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, bone and thyroid, 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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Sources:
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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Sources:
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:

Search CenterWatch for Choanal Atresia

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, Bone, Thyroid, Testes, 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:00053918.7ALDH1A3, PTPN14, TCOF1, FGFR2, CHD7, SHH
2MP:00053778.6SHH, CHD7, HOXA2, FGFR2, TCOF1
3MP:00053818.6FOXE1, SHH, CHD7, HOXA2, FGFR2, TCOF1
4MP:00053888.5SHH, CHD2, CHD7, HOXA2, FGFR2, TCOF1
5MP:00053828.4ALDH1A3, FOXE1, SHH, CHD7, HOXA2, FGFR2
6MP:00053798.4FOXE1, SHH, CHD2, CHD7, FGFR2, TCOF1
7MP:00053908.2SHH, CHD2, CHD7, HOXA2, FGFR2, TCOF1

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
Management of bilateral congenital choanal atresia. (23416814)
2013
2
Transnasal endoscopic repair of choanal atresia in a tertiary care centre: a review of outcomes. (22418073)
2012
3
Association between thyroxine levels at birth and choanal atresia or stenosis among infants in Texas, 2004-2007. (23125093)
2012
4
Choanal atresia associated with tracheoesophageal fistula: the spectrum of carbimazole embryopathy. (21807695)
2011
5
Congenital bilateral choanal atresia. (21381625)
2010
6
Transnasal endoscopic repair of bilateral congenital choanal atresia: controversies. (19930781)
2010
7
Choanal atresia, syngnathia, brachydactyly, mental retardation and short stature: an X-linked syndrome? (19730370)
2010
8
Congenital bilateral amazia associated with bilateral choanal atresia. (19533792)
2009
9
Choanal atresia associated with maternal hyperthyroidism treated with methimazole: a case-control study. (18698631)
2008
10
The use of nasal stent for choanal atresia. (18327375)
2008
11
Endoscopic transeptal surgery for choanal atresia with a stentless folded-over-flap technique. (17071296)
2006
12
Volatile induction and maintenance of anaesthesia (VIMA) with sevoflurane for surgical treatment of the choanal atresia in newborn. (17802946)
2006
13
Antenatal carbimazole and choanal atresia: a new embryopathy. (16982979)
2006
14
Acquired nasal posterior choanal atresia: postradiotherapy. (16708742)
2006
15
Choanal atresia: analysis of 16 cases--the experience of HRAC-USP from 2000 to 2004. (16878240)
2005
16
Management of bilateral choanal atresia in the neonate: an institutional review. (15013604)
2004
17
De novo interstitial duplication 4(q28.1q35) associated with choanal atresia. (15228573)
2004
18
Congenital choanal atresia in siblings. (11076329)
2000
19
Choanal atresia in premature dizygotic twins--a transnasal approach with Holmium:YAG-laser. (11190755)
2000
20
Unilateral choanal atresia in siblings--a rare occurrence. (8759542)
1996
21
Trans-nasal endoscopic holmium: YAG laser correction of choanal atresia. (8762309)
1996
22
Unilateral choanal atresia in a foal. (7591948)
1995
23
Apert syndrome with partial post-axial polydactyly and unilateral choanal atresia. (7890361)
1994
24
Choanal atresia. (7930863)
1994
25
New dysmorphic syndrome with choanal atresia in siblings. (1342861)
1992
26
The endoscopic repair of choanal atresia. (2126127)
1990
27
Choanal atresia: treatment trends in 47 patients over 33 years. (2916821)
1989
28
Surgical management of choanal atresia. (3412088)
1988
29
Median cleft face syndrome in association with hydrocephalus, agenesis of the corpus callosum, holoprosencephaly and choanal atresia. (3595651)
1987
30
The movable stent in choanal atresia. (3945142)
1986
31
Hospital and home care of the infant with congenital bilateral choanal atresia. (3635595)
1986
32
Trans-septal approach to unilateral posterior choanal atresia. (3772238)
1986
33
A stent for the corrective management of bilateral choanal atresia. (4058223)
1985
34
Computed tomographic demonstration of choanal atresia. (6437176)
1984
35
Evaluation of CT in the diagnosis of congenital choanal atresia. (6644160)
1983
36
Treatment of choanal atresia by endonasal microsurgery. (7166704)
1982
37
Results of surgical treatment of choanal atresia. (504906)
1979
38
Congenital choanal atresia. Anatomic, physiological, and therapeutic aspects, especially the endonasal approach under endoscopic vision. (629702)
1978
39
Management of choanal atresia with the carbon dioxide laser. (718063)
1978
40
Letter: Choanal atresia. (4432175)
1974
41
Treatment of acquired choanal atresia. (5094544)
1971
42
Bilateral choanal atresia in the newborn. (Two case reports). (5154842)
1971
43
Gradenigo's syndrome following correction of a posterior choanal atresia. Case report. (5561893)
1971
44
The management of bilateral choanal atresia. (5686026)
1968
45
Congenital choanal atresia. (5340416)
1967
46
Bilateral choanal atresia. (6043785)
1967
47
Mucus casts of the nostrils, a diagnostic aid in choanal atresia. (5933903)
1966
48
Bilateral choanal atresia in the newborn-- a new method of medical management. (13773952)
1961
49
Bilateral congenital choanal atresia: a report of three cases corrected surgically in the newborn. (13411987)
1957
50
Bilateral choanal atresia. (18872167)
1948

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

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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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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:0040039.8CHD2, CHD1L
2protein bindingGO:0055156.6ALB, MOCS3, SNX9, SHH, CHD1L, CHD7

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