MCID: CHN005
MIFTS: 49

Choanal Atresia malady

Smell/Taste diseases, Fetal diseases categories

Summaries for Choanal Atresia

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Choanal atresia is a congenital disorder where the back of the nasal passage (choana) is blocked,... more...

MalaCards: Choanal Atresia, also known as imperforate nares, 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, testes and bone, and related mouse phenotypes are vision/eye and hearing/vestibular/ear.

Description from OMIM:46 608911

Aliases & Classifications for Choanal Atresia

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8Disease Ontology, 10DISEASES, 44Novoseek, 48Orphanet, 46OMIM, 56SNOMED-CT, 60UMLS, 27ICD9CM, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Smell/Taste diseases


Characteristics (Orphanet epidemiological data):

48
choanal atresia:
Prevalence: 1-9/100000


Aliases & Descriptions:

choanal atresia 8 10 44 48 46
imperforate nares 8
atresia of nares 8


External Ids:

Disease Ontology8 DOID:9574
OMIM46 608911
ICD9CM27 748.0
MeSH34 D002754
MESH via Orphanet35 D002754
ICD10 via Orphanet26 Q30.0
SNOMED-CT via Orphanet57 204508009
UMLS via Orphanet61 C0008297

Related Diseases for Choanal Atresia

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17GeneCards, 18GeneDecks
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Diseases in the Choanal Atresia family:

Posterior Choanal Atresia

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

(show top 50)    (show all 97)
idRelated DiseaseScoreTop Affiliating Genes
1charge syndrome30.6CHD7
2cleft palate30.6FOXE1, SHH, HOXA2, FGFR2, TCOF1
3esophageal atresia30.4SHH
4coloboma30.3TCOF1, CHD7, UBXN11
5bamforth-lazarus syndrome30.1HOXA2, FOXE1
6cleft lip30.1SHH, FOXE1
7craniosynostosis30.1FGFR2
8treacher collins syndrome 330.1TCOF1, EFTUD2
9posterior choanal atresia10.8
10radial ray hypoplasia choanal atresia10.6
11arhinia choanal atresia microphthalmia10.5
12treacher collins syndrome10.4
13nasopharyngitis10.4
14burn-mckeown syndrome10.4
15arrhinia - choanal atresia - microphthalmia10.4
16bilateral choanal atresia10.4
17esophagitis10.3
18unilateral choanal atresia10.3
19polydactyly10.2
20intestinal atresia10.2
21thyroiditis10.2
22choanal atresia and lymphedema10.2
23single median maxillary central incisor10.2
24intractable diarrhea - choanal atresia - eye anomalies10.2
25burns10.1
26smith-lemli-opitz syndrome10.1
27multiple intestinal atresia10.1
28dyskeratosis congenita10.1
29coffin-siris syndrome10.1
30osteopetrosis10.1
31ladd syndrome10.1
32achondroplasia10.1
33congenital hypothyroidism10.1
34costello syndrome10.1
35brachydactyly10.1
36kallmann syndrome10.1
37pharyngitis10.1
38microcephaly10.1
39crouzon syndrome10.1
40edwards syndrome10.1
41microphthalmia10.1
42imperforate anus10.1
43beare-stevenson cutis gyrata syndrome10.1
44adult syndrome10.1
45down syndrome10.1
46progeria10.1
47hallermann-streiff syndrome10.1
48holoprosencephaly10.1
49acrocephalosyndactylia10.1
50anus disease10.1

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



Diseases related to choanal atresia

Clinical Features for Choanal Atresia

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46OMIM
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Clinical features from OMIM:

608911

Drugs & Therapeutics for Choanal Atresia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Choanal Atresia

Search NIH Clinical Center for Choanal Atresia

Search CenterWatch for Choanal Atresia

Genetic Tests for Choanal Atresia

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Anatomical Context for Choanal Atresia

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32MalaCards
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MalaCards organs/tissues related to Choanal Atresia:

32
Heart, Testes, Bone, Thyroid, Brain, Pituitary

Animal Models for Choanal Atresia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Choanal Atresia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.7CHD7, FGFR2, TCOF1, PTPN14, ALDH1A3, SHH
2MP:00053778.6SHH, CHD7, HOXA2, FGFR2, TCOF1
3MP:00053818.6FOXE1, ALB, TCOF1, FGFR2, HOXA2, CHD7
4MP:00053888.5CHD2, CHD7, HOXA2, FGFR2, TCOF1, ALDH1A3
5MP:00053828.4ALDH1A3, FOXE1, SHH, CHD7, HOXA2, FGFR2
6MP:00053798.4SHH, CHD2, CHD7, FGFR2, TCOF1, ALDH1A3
7MP:00053908.2ALDH1A3, TCOF1, FGFR2, CHD7, CHD2, SHH

Publications for Choanal Atresia

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50PubMed
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Articles related to Choanal Atresia:

(show top 50)    (show all 477)
idTitleAuthorsYear
1
Bilateral sinonasal polyposis in a patient with unilateral choanal atresia. (22965465)
2013
2
Stentless endoscopic transnasal repair of bilateral choanal atresia starting with resection of vomer. (22542285)
2012
3
Bilateral congenital choanal atresia and osteoma of ethmoid sinus with supernumerary nostril: a case report and review of the literature. (22185625)
2011
4
Role of multislice computed tomography and local contrast in the diagnosis and characterization of choanal atresia. (21772853)
2011
5
Balloon dilation for management of choanal atresia and stenosis. (21944055)
2011
6
Combined transoral-transnasal approach in the repair of congenital posterior choanal atresia: clinical experience. (21518653)
2011
7
A case of solitary median maxillary central incisor (SMMCI) syndrome with bilateral pyriform aperture stenosis and choanal atresia. (20627328)
2010
8
A case of solitary median maxillary central incisor (SMMCI) syndrome with bilateral pyriform aperture stenosis and choanal atresia. (20626079)
2010
9
A missed bilateral choanal atresia. (20126823)
2010
10
Concurrent unilateral choanal atresia and congenital laryngeal deformity in a miniature donkey. (19151409)
2009
11
Familial occurrence of an association of multiple intestinal atresia and choanal atresia: a new syndrome? (19938077)
2009
12
Choanal atresia treated with transpalatal approach. (19032894)
2008
13
Choanal atresia: embryologic analysis and evolution of treatment, a 30-year experience. (18197129)
2008
14
Cytogenetic and array CGH characterization of de novo 1p36 duplications and deletion in a patient with congenital cataracts, hearing loss, choanal atresia, and mental retardation. (18924166)
2008
15
Bilateral choanal atresia in a newborn. (17990680)
2007
16
Computer-aided surgical treatment of bilateral choanal atresia. (17538334)
2007
17
Anesthesia for a neonate with persistent buccopharyngeal membrane and unilateral choanal atresia. (15910353)
2005
18
Obstructive sleep apnoea associated with congenital choanal atresia. (15845194)
2005
19
Transnasal repair of unilateral choanal atresia. (12677738)
2003
20
Endoscopic treatment of congenital choanal atresia. (12633927)
2003
21
Choanal atresia: a twenty-year review of medical comorbidities and surgical outcomes. (12567078)
2003
22
Unilateral choanal atresia: surgical technique and long-term results. (12389687)
2002
23
Choanal atresia: the result of maternal thyrotoxicosis or fetal carbimazole? (12124735)
2002
24
CHARGE association with choanal atresia and inner ear hypoplasia in a child with a de novo chromosome translocation t(2;7)(p14;q21.11). (11241468)
2001
25
A new endoscopic surgical method for unilateral choanal atresia. (11210891)
2001
26
Endoscopic repair of choanal atresia: practical operative technique. (11562882)
2001
27
Costello syndrome: report of a new case with choanal atresia and fatal outcome. (11525956)
2001
28
Surgical treatment of choanal atresia in CHARGE association: case report with long-term follow-up. (10717836)
1999
29
Intracranial malposition of a nasogastric tube following repair of choanal atresia. (10616570)
1999
30
Choanal atresia and hypothelia following methimazole exposure in utero: a second report. (9450891)
1998
31
Transnasal repair of choanal atresia using telescopes. (7727084)
1995
32
Syndromic association of cleft palate, bilateral choanal atresia, curly hair, and congenital hypothyroidism. (8320710)
1993
33
Unilateral choanal atresia. (1744850)
1991
34
Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. (2553970)
1989
35
CHARGE association in neonates presenting with choanal atresia. (3564704)
1987
36
Bilateral posterior choanal atresia: a morphologic and histologic study, and computed tomographic correlation. (3667092)
1987
37
Computed tomography of choanal atresia: special considerations of the unilateral type. (3780267)
1986
38
Choanal atresia. (6739596)
1984
39
Choanal atresia: a new embryologic theory and its influence on surgical management. (7098739)
1982
40
Choanal atresia and associated anomalies. (7373479)
1980
41
Glossoptosis as cause of apnoeic spells in infants with choanal atresia. (71643)
1977
42
Radiographic diagnosis of choanal atresia induced prenatally with triamcinolone in the baboon (Papio cynocephalus). (416215)
1977
43
Letter: Inherited cases of choanal atresia. (1124771)
1975
44
Posterior choanal atresia. (4996574)
1971
45
Choanal atresia and-or cardiac disease. (5677491)
1968
46
Closure of choanal atresia opening explained. (5935973)
1966
47
FAMILIAL INCIDENCE OF POSTERIOR CHOANAL ATRESIA. (14161133)
1964
48
Bilateral choanal atresia in the newborn. (13059618)
1953
49
Neonatal asphyxia due to bilateral choanal atresia. (13078172)
1953
50
Surgical repair of congenital choanal atresia. (15401053)
1949

Genetic Variations for Choanal Atresia

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Expression for genes affiliated with Choanal Atresia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Choanal Atresia

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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16Gene Ontology
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Cellular components related to Choanal Atresia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056347.6PTPN14, SHH, CHD1L, CHD2, CHD7, EFTUD2

Biological processes related to Choanal Atresia according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1embryonic organ morphogenesisGO:04856210.1FGFR2, FOXE1
2thyroid gland developmentGO:03087810.1FOXE1, SHH
3prostate epithelial cord elongationGO:06052310.1FGFR2, SHH
4mesenchymal cell proliferation involved in lung developmentGO:06091610.1FGFR2, SHH
5face developmentGO:06032410.1ALDH1A3, CHD7
6lung lobe morphogenesisGO:06046310.1SHH, FGFR2
7osteoblast developmentGO:00207610.0SHH, HOXA2
8epithelial cell proliferation involved in salivary gland morphogenesisGO:06066410.0FGFR2, SHH
9lung-associated mesenchyme developmentGO:06048410.0SHH, FGFR2
10limb bud formationGO:06017410.0FGFR2, SHH
11branching involved in salivary gland morphogenesisGO:0604459.9FGFR2, SHH
12hair follicle morphogenesisGO:0310699.9FGFR2, SHH, FOXE1
13embryonic hindlimb morphogenesisGO:0351169.8CHD7, SHH
14positive regulation of Wnt receptor signaling pathwayGO:0301779.8SHH, FGFR2
15embryonic pattern specificationGO:0098809.7SHH, FGFR2
16midbrain developmentGO:0309019.5FGFR2, SHH

Molecular functions related to Choanal Atresia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ATP-dependent DNA helicase activityGO:0040039.8CHD1L, CHD2
2protein bindingGO:0055156.6MOCS3, SNX9, SHH, CHD1L, CHD7, DPM1

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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet