MCID: CLR059
MIFTS: 19

Ciliary Dyskinesia, Primary, 13

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Ciliary Dyskinesia, Primary, 13

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 13:

Name: Ciliary Dyskinesia, Primary, 13 53 71 28 13 69
Cild13 53 12 71
Primary Ciliary Dyskinesia 13 with or Without Situs Inversus 12 71
Ciliary Dyskinesia, Primary, 13, with or Without Situs Inversus 53
Primary Ciliary Dyskinesia 13 12
Immotile Cilia Syndrome 13 71
Ics13 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
absence of both inner and outer dynein arms of cilia


HPO:

31
ciliary dyskinesia, primary, 13:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 613193
Disease Ontology 12 DOID:0110618
ICD10 32 Q34.8
MedGen 39 C2750790
MeSH 41 D007619
UMLS 69 C2750790

Summaries for Ciliary Dyskinesia, Primary, 13

UniProtKB/Swiss-Prot : 71 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, is also known as cild13, 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 : 12 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: 613193

Related Diseases for Ciliary Dyskinesia, Primary, 13

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 13

Symptoms via clinical synopsis from OMIM:

53
Cardiovascular Heart:
dextrocardia

Respiratory Nasopharynx:
sinusitis

Abdomen:
situs inversus

Genitourinary Internal Genitalia Female:
infertility

Respiratory:
respiratory infections, recurrent, due to defective cilia

Respiratory Lung:
bronchitis
bronchiectasis

Genitourinary Internal Genitalia Male:
infertility


Clinical features from OMIM:

613193

Human phenotypes related to Ciliary Dyskinesia, Primary, 13:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 sinusitis 31 HP:0000246
2 recurrent otitis media 31 HP:0000403
3 infertility 31 HP:0000789
4 situs inversus totalis 31 HP:0001696
5 bronchiectasis 31 HP:0002110
6 ciliary dyskinesia 31 HP:0012265
7 recurrent bronchitis 31 HP:0002837
8 absent outer dynein arms 31 HP:0012256
9 absent inner dynein arms 31 HP:0012257

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 13

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

Genetic Tests for Ciliary Dyskinesia, Primary, 13

Genetic tests related to Ciliary Dyskinesia, Primary, 13:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 13 28 DNAAF1

Anatomical Context for Ciliary Dyskinesia, Primary, 13

Publications for Ciliary Dyskinesia, Primary, 13

Variations for Ciliary Dyskinesia, Primary, 13

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

71
# Symbol AA change Variation ID SNP ID
1 DNAAF1 p.Leu175Arg VAR_063098 rs267607227

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DNAAF1 NM_001146051.1(HSDL1): c.-7464_-2089del deletion Pathogenic GRCh37 Chromosome 16, 84180705: 84186080
2 DNAAF1 NM_178452.5(DNAAF1): c.1349dupC (p.Pro451Alafs) duplication Pathogenic rs397515339 GRCh37 Chromosome 16, 84203783: 84203783
3 DNAAF1 NM_178452.5(DNAAF1): c.811C> T (p.Arg271Ter) single nucleotide variant Pathogenic rs267607225 GRCh37 Chromosome 16, 84193349: 84193349
4 DNAAF1 NM_178452.5(DNAAF1): c.792C> A (p.Tyr264Ter) single nucleotide variant Pathogenic rs267607226 GRCh37 Chromosome 16, 84193330: 84193330
5 DNAAF1 NM_178452.5(DNAAF1): c.508dup (p.Glu170Glyfs) duplication Pathogenic rs786205052 GRCh37 Chromosome 16, 84188337: 84188337
6 DNAAF1 NM_178452.5(DNAAF1): c.524T> G (p.Leu175Arg) single nucleotide variant Pathogenic rs267607227 GRCh37 Chromosome 16, 84188353: 84188353

Expression for Ciliary Dyskinesia, Primary, 13

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

Pathways for Ciliary Dyskinesia, Primary, 13

GO Terms for Ciliary Dyskinesia, Primary, 13

Sources for Ciliary Dyskinesia, Primary, 13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
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35 IUPHAR
36 KEGG
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39 MedGen
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47 NDF-RT
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53 OMIM
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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