MCID: CHN005
MIFTS: 39

Choanal Atresia malady

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

Aliases & Classifications for Choanal Atresia

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Sources:
22GeneTests, 10Disease Ontology, 47Novoseek, 12DISEASES, 51Orphanet, 36MeSH, 65UMLS, 24GTR, 27ICD10, 29ICD9CM, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Choanal Atresia:

Name: Choanal Atresia 10 47 12 51 36 65
Choanal Atresia, Posterior 22 24
Posterior Choanal Atresia 10
 
Imperforate Nares 10
Atresia of Nares 10
Pca 22

Characteristics:

Orphanet epidemiological data:

51
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: Infancy,Neonatal

Classifications:



External Ids:

Disease Ontology10 DOID:9574
ICD1027 Q30.0
ICD9CM29 748.0
Orphanet51 137914
ICD10 via Orphanet28 Q30.0
MESH via Orphanet37 D002754
UMLS via Orphanet66 C0008297
UMLS65 C0008297, C0220723

Summaries for Choanal Atresia

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Wikipedia:68 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 choanal atresia and lymphedema and choanal atresia, unilateral. An important gene associated with Choanal Atresia is FOXE1 (Forkhead Box E1). Affiliated tissues include lung, brain and liver, and related mouse phenotypes are craniofacial and hearing/vestibular/ear.

Related Diseases for Choanal Atresia

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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 Atresia, Posterior22

Anatomical Context for Choanal Atresia

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MalaCards organs/tissues related to Choanal Atresia:

33
Lung, Brain, Liver, Neutrophil, Endothelial, Kidney, Breast

Animal Models for Choanal Atresia or affiliated genes

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MGI Mouse Phenotypes related to Choanal Atresia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.2CHD7, FAM20C, FOXE1, PTPN14, TCOF1
2MP:00053778.2ATP8A2, CHD7, FAM20C, TCOF1
3MP:00053917.9ATP8A2, CHD7, FAM20C, PTPN14, TCOF1
4MP:00053797.5ALB, ATP8A2, CHD7, FAM20C, FOXE1, TCOF1
5MP:00053817.3ALB, ATP8A2, CHD7, FAM20C, FOXE1, TCOF1

Publications for Choanal Atresia

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Articles related to Choanal Atresia:

(show top 50)    (show all 496)
idTitleAuthorsYear
1
Ellis-van Creveld syndrome presenting in the second decade. (26323981)
2015
2
MNRR1 (formerly CHCHD2) is a bi-organellar regulator of mitochondrial metabolism. (25315652)
2015
3
Periostin controls keratinocyte proliferation and differentiation by interacting with the paracrine IL-1I+/IL-6 loop. (24352037)
2014
4
Pancreatitis due to afferent loop obstruction. (24240803)
2013
5
Alterations in affective behavior during the time course of alcohol hangover. (23850352)
2013
6
Malignant transformation of endometriosis in a cesarean section abdominal wall scar: a case report. (23763014)
2013
7
Coordinated interactions of multiple POT1-TPP1 proteins with telomere DNA. (23616058)
2013
8
Trends in epidemiology, clinical and histopathological characteristics of breast cancer in iran: results of a 17 year study. (24377624)
2013
9
The HCN4 channel mutation D553N associated with bradycardia has a C-linker mediated gating defect. (23075627)
2012
10
Critical Ebstein anomaly in a fetus successfully managed by elective preterm delivery and surgical intervention without delay after birth. (21947353)
2012
11
An N-terminal truncated carboxypeptidase E splice isoform induces tumor growth and is a biomarker for predicting future metastasis in human cancers. (21285511)
2011
12
Angiomatous meningioma of orbit mimicking as malignant neoplasm: a case report and literature review. (21780930)
2011
13
Regulation of the microRNA processor DGCR8 by the tumor suppressor ING1. (20179197)
2010
14
Gastroesophageal intussusception in a German shepherd. (20957610)
2010
15
Detection of Human Papilloma Virus (HPV) in oral mucosa of women with cervical lesions and their relation to oral sex practices. (21129222)
2010
16
Association between metabolic disturbances and G-174C polymorphism of interleukin-6 gene in obese children. (20156756)
2009
17
Effects of the antipsychotic drug haloperidol on the somastostatinergic system in SH-SY5Y neuroblastoma cells. (19457089)
2009
18
Doing the month: rickets and post-partum convalescence in rural China. (18276049)
2009
19
Rate of eradication of group A beta-hemolytic streptococci in children with pharyngo-tonsillitis by amoxicillin and cefdinir. (19285734)
2009
20
Synchronous autoimmune pancreatitis and infiltrating pancreatic ductal adenocarcinoma: case report and review of the literature. (18619645)
2008
21
P19INK4D links endomitotic arrest and megakaryocyte maturation and is regulated by AML-1. (18276842)
2008
22
Changes in cell morphology and cytoskeletal organization are induced by human mitotic checkpoint gene, Bub1. (18036341)
2008
23
Upregulation of multidrug resistance-associated protein 3 by acetaminophen may help to increase its own clearance. (18043697)
2008
24
Neutral sphingomyelinase inhibition participates to the benefits of N-acetylcysteine treatment in post-myocardial infarction failing heart rats. (17707397)
2007
25
A possible role of CD4+CD25+ T cells as well as transcription factor Foxp3 in the dysregulation of allergic rhinitis. (17473687)
2007
26
Comprehensive enzymatic characterization of glycosyltransferases with a beta3GT or beta4GT motif. (17113861)
2006
27
Aromatase inhibitors in infertility treatment: risks and benefits. (19803956)
2006
28
Chlamydia pneumoniae infection enhances lectin-like oxidized low-density lipoprotein receptor (LOX-1) expression on human endothelial cells. (16790013)
2006
29
Proton pump inhibitor therapy for chronic laryngo-pharyngitis: a randomized placebo-control trial. (15467597)
2004
30
Attenuation of HIV-1 replication in primary human cells with a designed zinc finger transcription factor. (14734553)
2004
31
Sinonasal-type hemangiopericytoma: a clinicopathologic and immunophenotypic analysis of 104 cases showing perivascular myoid differentiation. (12766577)
2003
32
FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients. (12567411)
2003
33
Transcriptional repression of atherogenic inflammation: modulation by PPARdelta. (12970571)
2003
34
Effect of almitrine/raubasine on cerebral metabolism in the elderly]. (11984975)
2002
35
Acoustic neuroma surgery and tinnitus. (12115076)
2002
36
PH changes at the surface of root dentin after intracanal dressing with calcium oxide and calcium hydroxide. (11487163)
2001
37
Major histocompatibility complex class I associations in iron overload: evidence for a new link between the HFE H63D mutation, HLA-A29, and non-classical forms of hemochromatosis. (9510559)
1998
38
p53 mediates apoptosis induced by c-Myc activation in hypoxic or gamma irradiated fibroblasts. (10200458)
1998
39
Regulation of neuronal death by endogenous protective factors]. (9793072)
1998
40
A novel ubiquitin-specific protease is dynamically associated with the PML nuclear domain and binds to a herpesvirus regulatory protein. (9034339)
1997
41
Generation of antibodies to heparin-PF4 complexes without thrombocytopenia in patients treated with unfractionated or low-molecular-weight heparin. (8638647)
1996
42
Clinical/biological outcomes of treatment for pericoronitis. (8859232)
1996
43
Suppression of human immunoglobulin E antibody production by a new naphthalene derivative. (8530258)
1995
44
Late onset dysthyroid optic neuropathy. (7920007)
1994
45
Regulation of c-Src tyrosine kinase activity by the Src SH2 domain. (7683128)
1993
46
Neuropsychiatric aspects of Sydenham's chorea: a case report. (8358529)
1993
47
On the nature of serum prolactin in two patients with macroprolactinemia. (1624027)
1992
48
Burning and pain after injury. Is it causalgia or reflex sympathetic dystrophy? (3340606)
1988
49
An electrophysiological correlate of perceptual suppression in anisometropia. (726314)
1978
50

Variations for Choanal Atresia

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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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GO Terms for genes affiliated with Choanal Atresia

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Sources for Choanal Atresia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet