PCA
MCID: CHN065
MIFTS: 46

Choanal Atresia, Posterior (PCA)

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

Aliases & Classifications for Choanal Atresia, Posterior

MalaCards integrated aliases for Choanal Atresia, Posterior:

Name: Choanal Atresia, Posterior 58 45
Choanal Atresia 12 60 30 56 6 45 15 74
Posterior Choanal Atresia 12 30
Imperforate Nares 12
Atresia of Nares 12
Pca 58

Characteristics:

Orphanet epidemiological data:

60
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:

Disease Ontology 12 DOID:9574
OMIM 58 608911
ICD9CM 36 748.0
SNOMED-CT 69 14988006 53458004
ICD10 34 Q30.0
MESH via Orphanet 46 D002754
ICD10 via Orphanet 35 Q30.0
UMLS via Orphanet 75 C0008297
Orphanet 60 ORPHA137914
MedGen 43 C0220723

Summaries for Choanal Atresia, Posterior

MalaCards based summary : Choanal Atresia, Posterior, also known as choanal atresia, is related to charge syndrome and mandibulofacial dysostosis, guion-almeida type. An important gene associated with Choanal Atresia, Posterior is FOXE1 (Forkhead Box E1), and among its related pathways/superpathways is mRNA Splicing - Minor Pathway. The drugs mometasone furoate and Anti-Allergic Agents have been mentioned in the context of this disorder. Affiliated tissues include prostate, heart 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 168)
# Related Disease Score Top Affiliating Genes
1 charge syndrome 33.6 CHD7 FOXE1
2 mandibulofacial dysostosis, guion-almeida type 32.5 CHD7 EFTUD2 TXNL4A
3 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 31.9 FGFR2 FOXE1
4 treacher collins syndrome 1 30.6 EFTUD2 TXNL4A
5 esophageal atresia 30.5 CHD7 EFTUD2
6 cleft palate, isolated 30.3 FGFR2 FOXE1 TBX22
7 cleft lip/palate 29.9 FOXE1 TBX22
8 choanal atresia and lymphedema 12.8
9 arhinia choanal atresia microphthalmia 12.7
10 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 12.7
11 radial ray hypoplasia with choanal atresia 12.6
12 choanal atresia, bilateral 12.5
13 choanal atresia, unilateral 12.4
14 x-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability 12.3
15 intractable diarrhea-choanal atresia-eye anomalies syndrome 12.3
16 burn-mckeown syndrome 12.2
17 posterior cortical atrophy 12.0
18 mental retardation, x-linked 99, syndromic, female-restricted 11.9
19 bamforth syndrome 11.8
20 bosma arhinia microphthalmia syndrome 11.7
21 amyloidosis, primary localized cutaneous, 1 11.2
22 gapo syndrome 11.2
23 nijmegen breakage syndrome 11.2
24 raine syndrome 11.2
25 restrictive dermopathy, lethal 11.2
26 diarrhea 5, with tufting enteropathy, congenital 11.2
27 antley-bixler syndrome 11.2
28 ichthyosis follicularis atrichia photophobia syndrome 11.2
29 methimazole antenatal exposure 11.2
30 warfarin syndrome 11.2
31 primary cutaneous amyloidosis 11.1
32 prostate cancer 10.5
33 prostate cancer, hereditary, 8 10.5
34 prostate cancer, hereditary, 6 10.5
35 heart disease 10.4
36 pain agnosia 10.3
37 tetralogy of fallot 10.2
38 solitary median maxillary central incisor 10.2
39 tracheoesophageal fistula with or without esophageal atresia 10.2
40 ectodermal dysplasia 10.2
41 tinea favosa 10.2 CHD7 FOXE1
42 platelet membrane fluidity 10.2
43 coloboma of macula 10.1
44 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 10.1
45 split-hand/foot malformation 1 10.1
46 polydactyly 10.1
47 nasopharyngeal carcinoma 10.1
48 craniosynostosis 10.1
49 dysostosis 10.1
50 chromosomal triplication 10.1

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.85 CHD7 FAM20C FGFR2 FOXE1 RDH10 TBX22
2 digestive/alimentary MP:0005381 9.8 CHD7 FAM20C FGFR2 FOXE1 RDH10 TBX22
3 homeostasis/metabolism MP:0005376 9.63 CHD7 EFTUD2 FAM20C FGFR2 FOXE1 RDH10
4 hearing/vestibular/ear MP:0005377 9.56 CHD7 FAM20C FGFR2 RDH10
5 limbs/digits/tail MP:0005371 9.35 CHD7 FAM20C FGFR2 RDH10 SPINT2
6 mortality/aging MP:0010768 9.23 CHD7 EFTUD2 FAM20C FGFR2 FOXE1 RDH10

Drugs & Therapeutics for Choanal Atresia, Posterior

Drugs for Choanal Atresia, Posterior (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
mometasone furoate Approved, Investigational, Vet_approved Phase 4 83919-23-7
2 Anti-Allergic Agents Phase 4
3 Dermatologic Agents Phase 4
4 Anti-Inflammatory Agents Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Use of Mometasone Eluting Stent in Choanal Atresia Recruiting NCT03605537 Phase 4 Drug-eluting Stent Mometasone
2 Stentless Endoscopic Transnasal Transseptal Choanoplasty Unknown status 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 30
2 Posterior Choanal Atresia 30

Anatomical Context for Choanal Atresia, Posterior

MalaCards organs/tissues related to Choanal Atresia, Posterior:

42
Prostate, Heart, Bone, Thyroid, Eye, Brain, Testes

Publications for Choanal Atresia, Posterior

Articles related to Choanal Atresia, Posterior:

(show top 50) (show all 551)
# Title Authors Year
1
Prognostic Factors and Management of Patients with Choanal Atresia. ( 30291020 )
2019
2
Choanal atresia and stenosis: Development and diseases of the nasal cavity. ( 30320458 )
2019
3
Reducing the need for general anesthesia in the repair of choanal atresia with steroid-eluting stents: A case series. ( 30639990 )
2019
4
Immediate versus delayed surgery in congenital choanal atresia: A systematic review. ( 30665176 )
2019
5
Short-Term Risk Factor Profile of Pediatric Choanal Atresia Repair Using ACS-NSQIP National Database. ( 31067984 )
2019
6
International Pediatric Otolaryngology Group (IPOG) consensus recommendations: Diagnosis, pre-operative, operative and post-operative pediatric choanal atresia care. ( 31103745 )
2019
7
A Case of Ankyloblepharon-ectodermal Defects-cleft Lip/Palate-syndrome with Choanal Atresia and Skin Erosions: Phenotypic Variability of TP63-related Disorders. ( 29956718 )
2018
8
Choanal Atresia and Craniosynostosis: Development and Disease. ( 29280877 )
2018
9
Familial congenital choanal atresia with GATA3 associated hypoparathyroidism-deafness-renal dysplasia syndrome unidentified on auditory brainstem response. ( 30396722 )
2018
10
Iatrogenic traumatic optic neuropathy: report of an injury occurring during a choanal atresia correction surgery treatment. ( 29720335 )
2018
11
Stentless mirrored L-shaped septonasal flap versus stented flapless technique for endoscopic endonasal repair of bilateral congenital choanal atresia: a prospective randomised controlled study. ( 29335043 )
2018
12
Choanal Atresia: Birth Without Breath. ( 29456944 )
2018
13
Early Transient Prenatal Ultrasound Features of Choanal Atresia. ( 29480518 )
2018
14
The Pathogenesis of Choanal Atresia. ( 29955759 )
2018
15
Congenital Choanal Atresia Repair: An Analysis of Adverse Perioperative Events. ( 30149770 )
2018
16
Skull base anatomy and surgical safety in isolated and CHARGE-associated bilateral choanal atresia. ( 30368396 )
2018
17
Choanal Atresia and Other Neonatal Nasal Anomalies. ( 30396416 )
2018
18
Completely Endoscopic Approach Using a Skeeter Drill to Treat Bilateral Congenital Choanal Atresia in a 33 Week Born Pre-term Baby. ( 30464926 )
2018
19
Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia. ( 28905882 )
2017
20
Bilateral choanal atresia in an adult woman with pycnodysostosis. ( 27933642 )
2017
21
Two decades to diagnose bilateral congenital choanal atresia: is this delay acceptable? ( 25982121 )
2017
22
Surgical treatment of choanal atresia with transnasal endoscopic approach with stentless single side-hinged flap technique: 5 year retrospective analysis. ( 27174773 )
2017
23
Novel Application of Steroid Eluting Stents in Choanal Atresia Repair: A Case Series. ( 27913724 )
2017
24
KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection. ( 27991736 )
2017
25
Treatment of Congenital Choanal Atresia via Transnasal Endoscopic Method. ( 28045821 )
2017
26
Rdh10 loss-of-function and perturbed retinoid signaling underlies the etiology of choanal atresia. ( 28169399 )
2017
27
The effects of choanal atresia on development of the paranasal sinuses and turbinates. ( 28289870 )
2017
28
Use of a novel surgical approach for treatment of complete bilateral membranous choanal atresia in an alpaca cria. ( 28414605 )
2017
29
An Italian multicentre experience in endoscopic endonasal treatment of congenital choanal atresia: Proposal for a novel classification system of surgical outcomes. ( 28476356 )
2017
30
Comprehensive management of congenital choanal atresia. ( 28583512 )
2017
31
A rare case report of bilateral choanal atresia in an adult. ( 28667919 )
2017
32
Impact of Successful Choanal Atresia Repair on the Nasal Mucosa: A Preliminary Study. ( 28680498 )
2017
33
Stentless endoscopic repair of congenital choanal atresia: is it enough for maintaining choanal patency? ( 28801718 )
2017
34
Respiratory Distress Secondary to Rhabdomyosarcoma of the Tongue and Co-existent Choanal Atresia. ( 27408448 )
2016
35
To stent or not to stent? A meta-analysis of endonasal congenital bilateral choanal atresia repair. ( 26014684 )
2016
36
Are stents beneficial in endoscopic choanal atresia repair of newborns and children? Case series of 11 patients. ( 26469862 )
2016
37
The endoscopic transseptal approach for choanal atresia repair. ( 26879228 )
2016
38
Airway management in neonate with Microcuff(®) Pediatric endotracheal tube for correction of bilateral choanal atresia. ( 26957717 )
2016
39
False Computed Tomography Findings in Bilateral Choanal Atresia. ( 27096022 )
2016
40
Endoscopic repair of bilateral choanal atresia, starting with vomer resection: Evaluation study. ( 27216343 )
2016
41
Endoscopic bilateral congenital choanal atresia repair of 112 cases, evolving concept and technical experience. ( 27240494 )
2016
42
Congenital bilateral adult choanal atresia undiagnosed until the second decade: How we did it. ( 27658184 )
2016
43
Masking of the Symptoms of Bilateral Congenital Choanal Atresia by a Coexisting Anomaly of the Upper Lip. ( 27771683 )
2016
44
Anesthesia Management in Patients With Choanal Atresia. ( 28005740 )
2016
45
Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations. ( 25387991 )
2015
46
Choanal atresia: histochemical, immunohistochemical and ultrastructure study of the nasal mucosa. ( 25541001 )
2015
47
Partial trisomy 4q and partial monosomy 9p in a girl with choanal atresia and various dysmorphic findings. ( 25979671 )
2015
48
Current Updates on Choanal Atresia. ( 26106591 )
2015
49
Management of congenital choanal atresia: a pedodontist's role. ( 26156284 )
2015
50
CHOANAL ATRESIA AND HIRSCHSPRUNG'S DISEASE ARE "LEGITIMATE" TRAITS OF DISTAL TRISOMY 4q. ( 26852517 )
2015

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 9.54 CHD7 FGFR2 RDH10
2 roof of mouth development GO:0060021 9.46 CHD7 FOXE1
3 inner ear morphogenesis GO:0042472 9.43 CHD7 FGFR2
4 embryonic organ development GO:0048568 9.4 FGFR2 RDH10
5 hair follicle morphogenesis GO:0031069 9.32 FGFR2 FOXE1
6 bud elongation involved in lung branching GO:0060449 9.26 FGFR2 RDH10
7 nose development GO:0043584 9.16 CHD7 RDH10
8 regulation of fibroblast growth factor receptor signaling pathway GO:0040036 8.96 FAM20C FGFR2
9 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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