CILD13
MCID: CLR059
MIFTS: 22

Ciliary Dyskinesia, Primary, 13 (CILD13) malady

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 13

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Aliases & Descriptions for Ciliary Dyskinesia, Primary, 13:

Name: Ciliary Dyskinesia, Primary, 13 52 70 12 68
Primary Ciliary Dyskinesia 13 with or Without Situs Inversus 11 70
Primary Ciliary Dyskinesia 13 11 27
 
Cild13 11 70
Immotile Cilia Syndrome 13 70
Ics13 70

Characteristics:

HPO:

64
ciliary dyskinesia, primary, 13:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 613193
Disease Ontology11 DOID:0110618
ICD1030 Q34.8
MedGen37 C2750790
MeSH39 D007619

Summaries for Ciliary Dyskinesia, Primary, 13

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UniProtKB/Swiss-Prot:70 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:52 613193

Related Diseases for Ciliary Dyskinesia, Primary, 13

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Symptoms & Phenotypes 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:

 64 (show all 9)
id Description HPO Frequency HPO Source Accession
1 sinusitis64 HP:0000246
2 recurrent otitis media64 HP:0000403
3 infertility64 HP:0000789
4 situs inversus totalis64 HP:0001696
5 bronchiectasis64 HP:0002110
6 recurrent bronchitis64 HP:0002837
7 absent outer dynein arms64 HP:0012256
8 absent inner dynein arms64 HP:0012257
9 ciliary dyskinesia64 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, 1327

Anatomical Context for Ciliary Dyskinesia, Primary, 13

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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:

70
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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet