MCID: CLR096
MIFTS: 36

Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus

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Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus, Aliases & Descriptions:

Name: Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus 45 10
Kartagener Syndrome 30 9 41 43 60
Kartagener's Syndrome 9 20 22
Primary Ciliary Dyskinesia, Kartagener Type 41
Dextrocardia - Bronchiectasis - Sinusitis 41
Dextrocardia Bronchiectasis and Sinusitis 41
 
Immotile Cilia Syndrome, Kartagener Type 41
Ciliary Dyskinesia, Primary, 1 45
Ciliary Motility Disorders 60
Primary Ciliary Dyskinesia 41
Siewert Syndrome 41
Pcd 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


External Ids:

OMIM45 244400
Disease Ontology9 DOID:0050144
MeSH33 D007619
NCIt38 C84797

Summaries for Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus

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OMIM:45 Primary ciliary dyskinesia is a genetically heterogeneous autosomal recessive disorder resulting from loss of function... (244400) more...

MalaCards based summary: Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus, also known as kartagener syndrome, is related to primary ciliary dyskinesia and situs inversus, and has symptoms including autosomal recessive inheritance, sinusitis and chronic otitis media. An important gene associated with Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus is DNAI1 (dynein, axonemal, intermediate chain 1), and among its related pathways is Cytoplasmic microtubules. Affiliated tissues include lung, and related mouse phenotypes are cardiovascular system and respiratory system.

Disease Ontology:9 A primary ciliary dyskinesia that results from dysfunction of the cilia during embryologic development and is characterized by the triad of sinusitis, bronchiectasis and situs inversus with dextrocardia.

NIH Rare Diseases:41 Kartagener syndrome is a type of primary ciliary dyskinesia that is also characterized by situs inversus totalis (mirror-image reversal of internal organs). the signs and symptoms vary but may include neonatal respiratory distress; frequent lung, sinus and middle ear infections beginning in early childhood; and infertility. it can be cause by changes (mutations) in many different genes that are inherited in an autosomal recessive manner. although scientists have identified many of the genes associated with kartagener syndrome, the genetic cause of some cases is unknown. there is no cure for kartagener syndrome. treatment varies based on the signs and symptoms present in each person but may include airway clearance therapy and antibiotics. last updated: 2/2/2015

Related Diseases for Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus

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Diseases related to Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 92)
idRelated DiseaseScoreTop Affiliating Genes
1primary ciliary dyskinesia30.3DNAI1, DNAH5
2situs inversus30.2DNAI1, DNAH5
3hydrocephalus10.6
4primary ciliary dyskinesia 1: dnai1-related primary ciliary dyskinesia10.6
5primary ciliary dyskinesia 3: dnah5-related primary ciliary dyskinesia10.6
6primary ciliary dyskinesia 6: nme8-related primary ciliary dyskinesia10.6
7primary ciliary dyskinesia 7: dnah11-related primary ciliary dyskinesia10.6
8primary ciliary dyskinesia 9: dnai2-related primary ciliary dyskinesia10.6
9primary ciliary dyskinesia 2: dnaaf3-related primary ciliary dyskinesia10.6
10primary ciliary dyskinesia 5: hydin-related primary ciliary dyskinesia10.6
11retinitis pigmentosa10.4
12congenital heart disease10.4
13otitis media10.4
14retinitis10.4
15primary ciliary dyskinesia10: dnaaf2-related primary ciliary dyskinesia10.4
16primary ciliary dyskinesia11: rsph4a-related primary ciliary dyskinesia10.4
17primary ciliary dyskinesia12: rsph9-related primary ciliary dyskinesia10.4
18primary ciliary dyskinesia13: dnaaf1-related primary ciliary dyskinesia10.4
19primary ciliary dyskinesia14: ccdc39-related primary ciliary dyskinesia10.4
20primary ciliary dyskinesia15: ccdc40-related primary ciliary dyskinesia10.4
21primary ciliary dyskinesia16: dnal1-related primary ciliary dyskinesia10.4
22primary ciliary dyskinesia17: ccdc103-related primary ciliary dyskinesia10.4
23primary ciliary dyskinesia18: heatr2-related primary ciliary dyskinesia10.4
24primary ciliary dyskinesia19: lrrc6-related primary ciliary dyskinesia10.4
25primary ciliary dyskinesia - retinitis pigmentosa10.4
26ciliary dyskinesia, primary, 3, with or without situs inversus10.4
27ciliary dyskinesia, primary, 7, with or without situs inversus10.4
28ciliary dyskinesia, primary, 9, with or without situs inversus10.4
29pneumonia10.4
30paraneoplastic cerebellar degeneration10.2
31ciliary dyskinesia, primary, 2110.2
32asthma10.2
33myelodysplastic syndrome10.2
34ciliary dyskinesia, primary, 1410.2
35pulmonary function10.2
36ciliary dyskinesia, primary, 2810.2
37ciliary dyskinesia, primary, 1910.2
38ciliary dyskinesia, primary, 2310.2
39ciliary dyskinesia, primary, 2710.2
40ciliary dyskinesia, primary, 1610.2
41ciliary dyskinesia, primary, 2510.2
42ciliary dyskinesia, primary, 1710.2
43glanzmann thrombasthenia10.2
44ciliary dyskinesia, primary, 1510.2
45ciliary dyskinesia, primary, 2010.2
46ciliary dyskinesia, primary, 2610.2
47ciliary dyskinesia, primary, 2410.2
48digeorge syndrome10.2
49heterotaxy, visceral, 1, x-linked10.2
50ciliary diskinesia, primary, 2910.2

Graphical network of the top 20 diseases related to Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus:



Diseases related to ciliary dyskinesia, primary, 1, with or without situs inversus

Symptoms for Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus

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Symptoms by clinical synopsis from OMIM:

244400

Clinical features from OMIM:

244400

HPO human phenotypes related to Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus:

(show all 20)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 sinusitis HP:0000246
3 chronic otitis media HP:0000389
4 conductive hearing impairment HP:0000405
5 anosmia HP:0000458
6 abnormality of the cornea HP:0000481
7 communicating hydrocephalus HP:0001334
8 heterogeneous HP:0001425
9 situs inversus totalis HP:0001696
10 asplenia HP:0001746
11 pneumonia HP:0002090
12 bronchiectasis HP:0002110
13 chronic rhinitis HP:0002257
14 headache HP:0002315
15 absent frontal sinuses HP:0002688
16 male infertility HP:0003251
17 abnormal respiratory motile cilium morphology HP:0005938
18 chronic sinusitis HP:0011109
19 immotile cilia HP:0012263
20 nasal polyposis HP:0100582

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus

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Drug clinical trials:

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Genetic Tests for Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus

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Genetic tests related to Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus:

id Genetic test Affiliating Genes
1 Kartagener Syndrome20 22

Anatomical Context for Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus

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MalaCards organs/tissues related to Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus:

31
Lung

Animal Models for Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus or affiliated genes

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MGI Mouse Phenotypes related to Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053859.1DNAI1, DNAH5
2MP:00053888.8DNAI1, DNAH5

Publications for Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus

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Variations for Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus

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UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus:

62
id Symbol AA change Variation ID SNP ID
1DNAH5p.Gly3519ArgVAR_019608
2DNAI1p.Gly515SerVAR_016775

Clinvar genetic disease variations for Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus:

6
id Gene Variation Type Significance SNP ID Assembly Location
1DNAI1NM_001184940.1(FAM219A): c.-792dupduplicationPathogenicrs397515363GRCh37Chr 9, 34459053: 34459053
2DNAI1DNAI1, 4-BP INS, CODON 95insertionPathogenic
3DNAI1NM_012144.3(DNAI1): c.1543G> A (p.Gly515Ser)single nucleotide variantPathogenicrs79833450GRCh37Chr 9, 34513163: 34513163
4DNAI1DNAI1, 12-BP DELdeletionPathogenic
5DNAI1NM_012144.3(DNAI1): c.1490G> A (p.Gly497Asp)single nucleotide variantPathogenicrs376252276GRCh37Chr 9, 34513110: 34513110
6DNAI1NM_012144.3(DNAI1): c.2001+1G> Asingle nucleotide variantPathogenicrs397515563GRCh37Chr 9, 34517466: 34517466

Expression for genes affiliated with Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus

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Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus.

Pathways for genes affiliated with Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus

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Pathways related to Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes

Compounds for genes affiliated with Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus

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GO Terms for genes affiliated with Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus

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Cellular components related to Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1microtubuleGO:00058749.1DNAI1, DNAH5

Biological processes related to Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1metabolic processGO:00081529.1DNAI1, DNAH5

Products for genes affiliated with Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus

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Sources for Ciliary Dyskinesia, Primary, 1, with or Without Situs Inversus

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
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35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
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