MCID: CHN005
MIFTS: 47

Choanal Atresia malady

Genetic diseases, Smell/Taste diseases, Fetal diseases, Rare diseases, Respiratory diseases categories
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Summaries for Choanal Atresia

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Sources:
65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 Choanal atresia is a congenital disorder where the back of the nasal passage (choana) is blocked,... more...

MalaCards: Choanal Atresia, also known as posterior choanal atresia, is related to charge syndrome and cleft palate. An important gene associated with Choanal Atresia is PTPN14 (protein tyrosine phosphatase, non-receptor type 14). Affiliated tissues include heart, bone and testes, and related mouse phenotypes are digestive/alimentary and craniofacial.

Description from OMIM:47 608911

Aliases & Classifications for Choanal Atresia

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8Disease Ontology, 20GeneTests, 22GTR, 10DISEASES, 45Novoseek, 49Orphanet, 47OMIM, 58SNOMED-CT, 62UMLS, 27ICD9CM, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
choanal atresia:
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

choanal atresia 8 10 45 49 47
posterior choanal atresia 8 20 22
imperforate nares 8
atresia of nares 8


External Ids:

Disease Ontology8 DOID:9574
OMIM47 608911
ICD9CM27 748.0
MeSH35 D002754
MESH via Orphanet36 D002754
ICD10 via Orphanet26 Q30.0
SNOMED-CT via Orphanet59 204508009
UMLS via Orphanet63 C0008297

Related Diseases for Choanal Atresia

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17GeneCards, 18GeneDecks
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Diseases related to Choanal Atresia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 114)
idRelated DiseaseScoreTop Affiliating Genes
1charge syndrome30.8CHD7
2cleft palate30.7TCOF1, FOXE1
3coloboma30.3UBXN11, CHD7, TCOF1
4treacher collins syndrome 330.1EFTUD2, TCOF1
5radial ray hypoplasia choanal atresia10.6
6arhinia choanal atresia microphthalmia10.5
7burn-mckeown syndrome10.5
8treacher collins syndrome10.4
9nasopharyngitis10.4
10congenital heart disease10.4
11arrhinia - choanal atresia - microphthalmia10.4
12choanal atresia, bilateral10.4
13esophagitis10.3
14ectodermal dysplasia10.3
15mental retardation10.3
16choanal atresia and lymphedema10.3
17choanal atresia, unilateral10.3
18polydactyly10.3
19esophageal atresia10.3
20thyroiditis10.3
21eec syndrome10.3
22encephalocele10.3
23frontonasal dysplasia10.3
24encephaloceles10.3
25short stature10.3
26single median maxillary central incisor10.3
27intractable diarrhea - choanal atresia - eye anomalies10.3
28burns10.1
29coffin-siris syndrome10.1
30dyskeratosis congenita10.1
31pharyngitis10.1
32marshall-smith syndrome10.1
33edwards syndrome10.1
34crouzon syndrome10.1
35microcephaly10.1
36microphthalmia10.1
37intestinal atresia10.1
38imperforate anus10.1
39hallermann-streiff syndrome10.1
40holoprosencephaly10.1
41osteopetrosis10.1
42ladd syndrome10.1
43congenital hypothyroidism10.1
44achondroplasia10.1
45beare-stevenson cutis gyrata syndrome10.1
46costello syndrome10.1
47brachydactyly10.1
48kallmann syndrome10.1
49bamforth-lazarus syndrome10.1
50progeria10.1

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



Diseases related to choanal atresia

Symptoms for Choanal Atresia

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47OMIM
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Clinical features from OMIM:

608911

Drugs & Therapeutics for Choanal Atresia

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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20GeneTests, 22GTR
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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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33MalaCards
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MalaCards organs/tissues related to Choanal Atresia:

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

Animal Models for Choanal Atresia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Choanal Atresia:

37
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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52PubMed
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Articles related to Choanal Atresia:

(show top 50)    (show all 472)
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
Choanal atresia associated with tracheoesophageal fistula: the spectrum of carbimazole embryopathy. (21807695)
2011
7
DK-phocomelia syndrome with thrombocytopenia, encephalocele, and choanal atresia in an adult male with moderate learning difficulties. (21358540)
2011
8
Bilateral congenital choanal atresia and osteoma of ethmoid sinus with supernumerary nostril: a case report and review of the literature. (22185625)
2011
9
Congenital bilateral choanal atresia. (21381625)
2010
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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Choanal Atresia

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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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16Gene Ontology
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Biological processes related to Choanal Atresia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chromatin modificationGO:0165689.6CHD7, CHD2

Products for genes affiliated with Choanal Atresia

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  • Antibodies
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  • Lysates
  • Antibodies

Sources for Choanal Atresia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet