PCA
MCID: CHN065
MIFTS: 47

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 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
SNOMED-CT 68 14988006 53458004
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 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. Affiliated tissues include heart, bone and thyroid, 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 137)
# Related Disease Score Top Affiliating Genes
1 charge syndrome 33.4 CHD7 FOXE1
2 mandibulofacial dysostosis, guion-almeida type 32.0 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 30.4 CHD7 EFTUD2
6 cleft palate, isolated 30.2 FGFR2 FOXE1 SATB2
7 ankyloblepharon-ectodermal defects-cleft lip/palate 29.8 FGFR2 SATB2
8 choanal atresia and lymphedema 12.7
9 arhinia choanal atresia microphthalmia 12.6
10 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 12.6
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 12.2
16 burn-mckeown syndrome 12.1
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 solitary median maxillary central incisor 11.5
22 amyloidosis, primary localized cutaneous, 1 11.2
23 gapo syndrome 11.2
24 nijmegen breakage syndrome 11.2
25 raine syndrome 11.2
26 restrictive dermopathy, lethal 11.2
27 diarrhea 5, with tufting enteropathy, congenital 11.2
28 antley-bixler syndrome 11.2
29 ichthyosis follicularis atrichia photophobia syndrome 11.2
30 methimazole antenatal exposure 11.2
31 warfarin syndrome 11.2
32 primary cutaneous amyloidosis 11.1
33 prostate cancer 10.4
34 heart disease 10.4
35 tracheoesophageal fistula with or without esophageal atresia 10.2
36 ectodermal dysplasia 10.2
37 tinea favosa 10.1 CHD7 FOXE1
38 platelet membrane fluidity 10.1
39 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 10.1
40 polydactyly 10.1
41 nasopharyngeal carcinoma 10.1
42 craniosynostosis 10.1
43 dysostosis 10.1
44 chromosome 4q duplication 10.1
45 encephalocele 10.1
46 acrofacial dysostosis 1, nager type 10.1 EFTUD2 TXNL4A
47 pain agnosia 10.1
48 moyamoya disease 1 10.0
49 coffin-lowry syndrome 10.0
50 prostatitis 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 CHD7 FGFR2 RDH10 SATB2 SPINT2
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

Search Clinical Trials , 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, Bone, Thyroid, Lung, Liver, Eye, Prostate

Publications for Choanal Atresia, Posterior

Articles related to Choanal Atresia, Posterior:

(show top 50) (show all 548)
# 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
Familial congenital choanal atresia with GATA3 associated hypoparathyroidism-deafness-renal dysplasia syndrome unidentified on auditory brainstem response. ( 30396722 )
2018
4
Iatrogenic traumatic optic neuropathy: report of an injury occurring during a choanal atresia correction surgery treatment. ( 29720335 )
2018
5
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
6
Choanal Atresia: Birth Without Breath. ( 29456944 )
2018
7
Early Transient Prenatal Ultrasound Features of Choanal Atresia. ( 29480518 )
2018
8
The Pathogenesis of Choanal Atresia. ( 29955759 )
2018
9
Congenital Choanal Atresia Repair: An Analysis of Adverse Perioperative Events. ( 30149770 )
2018
10
Prognostic Factors and Management of Patients with Choanal Atresia. ( 30291020 )
2018
11
Choanal atresia and stenosis: Development and diseases of the nasal cavity. ( 30320458 )
2018
12
Skull base anatomy and surgical safety in isolated and CHARGE-associated bilateral choanal atresia. ( 30368396 )
2018
13
Choanal Atresia and Other Neonatal Nasal Anomalies. ( 30396416 )
2018
14
Completely Endoscopic Approach Using a Skeeter Drill to Treat Bilateral Congenital Choanal Atresia in a 33 Week Born Pre-term Baby. ( 30464926 )
2018
15
Novel Application of Steroid Eluting Stents in Choanal Atresia Repair: A Case Series. ( 27913724 )
2017
16
Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia. ( 28905882 )
2017
17
KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection. ( 27991736 )
2017
18
Rdh10 loss-of-function and perturbed retinoid signaling underlies the etiology of choanal atresia. ( 28169399 )
2017
19
Surgical treatment of choanal atresia with transnasal endoscopic approach with stentless single side-hinged flap technique: 5 year retrospective analysis. ( 27174773 )
2017
20
The effects of choanal atresia on development of the paranasal sinuses and turbinates. ( 28289870 )
2017
21
Use of a novel surgical approach for treatment of complete bilateral membranous choanal atresia in an alpaca cria. ( 28414605 )
2017
22
An Italian multicentre experience in endoscopic endonasal treatment of congenital choanal atresia: Proposal for a novel classification system of surgical outcomes. ( 28476356 )
2017
23
Comprehensive management of congenital choanal atresia. ( 28583512 )
2017
24
A rare case report of bilateral choanal atresia in an adult. ( 28667919 )
2017
25
Impact of Successful Choanal Atresia Repair on the Nasal Mucosa: A Preliminary Study. ( 28680498 )
2017
26
Stentless endoscopic repair of congenital choanal atresia: is it enough for maintaining choanal patency? ( 28801718 )
2017
27
Airway management in neonate with Microcuff(Ar) Pediatric endotracheal tube for correction of bilateral choanal atresia. ( 26957717 )
2016
28
The endoscopic transseptal approach for choanal atresia repair. ( 26879228 )
2016
29
Congenital bilateral adult choanal atresia undiagnosed until the second decade: How we did it. ( 27658184 )
2016
30
Anesthesia Management in Patients With Choanal Atresia. ( 28005740 )
2016
31
Treatment of Congenital Choanal Atresia via Transnasal Endoscopic Method. ( 28045821 )
2016
32
False Computed Tomography Findings in Bilateral Choanal Atresia. ( 27096022 )
2016
33
Masking of the Symptoms of Bilateral Congenital Choanal Atresia by a Coexisting Anomaly of the Upper Lip. ( 27771683 )
2016
34
Endoscopic bilateral congenital choanal atresia repair of 112 cases, evolving concept and technical experience. ( 27240494 )
2016
35
Bilateral choanal atresia in an adult woman with pycnodysostosis. ( 27933642 )
2016
36
Anesthesia Management in Patients With Choanal Atresia. ( 27617820 )
2016
37
Respiratory Distress Secondary to Rhabdomyosarcoma of the Tongue and Co-existent Choanal Atresia. ( 27408448 )
2016
38
Endoscopic repair of bilateral choanal atresia, starting with vomer resection: Evaluation study. ( 27216343 )
2016
39
Two decades to diagnose bilateral congenital choanal atresia: is this delay acceptable? ( 25982121 )
2015
40
CHOANAL ATRESIA AND HIRSCHSPRUNG'S DISEASE ARE "LEGITIMATE" TRAITS OF DISTAL TRISOMY 4q. ( 26852517 )
2015
41
Current Updates on Choanal Atresia. ( 26106591 )
2015
42
To stent or not to stent? A meta-analysis of endonasal congenital bilateral choanal atresia repair. ( 26014684 )
2015
43
Partial trisomy 4q and partial monosomy 9p in a girl with choanal atresia and various dysmorphic findings. ( 25979671 )
2015
44
Choanal atresia: histochemical, immunohistochemical and ultrastructure study of the nasal mucosa. ( 25541001 )
2015
45
Are stents beneficial in endoscopic choanal atresia repair of newborns and children? Case series of 11 patients. ( 26469862 )
2015
46
Management of congenital choanal atresia: a pedodontist's role. ( 26156284 )
2015
47
The efficacy of mitomycin and stenting in choanal atresia repair: A 20 year experience. ( 24367937 )
2014
48
Descriptive and risk factor analysis for choanal atresia: The National Birth Defects Prevention Study, 1997-2007. ( 24576610 )
2014
49
Bart's Syndrome Associated Corpus Callosum Agenesis and Choanal Atresia. ( 25657775 )
2014
50
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

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 hair follicle morphogenesis GO:0031069 9.4 FGFR2 FOXE1
5 embryonic pattern specification GO:0009880 9.37 FGFR2 SATB2
6 bud elongation involved in lung branching GO:0060449 9.32 FGFR2 RDH10
7 nose development GO:0043584 9.26 CHD7 RDH10
8 regulation of fibroblast growth factor receptor signaling pathway GO:0040036 9.16 FAM20C FGFR2
9 roof of mouth development GO:0060021 9.13 CHD7 FOXE1 SATB2
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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