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

Aliases & Descriptions for Ciliary Dyskinesia, Primary, 13:

Name: Ciliary Dyskinesia, Primary, 13 54 66 13 69
Primary Ciliary Dyskinesia 13 with or Without Situs Inversus 12 66
Primary Ciliary Dyskinesia 13 12 29
Cild13 12 66
Immotile Cilia Syndrome 13 66
Ics13 66

Characteristics:

HPO:

32
ciliary dyskinesia, primary, 13:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 613193
Disease Ontology 12 DOID:0110618
ICD10 33 Q34.8
MedGen 40 C2750790
MeSH 42 D007619

Summaries for Ciliary Dyskinesia, Primary, 13

UniProtKB/Swiss-Prot : 66 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 : 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 by clinical synopsis from OMIM:

613193

Clinical features from OMIM:

613193

Human phenotypes related to Ciliary Dyskinesia, Primary, 13:

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 sinusitis 32 HP:0000246
2 recurrent otitis media 32 HP:0000403
3 infertility 32 HP:0000789
4 situs inversus totalis 32 HP:0001696
5 bronchiectasis 32 HP:0002110
6 ciliary dyskinesia 32 HP:0012265
7 recurrent bronchitis 32 HP:0002837
8 absent outer dynein arms 32 HP:0012256
9 absent inner dynein arms 32 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:

id Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 13 29

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:

66
id Symbol AA change Variation ID SNP ID
1 DNAAF1 p.Leu175Arg VAR_063098 rs267607227

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

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

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

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