MCID: CLR059
MIFTS: 22

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 51 69 12 67
Primary Ciliary Dyskinesia 13 with or Without Situs Inversus 11 69
Primary Ciliary Dyskinesia 13 11 26
 
Cild13 11 69
Immotile Cilia Syndrome 13 69
Ics13 69

Characteristics:

HPO:

63
ciliary dyskinesia, primary, 13:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 613193
Disease Ontology11 DOID:0110618
ICD1029 Q34.8
MedGen36 C2750790
MeSH38 D007619

Summaries for Ciliary Dyskinesia, Primary, 13

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UniProtKB/Swiss-Prot:69 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).

Disease Ontology:11 A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has material basis in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-q24.

Description from OMIM:51 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

Human phenotypes related to Ciliary Dyskinesia, Primary, 13:

 63 (show all 9)
id Description HPO Frequency HPO Source Accession
1 sinusitis63 HP:0000246
2 recurrent otitis media63 HP:0000403
3 infertility63 HP:0000789
4 situs inversus totalis63 HP:0001696
5 bronchiectasis63 HP:0002110
6 recurrent bronchitis63 HP:0002837
7 absent outer dynein arms63 HP:0012256
8 absent inner dynein arms63 HP:0012257
9 ciliary dyskinesia63 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, 1326

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:

69
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)SNVPathogenicrs267607225GRCh37Chr 16, 84193349: 84193349
3DNAAF1NM_178452.5(DNAAF1): c.792C> A (p.Tyr264Ter)SNVPathogenicrs267607226GRCh37Chr 16, 84193330: 84193330
4DNAAF1NM_178452.5(DNAAF1): c.508dupG (p.Glu170Glyfs)duplicationPathogenicrs786205052GRCh37Chr 16, 84188337: 84188337
5DNAAF1NM_178452.5(DNAAF1): c.524T> G (p.Leu175Arg)SNVPathogenicrs267607227GRCh37Chr 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet