PCA
MCID: CHN065
MIFTS: 48

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 58 29 54 6 44 15 70 32
Posterior Choanal Atresia 12 29
Imperforate Nares 12
Atresia of Nares 12
Pca 57

Characteristics:

Orphanet epidemiological data:

58
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:

Orphanet: 58  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:9574
OMIM® 57 608911
ICD9CM 34 748.0
SNOMED-CT 67 156934002
ICD10 32 Q30.0
MESH via Orphanet 45 D002754
ICD10 via Orphanet 33 Q30.0
UMLS via Orphanet 71 C0008297
Orphanet 58 ORPHA137914
MedGen 41 C0220723
UMLS 70 C0008297 C0220723

Summaries for Choanal Atresia, Posterior

MalaCards based summary : Choanal Atresia, Posterior, also known as choanal atresia, is related to burn-mckeown syndrome and hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate. An important gene associated with Choanal Atresia, Posterior is CHD7 (Chromodomain Helicase DNA Binding Protein 7). The drugs mometasone furoate and Anti-Inflammatory Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and thyroid, and related phenotypes are nasal obstruction and chronic sinusitis

More information 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 383)
# Related Disease Score Top Affiliating Genes
1 burn-mckeown syndrome 32.8 TXNL4A EFTUD2
2 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 32.2 TBX22 FOXE1
3 mandibulofacial dysostosis, guion-almeida type 32.2 TXNL4A EFTUD2
4 charge syndrome 31.2 TCOF1 TACR3 PROKR2 PROK2 FOXE1 FGF8
5 esophageal atresia 31.0 TCOF1 EFTUD2 CHD7
6 treacher collins syndrome 1 30.8 TXNL4A TCOF1 EFTUD2 CHD7 CFAP47
7 heart septal defect 30.8 FGF8 CHD7 CFAP47
8 dysostosis 30.7 TCOF1 EFTUD2 CFAP47
9 cleft palate, isolated 30.7 TCOF1 TBX22 FOXE1 FGF8 EFTUD2
10 anus, imperforate 30.5 SPINT2 FGF8 CHD7 CFAP47
11 microtia 30.3 TCOF1 EFTUD2
12 hemifacial microsomia 30.2 TCOF1 FGF8 EFTUD2
13 atrial heart septal defect 30.1 FGF8 CHD7 CFAP47
14 ankyloglossia with or without tooth anomalies 30.1 TBX22 TBC1D32
15 sensorineural hearing loss 29.6 TACR3 PROKR2 PROK2 NSMF FGF8 CHD7
16 hypogonadotropic hypogonadism 29.2 TACR3 PROKR2 PROK2 NSMF FGF8 CHD7
17 hypogonadism 29.2 TACR3 PROKR2 PROK2 NSMF FGF8 CHD7
18 cryptorchidism, unilateral or bilateral 29.1 TACR3 PROKR2 PROK2 NSMF FGF8 CHD7
19 coloboma of macula 29.1 TCOF1 TBC1D32 TACR3 PROKR2 PROK2 FGF8
20 kallmann syndrome 29.0 TBX22 TACR3 PROKR2 PROK2 NSMF FGF8
21 bosma arhinia microphthalmia syndrome 11.8
22 choanal atresia and lymphedema 11.8
23 radial ray hypoplasia with choanal atresia 11.7
24 mental retardation, x-linked 99, syndromic, female-restricted 11.7
25 bamforth syndrome 11.4
26 posterior cortical atrophy 11.4
27 choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 11.3
28 choanal atresia, bilateral 11.2
29 choanal atresia, unilateral 11.2
30 intractable diarrhea-choanal atresia-eye anomalies syndrome 11.1
31 amyloidosis, primary localized cutaneous, 1 11.1
32 beare-stevenson cutis gyrata syndrome 11.1
33 gapo syndrome 11.1
34 nijmegen breakage syndrome 11.1
35 raine syndrome 11.1
36 restrictive dermopathy, lethal 11.1
37 crouzon syndrome with acanthosis nigricans 11.1
38 diarrhea 5, with tufting enteropathy, congenital 11.1
39 treacher collins syndrome 4 11.1
40 antley-bixler syndrome 11.1
41 cytochrome p450 oxidoreductase deficiency 11.1
42 ichthyosis follicularis atrichia photophobia syndrome 11.1
43 methimazole antenatal exposure 11.1
44 warfarin syndrome 11.1
45 primary cutaneous amyloidosis 10.9
46 pain agnosia 10.8
47 branchiootic syndrome 1 10.5
48 cyanosis, transient neonatal 10.5
49 prostate cancer 10.5
50 cleft lip 10.4

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



Diseases related to Choanal Atresia, Posterior

Symptoms & Phenotypes for Choanal Atresia, Posterior

Human phenotypes related to Choanal Atresia, Posterior:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nasal obstruction 58 31 frequent (33%) Frequent (79-30%) HP:0001742
2 chronic sinusitis 58 31 frequent (33%) Frequent (79-30%) HP:0011109
3 abnormal nasal mucus secretion 58 31 frequent (33%) Frequent (79-30%) HP:0031416
4 recurrent respiratory infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0002205
5 laryngomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001601
6 craniosynostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001363
7 tracheomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002779
8 feeding difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0011968
9 respiratory distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0002098
10 cyanosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000961
11 upper airway obstruction 58 31 occasional (7.5%) Occasional (29-5%) HP:0002781
12 subglottic stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001607
13 choking episodes 58 31 occasional (7.5%) Occasional (29-5%) HP:0030842
14 inappropriate crying 58 31 occasional (7.5%) Occasional (29-5%) HP:0030215
15 mandibulofacial dysostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0005321
16 polydactyly 58 31 very rare (1%) Very rare (<4-1%) HP:0010442

Clinical features from OMIM®:

608911 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Choanal Atresia, Posterior:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 10.11 ALDH1A3 CHD7 FAM20C FGF8 FOXE1 NSMF
2 growth/size/body region MP:0005378 10.07 ALDH1A3 CHD7 EFTUD2 FAM20C FGF8 FOXE1
3 craniofacial MP:0005382 10.06 ALDH1A3 CHD7 FAM20C FGF8 FOXE1 RDH10
4 endocrine/exocrine gland MP:0005379 10.06 ALDH1A3 CHD7 FAM20C FGF8 FOXE1 NSMF
5 limbs/digits/tail MP:0005371 9.7 CHD7 FAM20C FGF8 RDH10 SPINT2 TBC1D32
6 reproductive system MP:0005389 9.65 CHD7 CHD9 EFTUD2 FAM20C FGF8 NSMF
7 respiratory system MP:0005388 9.17 ALDH1A3 CHD7 FGF8 RDH10 TBC1D32 TBX22

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-Inflammatory Agents Phase 4
3 Dermatologic Agents Phase 4
4 Anti-Allergic Agents Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Use of Mometasone Eluting Stent in Choanal Atresia Terminated NCT03605537 Phase 4 Drug-eluting Stent Mometasone
2 Stentless Endoscopic Transnasal Transseptal Choanoplasty Unknown status NCT03167463

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:

40
Bone, Brain, Thyroid, Heart, Cerebellum, Salivary Gland, Skin

Publications for Choanal Atresia, Posterior

Articles related to Choanal Atresia, Posterior:

(show top 50) (show all 1158)
# Title Authors PMID Year
1
Choanal atresia associated with prenatal methimazole exposure: three new patients. 57 61
15266622 2004
2
An autosomal recessive syndrome of choanal atresia, hypothelia/athelia and thyroid gland anomalies overlapping bamforth syndrome, ANOTHER syndrome and methimazole embryopathy. 61 57
12002153 2002
3
Familial choanal atresia with maxillary hypoplasia, prognathism, and hypodontia. 57 61
11102930 2000
4
A further case of choanal atresia in the deletion (9p) syndrome. 61 57
9856581 1998
5
Choanal atresia and hypothelia following methimazole exposure in utero: a second report. 57 61
9450891 1998
6
Epidemiology of choanal atresia with special reference to the CHARGE association. 57 61
9041289 1997
7
Choanal atresia in a patient with the deletion (9p) syndrome. 57 61
8172257 1994
8
Choanal atresia: evidence for autosomal recessive inheritance. 57 61
1481842 1992
9
Choanal atresia and athelia: methimazole teratogenicity or a new syndrome? 61 57
3688031 1987
10
Inheritance of posterior choanal atresia. 57 61
7158640 1982
11
Congenital choanal atresia and its heredity. 61 57
5970737 1966
12
[Familial incidence of congenital choanal atresia]. 61 57
5995326 1966
13
FAMILIAL INCIDENCE OF POSTERIOR CHOANAL ATRESIA. 61 57
14161133 1964
14
Congenital choanal atresia. 57 61
14775107 1950
15
A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis. 54 61
16882747 2006
16
A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. 54 61
12165566 2002
17
Distribution of the titf2/foxe1 gene product is consistent with an important role in the development of foregut endoderm, palate, and hair. 54 61
12203737 2002
18
Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia. 54 61
9697705 1998
19
Antenatal diagnosis of CHARGE syndrome: Prenatal ultrasound findings and crucial role of fetal dysmorphic signs. About a series of 10 cases and review of literature. 61
33662639 2021
20
Features and Strategies in the Management of Choanal Atresia: A 6-Year Retrospective Analysis. 61
33770044 2021
21
Endoscopic endonasal repair of complete bilateral choanal atresia in neonates. 61
33709157 2021
22
Congenital bony nasal cavity stenosis: A review of current trends in diagnosis and treatment. 61
33706014 2021
23
Lasers in Rhinology-An Update. 61
32703032 2021
24
Staged repair of truncus arteriosus with double aortic arch, tracheoesophageal fistula, and choanal atresia via a multi-disciplinary approach: a case report. 61
33708532 2021
25
Bartsocas-Papas syndrome: The first case report of severe autosomal recessive form from Indonesia. 61
33529824 2021
26
Prenatal Sonographic Features of CHARGE Syndrome. 61
33671041 2021
27
Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses. 61
33184947 2021
28
CHARGE syndrome in the era of molecular diagnosis: Similar outcomes in those without coloboma or choanal atresia. 61
33189935 2021
29
Diagnostics and therapy of bilateral choanal atresia in association with CHARGE syndrome. 61
32741782 2021
30
Nasal Cavity CT Imaging Contribution to the Diagnosis and Treatment of Choanal Atresia. 61
33494264 2021
31
Performance of endoscopic repair with endonasal flaps for congenital choanal atresia. A systematic review. 61
32439138 2021
32
Choanal atresia surgery: outcomes in 42 patients over 20 years and a review of the literature. 61
33386964 2021
33
Endonasal choanal atresia repair; evaluating the surgical results of 58 cases. 61
33686836 2021
34
Pediatric unilateral isolated choanal atresia is not associated with mandibular condyle hypoplasia. 61
33221635 2021
35
[Features of the architectonics of the structures of the nasal cavity and choanal zone in children with congenital malformations of the eyes]. 61
33720654 2021
36
Neonatal nasal obstruction. 61
33388986 2021
37
Optimizing Airway Surgery in COVID 19 Era. 61
33432295 2021
38
Ophthalmic Abnormalities among Children Treated with Cochlear Implants. 61
33136008 2020
39
Peruvian Newborn Male with 3p13 Deletion Syndrome Encompassing the FOXP1 Gene: Review of the Literature. 61
32765932 2020
40
An Unusual Form of Choanal Atresia in a Full-term Newborn. 61
33324520 2020
41
Characterization of the Robinow syndrome skeletal phenotype, bone micro-architecture, and genotype-phenotype correlations with the osteosclerotic form. 61
32888393 2020
42
Parapharyngeal Neuroglial Heterotopia: A Case Report and Literature Review. 61
33156818 2020
43
Transfer of patients from a regional centre to a tertiary paediatric hospital for acute otolaryngology management: When is it necessary? 61
32584434 2020
44
Use of Steroid-Eluting Stents after Endoscopic Repair of Choanal Atresia: A Case Series with Review. 61
32468891 2020
45
Teratogen update: Antithyroid medications. 61
32738035 2020
46
Pfeiffer Syndrome type 2; A case report of cranio-orbitofaciostenosis with bilateral choanal atresia at Muhimbili National Hospital, Tanzania. 61
32983461 2020
47
Concomitant Gallbladder Agenesis with Methimazole Embryopathy. 61
32898128 2020
48
Congenital nasal piriform aperture atresia: A case report and novel finding. 61
32512323 2020
49
Case 3: Premature Infant with Bilateral Choanal Atresia and Esophageal Atresia/Tracheoesophageal Fistula. 61
32737176 2020
50
Ectrodactyly-ectodermal dysplasia-clefting syndrome presenting with bilateral choanal atresia and rectal stenosis. 61
32476291 2020

Variations for Choanal Atresia, Posterior

ClinVar genetic disease variations for Choanal Atresia, Posterior:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHD7 NM_017780.4(CHD7):c.2867C>A (p.Ser956Ter) SNV Likely pathogenic 523522 rs367557471 GRCh37: 8:61734614-61734614
GRCh38: 8:60822055-60822055

Copy number variations for Choanal Atresia, Posterior from CNVD:

7
# CNVD ID Chromosome 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

GO Terms for Choanal Atresia, Posterior

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 neural crest cell development GO:0014032 9.49 TCOF1 RDH10
2 thyroid gland development GO:0030878 9.48 FOXE1 FGF8
3 face development GO:0060324 9.46 CHD7 ALDH1A3
4 aorta morphogenesis GO:0035909 9.43 FGF8 CHD7
5 roof of mouth development GO:0060021 9.43 TBC1D32 FOXE1 CHD7
6 retinal metabolic process GO:0042574 9.4 RDH10 ALDH1A3
7 gonad development GO:0008406 9.37 RDH10 FGF8
8 inner ear morphogenesis GO:0042472 9.33 FGF8 CHD7 ALDH1A3
9 embryonic camera-type eye development GO:0031076 9.32 RDH10 ALDH1A3
10 retinoic acid biosynthetic process GO:0002138 8.96 RDH10 ALDH1A3
11 nose development GO:0043584 8.8 RDH10 CHD7 ALDH1A3

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity, acting on acid anhydrides GO:0016817 8.62 CHD9 CHD7

Sources for Choanal Atresia, Posterior

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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