MCID: CHN005
MIFTS: 39

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

Choanal Atresia, Aliases & Descriptions:

Name: Choanal Atresia 9 11 43 47
Posterior Choanal Atresia 9 20 22
Choanal Atresia, Posterior 60
 
Imperforate Nares 9
Atresia of Nares 9


Classifications:



Characteristics (Orphanet epidemiological data):

47
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 Ontology9 DOID:9574
MeSH33 D002754
ICD9CM27 748.0
Orphanet47 137914
MESH via Orphanet34 D002754
ICD10 via Orphanet26 Q30.0
UMLS via Orphanet61 C0008297
ICD1025 Q30.0

Summaries for Choanal Atresia

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Wikipedia:63 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 PTPN14 (protein tyrosine phosphatase, non-receptor type 14). Affiliated tissues include heart, bone and brain, and related mouse phenotypes are digestive/alimentary and craniofacial.

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 127)
idRelated DiseaseScoreTop Affiliating Genes
1charge syndrome31.1CHD7
2treacher collins syndrome 130.3EFTUD2, TCOF1
3coloboma30.2UBXN11, CHD7, TCOF1
4radial ray hypoplasia choanal atresia10.7
5arhinia choanal atresia microphthalmia10.7
6burn-mckeown syndrome10.6
7choanal atresia and lymphedema10.5
8choanal atresia, bilateral10.5
9congenital heart disease10.5
10apert syndrome10.4
11nasopharyngitis10.4
12esophagitis10.4
13choanal atresia, unilateral10.4
14coffin-siris syndrome10.3
15lenz-majewski hyperostotic dwarfism10.3
16chromosome 9p deletion syndrome10.3
17marshall-smith syndrome10.3
18single median maxillary central incisor10.3
19bamforth-lazarus syndrome10.3
20ectodermal dysplasia10.3
21holoprosencephaly10.3
22esophageal atresia10.3
23mental retardation10.3
24gapo syndrome10.3
25crouzon syndrome with acanthosis nigricans10.3
26osteoglophonic dysplasia10.3
27orofaciodigital syndrome iv10.3
28crouzon syndrome10.3
29smith-lemli-opitz syndrome10.3
30fanconi anemia, complementation group a10.3
31nasopharyngeal carcinoma10.3
32mandibulofacial dysostosis, guion-almeida type10.3
33popliteal pterygium syndrome 110.3
34ladd syndrome10.3
35polydactyly10.3
36edwards syndrome10.3
37cornelia de lange syndrome10.3
38hallermann-streiff syndrome10.3
39antley-bixler syndrome10.3
40dysostosis10.3
41thyroiditis10.3
42agenesis of the corpus callosum10.3
43anophthalmia plus syndrome10.3
44cardiocranial syndrome10.3
45edinburgh malformation syndrome10.3
46eec syndrome10.3
47encephalocele10.3
48frontofacionasal dysplasia10.3
49german syndrome10.3
50hypomandibular faciocranial dysostosis10.3

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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Drug clinical trials:

Search ClinicalTrials for Choanal Atresia

Search NIH Clinical Center for 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, Posterior20 22

Anatomical Context for Choanal Atresia

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MalaCards organs/tissues related to Choanal Atresia:

31
Heart, Bone, Brain, Thyroid, Testes, Pituitary

Animal Models for Choanal Atresia or affiliated genes

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MGI Mouse Phenotypes related to Choanal Atresia:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053819.1ALB, FOXE1, TCOF1, CHD7
2MP:00053828.8PTPN14, CHD7, TCOF1, FOXE1
3MP:00053798.5ALB, FOXE1, TCOF1, CHD7, CHD2

Publications for Choanal Atresia

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Articles related to Choanal Atresia:

(show top 50)    (show all 485)
idTitleAuthorsYear
1
Management of congenital choanal atresia (CCA) after multiple failures: A Case Report. (23466775)
2013
2
Operative management of choanal atresia: a 15-year experience. (23329094)
2013
3
Maternal residential atrazine exposure and risk for choanal atresia and stenosis in offspring. (23036484)
2013
4
Bilateral choanal atresia repair in neonates--a single surgeon experience. (22444734)
2012
5
The transnasal flexible laryngoesophagoscope as an adjunct during surgical correction of choanal atresia. (22906613)
2012
6
DK-phocomelia syndrome with thrombocytopenia, encephalocele, and choanal atresia in an adult male with moderate learning difficulties. (21358540)
2011
7
Bilateral congenital choanal atresia and osteoma of ethmoid sinus with supernumerary nostril: a case report and review of the literature. (22185625)
2011
8
Congenital bilateral choanal atresia. (21381625)
2010
9
Transnasal endoscopic repair of bilateral congenital choanal atresia: controversies. (19930781)
2010
10
Treatment of bilateral choanal atresia in the premature infant. (18339432)
2008
11
Predictive factors for success after transnasal endoscopic treatment of choanal atresia. (18209138)
2008
12
Single-stage choanal atresia repair in the neonate. (18936357)
2008
13
Contact-diode laser repair of bony choanal atresia: a preliminary report. (18304657)
2008
14
Unilateral choanal atresia: Presentation in adults. (23120217)
2005
15
Treacher Collins Syndrome with choanal atresia: a case report and review of disease features. (16446903)
2005
16
Choanal atresia: analysis of 16 cases--the experience of HRAC-USP from 2000 to 2004. (16878240)
2005
17
Treacher Collins syndrome with choanal atresia: one way to handle the airway. (15283837)
2004
18
Transnasal repair of unilateral choanal atresia. (12677738)
2003
19
Transnasal mucosal flap rotation technique for repair of posterior choanal atresia. (11391260)
2001
20
Congenital choanal atresia in siblings. (11076329)
2000
21
Advanced drill technology in treatment of congenital choanal atresia. (9162130)
1997
22
Maxillary hypoplasia with unsuspected choanal atresia. (9365973)
1997
23
Choanal atresia in a patient with the deletion (9p) syndrome. (8172257)
1994
24
Unilateral choanal atresia. (1625286)
1992
25
Choanal atresia: How useful is computed tomography. (17589124)
1992
26
An improved stent method for choanal atresia repair. (2215049)
1990
27
Current management of choanal atresia. (2341233)
1990
28
Choanal atresia and athelia: methimazole teratogenicity or a new syndrome? (3688031)
1987
29
Surgery of choanal atresia in infants and children: historical notes and updated review. (3744697)
1986
30
Down's syndrome and choanal atresia. (2952802)
1986
31
Endonasal surgical treatment of bilateral choanal atresia under optic control in the infant. (4068107)
1985
32
Choanal atresia: a surface and ultrastructural study of the nasal mucous membranes. (4077389)
1985
33
Choanal atresia with Down syndrome. (6451679)
1981
34
Bilateral choanal atresia. (734558)
1978
35
Congenital choanal atresia. Anatomic, physiological, and therapeutic aspects, especially the endonasal approach under endoscopic vision. (629702)
1978
36
Glossoptosis as cause of apnoeic spells in infants with choanal atresia. (71643)
1977
37
Letter: Inherited cases of choanal atresia. (1124771)
1975
38
Familial choanal atresia in a rhinoplasty candidate--a case report. (4712262)
1973
39
Posterior choanal atresia. (4996574)
1971
40
Electrocoagulation in the treatment of the choanal atresia in the newborn. (5491647)
1970
41
Choanal atresia and-or cardiac disease. (5677491)
1968
42
Congenital choanal atresia. (5340416)
1967
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
Congenital choanal atresia. (14775107)
1950

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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Compounds for genes affiliated with Choanal Atresia

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GO Terms for genes affiliated with Choanal Atresia

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

idNameGO IDScoreTop Affiliating Genes
1chromatin modificationGO:00165689.6CHD7, CHD2

Products for genes affiliated with Choanal Atresia

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Sources for Choanal Atresia

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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