MCID: CHN005
MIFTS: 42

Choanal Atresia malady

Categories: Genetic diseases, Respiratory diseases, Smell/Taste diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Choanal Atresia

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Aliases & Descriptions for Choanal Atresia:

Name: Choanal Atresia 11 13 25 48 37 66
Choanal Atresia, Posterior 37
Posterior Choanal Atresia 11
 
Imperforate Nares 11
Atresia of Nares 11

Classifications:



External Ids:

Disease Ontology11 DOID:9574
ICD1028 Q30.0
ICD9CM30 748.0

Summaries for Choanal Atresia

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Wikipedia:69 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 choanal atresia, posterior, is related to imperforate anus and choanal atresia and lymphedema. An important gene associated with Choanal Atresia is FOXE1 (Forkhead Box E1), and among its related pathways is FOXA2 and FOXA3 transcription factor networks. Affiliated tissues include heart, testes and bone, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Related Diseases for Choanal Atresia

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Diseases in the Choanal Atresia family:

Choanal Atresia, Posterior

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

(show top 50)    (show all 93)
idRelated DiseaseScoreTop Affiliating Genes
1imperforate anus30.2CHD7, EFTUD2
2choanal atresia and lymphedema12.4
3choanal atresia, posterior12.3
4arhinia, choanal atresia, and microphthalmia12.3
5choanal atresia, bilateral12.3
6radial ray hypoplasia with choanal atresia12.2
7choanal atresia, unilateral12.2
8intractable diarrhea-choanal atresia-eye anomalies syndrome12.1
9burn-mckeown syndrome11.9
10charge syndrome11.8
11coffin-siris syndrome10.6
12acrofacial dysostosis 1, nager type10.4EFTUD2, TXNL4A
13lymphocele10.4CHD7, FOXE1
14chromosomal deletion syndrome10.4EFTUD2, TXNL4A
15cardiomyopathy, dilated, 2b10.3CHD7, FOXE1
16heart disease10.3
17mandibulofacial dysostosis, guion-almeida type10.2
18nasopharyngitis10.2
19congenital heart disease10.2
20esophagitis10.2
21dysautonomia, familial10.1FOXE1, TPO
22ectodermal dysplasia10.1
23esophageal atresia10.1
24bamforth-lazarus syndrome10.1
25antley-bixler syndrome10.1
26myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency10.0FOXE1, TCOF1
27mental retardation, autosomal recessive 4610.0EFTUD2, TCOF1, TXNL4A
28central nervous system hemangioma10.0FOXE1, TPO
29nasopharyngeal carcinoma10.0
30polydactyly10.0
31dysostosis10.0
32thyroiditis10.0
33birth defects10.0
34encephalocele10.0
35hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia10.0FOXE1, NKX2-1
36achondroplasia9.9
37apert syndrome9.9
38costello syndrome9.9
39gastroesophageal reflux9.9
40pierre robin syndrome9.9
41laryngomalacia9.9
42jejunal atresia9.9
43syngnathia9.9
44dk phocomelia syndrome9.9
45burns9.9
46cataract9.9
47craniosynostosis9.9
48holoprosencephaly9.9
49hydrocephalus9.9
50lymphedema9.9

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 Atresia25

Anatomical Context for Choanal Atresia

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MalaCards organs/tissues related to Choanal Atresia:

34
Heart, Testes, Bone, Thyroid, Brain, Pituitary, Tongue

Animal Models for Choanal Atresia or affiliated genes

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MGI Mouse Phenotypes related to Choanal Atresia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.0CHD7, FAM20C, TCOF1, TPO
2MP:00053828.8CHD7, FAM20C, FOXE1, PTPN14, TCOF1
3MP:00053918.1CHD7, FAM20C, PTPN14, TCOF1, TPO
4MP:00053817.5ALB, CHD7, FAM20C, FOXE1, NKX2-1, TCOF1
5MP:00053766.9ALB, CHD7, FAM20C, FOXE1, NKX2-1, PTPN14
6MP:00053796.8ALB, CHD7, FAM20C, FOXE1, NKX2-1, TCOF1
7MP:00053786.8CHD7, FAM20C, FOXE1, NKX2-1, PTPN14, TCOF1
8MP:00107686.2ALB, CHD7, EFTUD2, FAM20C, FOXE1, NKX2-1

Publications for Choanal Atresia

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Articles related to Choanal Atresia:

(show top 50)    (show all 506)
idTitleAuthorsYear
1
Partial trisomy 4q and partial monosomy 9p in a girl with choanal atresia and various dysmorphic findings. (25979671)
2015
2
Current Updates on Choanal Atresia. (26106591)
2015
3
Management of congenital choanal atresia (CCA) after multiple failures: A Case Report. (23466775)
2013
4
Maternal residential atrazine exposure and risk for choanal atresia and stenosis in offspring. (23036484)
2013
5
Stentless endoscopic transnasal repair of bilateral choanal atresia starting with resection of vomer. (22542285)
2012
6
Bilateral congenital choanal atresia and osteoma of ethmoid sinus with supernumerary nostril: a case report and review of the literature. (22185625)
2011
7
Interstitial deletion of 13q22-q32: a case with choanal atresia and mega-cisterna magna and review of the literature. (22029174)
2011
8
Endoscopic surgery for acquired choanal atresia after radiotherapy for nasopharyngeal carcinoma. (21294973)
2011
9
Congenital bilateral choanal atresia. (21381625)
2010
10
Image-guided nasalization of the sphenoid sinus in choanal atresia. (20642993)
2010
11
A case of solitary median maxillary central incisor (SMMCI) syndrome with bilateral pyriform aperture stenosis and choanal atresia. (20627328)
2010
12
Bilateral complete choanal atresia in an adult woman--managed with nasal endoscopes. (20839568)
2010
13
Management of choanal atresia in cases of craniofacial malformation. (23139471)
2009
14
Treatment of bilateral choanal atresia in the premature infant. (18339432)
2008
15
Predictive factors for success after transnasal endoscopic treatment of choanal atresia. (18209138)
2008
16
Single-stage choanal atresia repair in the neonate. (18936357)
2008
17
Contact-diode laser repair of bony choanal atresia: a preliminary report. (18304657)
2008
18
Unusual case of accessory nose associated with unilateral complete congenital choanal atresia. (18813425)
2008
19
Bilateral congenital choanal atresia in a 7-day-old patient: transnasal endoscopic repair with stent. (17323088)
2007
20
Unilateral choanal atresia: Presentation in adults. (23120217)
2005
21
Choanal atresia: analysis of 16 cases--the experience of HRAC-USP from 2000 to 2004. (16878240)
2005
22
Treacher Collins syndrome with choanal atresia: one way to handle the airway. (15283837)
2004
23
Transnasal repair of unilateral choanal atresia. (12677738)
2003
24
Transnasal endoscopic surgery of choanal atresia without the use of stents. (12150534)
2002
25
Congenital choanal atresia in siblings. (11076329)
2000
26
Endoscopic endonasal emergency management of bilateral choanal atresia in new borns. (23119642)
1999
27
Potential pitfalls in the work-up and diagnosis of choanal atresia. (9504487)
1998
28
Advanced drill technology in treatment of congenital choanal atresia. (9162130)
1997
29
Apert syndrome with partial post-axial polydactyly and unilateral choanal atresia. (7890361)
1994
30
Unilateral choanal atresia. (1625286)
1992
31
An improved stent method for choanal atresia repair. (2215049)
1990
32
Current management of choanal atresia. (2341233)
1990
33
Anatomic findings and management of choanal atresia and the CHARGE association. (3178097)
1988
34
Surgery of choanal atresia in infants and children: historical notes and updated review. (3744697)
1986
35
Down's syndrome and choanal atresia. (2952802)
1986
36
Choanal atresia: a surface and ultrastructural study of the nasal mucous membranes. (4077389)
1985
37
Choanal atresia with Down syndrome. (6451679)
1981
38
Congenital choanal atresia and nerve deafness. (528823)
1979
39
Bilateral choanal atresia. (734558)
1978
40
Congenital choanal atresia. Anatomic, physiological, and therapeutic aspects, especially the endonasal approach under endoscopic vision. (629702)
1978
41
Letter: Inherited cases of choanal atresia. (1124771)
1975
42
Familial choanal atresia in a rhinoplasty candidate--a case report. (4712262)
1973
43
Choanal atresia and-or cardiac disease. (5677491)
1968
44
Congenital choanal atresia. (5833296)
1965
45
FAMILIAL INCIDENCE OF POSTERIOR CHOANAL ATRESIA. (14161133)
1964
46
Bilateral choanal atresia in the newborn. Surgical dangers to be avoided. (13688745)
1961
47
Congenital choanal atresia. (14407408)
1960
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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Copy number variations for Choanal Atresia from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1160272221180000024300000Microdeletionchoanal atresia

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 pathwaysScoreTop Affiliating Genes
19.0ALB, NKX2-1

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
1palate developmentGO:00600219.8CHD7, FOXE1
2thyroid gland developmentGO:00308789.7FOXE1, NKX2-1
3thyroid hormone generationGO:00065909.6FOXE1, TPO
4cellular oxidant detoxificationGO:00988699.5ALB, TPO

Sources for Choanal Atresia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet