MCID: CLR059
MIFTS: 21

Ciliary Dyskinesia, Primary, 13 malady

Categories: Genetic diseases, Neuronal diseases, Nephrological diseases, Fetal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Ciliary Dyskinesia, Primary, 13

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Aliases & Descriptions for Ciliary Dyskinesia, Primary, 13:

Name: Ciliary Dyskinesia, Primary, 13 50 68 25 12
Primary Ciliary Dyskinesia 13 with or Without Situs Inversus 68
Immotile Cilia Syndrome 13 68
 
Cild13 68
Ics13 68

Characteristics:

HPO:

62
ciliary dyskinesia, primary, 13:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 613193
MedGen35 C2750790
MeSH37 D007619

Summaries for Ciliary Dyskinesia, Primary, 13

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UniProtKB/Swiss-Prot:68 Ciliary dyskinesia, primary, 13: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. At ultrastructural level, CILD13 is characterized by a marked reduction or absence of both dynein arms from the patients cilia.

MalaCards based summary: Ciliary Dyskinesia, Primary, 13, also known as primary ciliary dyskinesia 13 with or without situs inversus, is related to ciliary dyskinesia, primary, 1, with or without situs inversus, and has symptoms including sinusitis, recurrent otitis media and infertility. An important gene associated with Ciliary Dyskinesia, Primary, 13 is DNAAF1 (Dynein Axonemal Assembly Factor 1).

Description from OMIM:50 613193

Related Diseases for Ciliary Dyskinesia, Primary, 13

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Symptoms for Ciliary Dyskinesia, Primary, 13

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Symptoms by clinical synopsis from OMIM:

613193

Clinical features from OMIM:

613193

HPO human phenotypes related to Ciliary Dyskinesia, Primary, 13:

(show all 9)
id Description Frequency HPO Source Accession
1 sinusitis HP:0000246
2 recurrent otitis media HP:0000403
3 infertility HP:0000789
4 situs inversus totalis HP:0001696
5 bronchiectasis HP:0002110
6 recurrent bronchitis HP:0002837
7 absent outer dynein arms HP:0012256
8 absent inner dynein arms HP:0012257
9 ciliary dyskinesia HP:0012265

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 13

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Ciliary Dyskinesia, Primary, 13

Genetic Tests for Ciliary Dyskinesia, Primary, 13

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Genetic tests related to Ciliary Dyskinesia, Primary, 13:

id Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 1325

Anatomical Context for Ciliary Dyskinesia, Primary, 13

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Animal Models for Ciliary Dyskinesia, Primary, 13 or affiliated genes

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Publications for Ciliary Dyskinesia, Primary, 13

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Variations for Ciliary Dyskinesia, Primary, 13

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UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 13:

68
id Symbol AA change Variation ID SNP ID
1DNAAF1p.Leu175ArgVAR_063098rs267607227

Clinvar genetic disease variations for Ciliary Dyskinesia, Primary, 13:

5
id Gene Variation Type Significance SNP ID Assembly Location
1DNAAF1NM_178452.5(DNAAF1): c.1349dupC (p.Pro451Alafs)duplicationPathogenicrs397515339GRCh37Chr 16, 84203783: 84203783
2DNAAF1NM_178452.5(DNAAF1): c.811C> T (p.Arg271Ter)single nucleotide variantPathogenicrs267607225GRCh37Chr 16, 84193349: 84193349
3DNAAF1NM_178452.5(DNAAF1): c.792C> A (p.Tyr264Ter)single nucleotide variantPathogenicrs267607226GRCh37Chr 16, 84193330: 84193330
4DNAAF1NM_178452.5(DNAAF1): c.508dupG (p.Glu170Glyfs)duplicationPathogenicrs786205052GRCh37Chr 16, 84188337: 84188337
5DNAAF1NM_178452.5(DNAAF1): c.524T> G (p.Leu175Arg)single nucleotide variantPathogenicrs267607227GRCh37Chr 16, 84188353: 84188353
6DNAAF1NM_001146051.1(HSDL1): c.-7464_-2089deldeletionPathogenicGRCh37Chr 16, 84180705: 84186080

Expression for genes affiliated with Ciliary Dyskinesia, Primary, 13

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Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 13.

Pathways for genes affiliated with Ciliary Dyskinesia, Primary, 13

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GO Terms for genes affiliated with Ciliary Dyskinesia, Primary, 13

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Sources for Ciliary Dyskinesia, Primary, 13

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet