TPO
2MP:00053918.2ATP8A2, CHD7, PTPN14, TCOF1, TPO
3MP:00053818.1ALB, CHD7, FOXE1, NKX2-1, TCOF1
4MP:00053797.3ALB, CHD7, FOXE1, NKX2-1, TCOF1, TPO
5MP:00107686.9ALB, ATP8A2, CHD7, FOXE1, NKX2-1, TCOF1
6MP:00053766.6ALB, ATP8A2, CHD7, FOXE1, NKX2-1, PTPN14

Publications for Choanal Atresia

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Articles related to Choanal Atresia:

(show top 50)    (show all 490)
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
Transnasal endoscopic repair of bilateral congenital choanal atresia: controversies. (19930781)
2010
11
Treatment of bilateral choanal atresia in the premature infant. (18339432)
2008
12
Predictive factors for success after transnasal endoscopic treatment of choanal atresia. (18209138)
2008
13
Single-stage choanal atresia repair in the neonate. (18936357)
2008
14
Contact-diode laser repair of bony choanal atresia: a preliminary report. (18304657)
2008
15
Unilateral choanal atresia: Presentation in adults. (23120217)
2005
16
Treacher Collins Syndrome with choanal atresia: a case report and review of disease features. (16446903)
2005
17
Choanal atresia: analysis of 16 cases--the experience of HRAC-USP from 2000 to 2004. (16878240)
2005
18
Treacher Collins syndrome with choanal atresia: one way to handle the airway. (15283837)
2004
19
Transnasal repair of unilateral choanal atresia. (12677738)
2003
20
Transnasal mucosal flap rotation technique for repair of posterior choanal atresia. (11391260)
2001
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. (5340416)
1967
44
Congenital choanal atresia. (5833296)
1965
45
CHOANAL ATRESIA. II. SURGICAL MANAGEMENT. (14256041)
1965
46
CONGENITAL CHOANAL ATRESIA IN INFANTS AND CHILDREN. (14196687)
1964
47
Congenital choanal atresia; report of a clinical series with special references to early symptoms and therapy. (14027627)
1963
48
Bilateral choanal atresia in the newborn. Surgical dangers to be avoided. (13688745)
1961
49
Bilateral congenital choanal atresia in newborn. (14902082)
1952
50
Observations in treating seven cases of choanal atresia by the transpalatine approach. (13015616)
1951

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4FOXE1, NKX2-1
29.0ALB, NKX2-1
3
Show member pathways
8.8FOXE1, NKX2-1, TPO

GO Terms for genes affiliated with Choanal Atresia

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

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:00056346.8ALB, CHD7, EFTUD2, FOXE1, NKX2-1, PTPN14

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of multicellular organism growthGO:00400189.6ATP8A2, CHD7
2thyroid hormone generationGO:00065909.6FOXE1, TPO
3inner ear morphogenesisGO:00424729.5ATP8A2, CHD7
4thyroid gland developmentGO:00308789.1FOXE1, NKX2-1

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