MCID: CHN065
MIFTS: 44

Choanal Atresia, Posterior

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

Aliases & Classifications for Choanal Atresia, Posterior

MalaCards integrated aliases for Choanal Atresia, Posterior:

Name: Choanal Atresia, Posterior 57 44
Choanal Atresia 12 59 29 55 6 44 15 73
Posterior Choanal Atresia 12 29
Imperforate Nares 12
Atresia of Nares 12
Pca 57

Characteristics:

Orphanet epidemiological data:

59
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: Childhood,Infancy,Neonatal;

Classifications:



External Ids:

OMIM 57 608911
Disease Ontology 12 DOID:9574
ICD10 33 Q30.0
ICD9CM 35 748.0
Orphanet 59 ORPHA137914
UMLS via Orphanet 74 C0008297
ICD10 via Orphanet 34 Q30.0
MESH via Orphanet 45 D002754
MedGen 42 C0220723

Summaries for Choanal Atresia, Posterior

MalaCards based summary : Choanal Atresia, Posterior, also known as choanal atresia, is related to charge syndrome and hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate. An important gene associated with Choanal Atresia, Posterior is FOXE1 (Forkhead Box E1), and among its related pathways/superpathways is mRNA Splicing - Minor Pathway. Affiliated tissues include heart, testes and bone, and related phenotypes are craniofacial and digestive/alimentary

Description from OMIM: 608911

Related Diseases for Choanal Atresia, Posterior

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

(show top 50) (show all 126)
# Related Disease Score Top Affiliating Genes
1 charge syndrome 33.3 CHD7 FOXE1
2 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 31.8 FGFR2 FOXE1
3 esophageal atresia 30.5 CHD7 EFTUD2
4 treacher collins syndrome 1 30.5 EFTUD2 TXNL4A
5 cleft palate, isolated 29.2 FGFR2 FOXE1 SATB2
6 choanal atresia and lymphedema 12.6
7 arhinia choanal atresia microphthalmia 12.5
8 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 12.5
9 radial ray hypoplasia with choanal atresia 12.4
10 choanal atresia, bilateral 12.3
11 choanal atresia, unilateral 12.2
12 intractable diarrhea-choanal atresia-eye anomalies syndrome 12.1
13 burn-mckeown syndrome 12.0
14 posterior cortical atrophy 11.8
15 mental retardation, x-linked 99, syndromic, female-restricted 11.7
16 bamforth syndrome 11.6
17 bosma arhinia microphthalmia syndrome 11.5
18 solitary median maxillary central incisor 11.4
19 mandibulofacial dysostosis, guion-almeida type 11.2
20 amyloidosis, primary localized cutaneous, 1 11.0
21 gapo syndrome 11.0
22 nijmegen breakage syndrome 11.0
23 raine syndrome 11.0
24 restrictive dermopathy, lethal 11.0
25 diarrhea 5, with tufting enteropathy, congenital 11.0
26 antley-bixler syndrome 11.0
27 ichthyosis follicularis atrichia photophobia syndrome 11.0
28 methimazole antenatal exposure 11.0
29 warfarin syndrome 11.0
30 primary cutaneous amyloidosis 10.9
31 tinea favosa 10.5 CHD7 FOXE1
32 prostatitis 10.4
33 prostate cancer 10.3
34 acrofacial dysostosis 1, nager type 10.3 EFTUD2 TXNL4A
35 heart disease 10.2
36 nasopharyngitis 10.2
37 aging 10.1
38 esophagitis 10.1
39 tracheoesophageal fistula with or without esophageal atresia 10.1
40 ectodermal dysplasia 10.1
41 cerebritis 10.0
42 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 10.0
43 polydactyly 10.0
44 nasopharyngeal carcinoma 10.0
45 burns 10.0
46 craniosynostosis 10.0
47 dysostosis 10.0
48 thyroiditis 10.0
49 chromosome 4q duplication 10.0
50 encephalocele 10.0

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



Diseases related to Choanal Atresia, Posterior

Symptoms & Phenotypes for Choanal Atresia, Posterior

Clinical features from OMIM:

608911

MGI Mouse Phenotypes related to Choanal Atresia, Posterior:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.88 CHD7 FAM20C FGFR2 FOXE1 RDH10 SATB2
2 digestive/alimentary MP:0005381 9.85 CHD7 FAM20C FGFR2 FOXE1 RDH10 SATB2
3 endocrine/exocrine gland MP:0005379 9.73 CHD7 FAM20C FGFR2 FOXE1 RDH10 SATB2
4 embryo MP:0005380 9.72 SPINT2 CHD7 FGFR2 RDH10 SATB2
5 hearing/vestibular/ear MP:0005377 9.46 CHD7 FAM20C FGFR2 RDH10
6 limbs/digits/tail MP:0005371 9.43 CHD7 FAM20C FGFR2 RDH10 SATB2 SPINT2
7 mortality/aging MP:0010768 9.23 CHD7 EFTUD2 FAM20C FGFR2 FOXE1 RDH10

Drugs & Therapeutics for Choanal Atresia, Posterior

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Stentless Endoscopic Transnasal Transseptal Choanoplasty Recruiting NCT03167463 Not Applicable

Search NIH Clinical Center for Choanal Atresia, Posterior

Cochrane evidence based reviews: choanal atresia

Genetic Tests for Choanal Atresia, Posterior

Genetic tests related to Choanal Atresia, Posterior:

# Genetic test Affiliating Genes
1 Choanal Atresia 29
2 Posterior Choanal Atresia 29

Anatomical Context for Choanal Atresia, Posterior

MalaCards organs/tissues related to Choanal Atresia, Posterior:

41
Heart, Testes, Bone, Thyroid, Brain, Pituitary, Tongue

Publications for Choanal Atresia, Posterior

Articles related to Choanal Atresia, Posterior:

(show top 50) (show all 516)
# Title Authors Year
1
A Case of Ankyloblepharon-ectodermal Defects-cleft Lip/palate-syndrome with Choanal Atresia and Skin Erosions: Phenotypic Variability of TP63-related Disorders. ( 29956718 )
2018
2
Choanal Atresia and Craniosynostosis: Development and Disease. ( 29280877 )
2018
3
Novel Application of Steroid Eluting Stents in Choanal Atresia Repair: A Case Series. ( 27913724 )
2017
4
Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia. ( 28905882 )
2017
5
KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection. ( 27991736 )
2017
6
Rdh10 loss-of-function and perturbed retinoid signaling underlies the etiology of choanal atresia. ( 28169399 )
2017
7
Airway management in neonate with Microcuff(Ar) Pediatric endotracheal tube for correction of bilateral choanal atresia. ( 26957717 )
2016
8
The endoscopic transseptal approach for choanal atresia repair. ( 26879228 )
2016
9
Congenital bilateral adult choanal atresia undiagnosed until the second decade: How we did it. ( 27658184 )
2016
10
Anesthesia Management in Patients With Choanal Atresia. ( 28005740 )
2016
11
Treatment of Congenital Choanal Atresia via Transnasal Endoscopic Method. ( 28045821 )
2016
12
False Computed Tomography Findings in Bilateral Choanal Atresia. ( 27096022 )
2016
13
Masking of the Symptoms of Bilateral Congenital Choanal Atresia by a Coexisting Anomaly of the Upper Lip. ( 27771683 )
2016
14
Endoscopic bilateral congenital choanal atresia repair of 112 cases, evolving concept and technical experience. ( 27240494 )
2016
15
Bilateral choanal atresia in an adult woman with pycnodysostosis. ( 27933642 )
2016
16
Anesthesia Management in Patients With Choanal Atresia. ( 27617820 )
2016
17
Respiratory Distress Secondary to Rhabdomyosarcoma of the Tongue and Co-existent Choanal Atresia. ( 27408448 )
2016
18
Endoscopic repair of bilateral choanal atresia, starting with vomer resection: Evaluation study. ( 27216343 )
2016
19
Surgical treatment of choanal atresia with transnasal endoscopic approach with stentless single side-hinged flap technique: 5 year retrospective analysis. ( 27174773 )
2016
20
Two decades to diagnose bilateral congenital choanal atresia: is this delay acceptable? ( 25982121 )
2015
21
CHOANAL ATRESIA AND HIRSCHSPRUNG'S DISEASE ARE "LEGITIMATE" TRAITS OF DISTAL TRISOMY 4q. ( 26852517 )
2015
22
Current Updates on Choanal Atresia. ( 26106591 )
2015
23
To stent or not to stent? A meta-analysis of endonasal congenital bilateral choanal atresia repair. ( 26014684 )
2015
24
Partial trisomy 4q and partial monosomy 9p in a girl with choanal atresia and various dysmorphic findings. ( 25979671 )
2015
25
Choanal atresia: histochemical, immunohistochemical and ultrastructure study of the nasal mucosa. ( 25541001 )
2015
26
Are stents beneficial in endoscopic choanal atresia repair of newborns and children? Case series of 11 patients. ( 26469862 )
2015
27
Management of congenital choanal atresia: a pedodontist's role. ( 26156284 )
2015
28
The efficacy of mitomycin and stenting in choanal atresia repair: A 20 year experience. ( 24367937 )
2014
29
Descriptive and risk factor analysis for choanal atresia: The National Birth Defects Prevention Study, 1997-2007. ( 24576610 )
2014
30
Bart's Syndrome Associated Corpus Callosum Agenesis and Choanal Atresia. ( 25657775 )
2014
31
Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13. ( 24807585 )
2014
32
Unilateral choanal atresia in a child with recurrent infections. ( 25439385 )
2014
33
Choanal Atresia: Surgical Management by Hegar's Dilators. ( 25032113 )
2014
34
Unilateral blindness: a unique complication of choanal atresia surgery. ( 24411066 )
2014
35
Patients with congenital choanal atresia treated by transnasal endoscopic surgery. ( 24657974 )
2014
36
Association of nasal nostril stenosis with bilateral choanal atresia: a case report. ( 24505574 )
2014
37
A 20-year experience in microsurgical treatment of choanal atresia. ( 24556158 )
2014
38
Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations. ( 25387991 )
2014
39
Conservative management of bilateral choanal atresia? Bilateral choanal atresia diagnosed in a 5-year-old girl. ( 24798366 )
2014
40
Transnasal endoscopic treatment of bilateral choanal atresia in newborns using balloon dilatation: own results and review of literature. ( 24445248 )
2014
41
Long-term outcomes of endonasal surgery for choanal atresia: 28 years experience in an academic medical centre. ( 22392520 )
2013
42
Bilateral sinonasal polyposis in a patient with unilateral choanal atresia. ( 22965465 )
2013
43
Management of bilateral congenital choanal atresia. ( 23416814 )
2013
44
Bilateral Choanal atresia in a 7-year-old boy: A Case Study. ( 24633282 )
2013
45
Endoscopic treatment of choanal atresia. ( 23896489 )
2013
46
Bart's syndrome associated with pyloric and choanal atresia. ( 24192685 )
2013
47
Endoscopic management of congenital bilateral posterior choanal atresia: value of using stents. ( 22441680 )
2013
48
Choanal atresia in a cat. ( 23289931 )
2013
49
Maternal residential atrazine exposure and risk for choanal atresia and stenosis in offspring. ( 23036484 )
2013
50
Evaluation of CHD7 as a candidate gene for choanal atresia in alpacas (Vicugna pacos). ( 23932654 )
2013

Variations for Choanal Atresia, Posterior

ClinVar genetic disease variations for Choanal Atresia, Posterior:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CHD7 NM_017780.3(CHD7): c.2867C> A (p.Ser956Ter) single nucleotide variant Likely pathogenic rs367557471 GRCh37 Chromosome 8, 61734614: 61734614
2 CHD7 NM_017780.3(CHD7): c.2867C> A (p.Ser956Ter) single nucleotide variant Likely pathogenic rs367557471 GRCh38 Chromosome 8, 60822055: 60822055

Copy number variations for Choanal Atresia, Posterior from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 160272 22 11800000 24300000 Microdeletion choanal atresia

Expression for Choanal Atresia, Posterior

Search GEO for disease gene expression data for Choanal Atresia, Posterior.

Pathways for Choanal Atresia, Posterior

Pathways related to Choanal Atresia, Posterior according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.35 EFTUD2 TXNL4A

GO Terms for Choanal Atresia, Posterior

Cellular components related to Choanal Atresia, Posterior according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 U4/U6 x U5 tri-snRNP complex GO:0046540 8.62 EFTUD2 TXNL4A

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

# Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 9.61 CHD7 FGFR2 RDH10
2 inner ear morphogenesis GO:0042472 9.48 CHD7 FGFR2
3 embryonic organ development GO:0048568 9.46 FGFR2 RDH10
4 roof of mouth development GO:0060021 9.43 CHD7 FOXE1 SATB2
5 hair follicle morphogenesis GO:0031069 9.4 FGFR2 FOXE1
6 embryonic pattern specification GO:0009880 9.37 FGFR2 SATB2
7 regulation of fibroblast growth factor receptor signaling pathway GO:0040036 9.32 FAM20C FGFR2
8 bud elongation involved in lung branching GO:0060449 9.16 FGFR2 RDH10
9 nose development GO:0043584 8.96 CHD7 RDH10
10 embryonic organ morphogenesis GO:0048562 8.62 FGFR2 FOXE1

Sources for Choanal Atresia, Posterior

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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