MCID: CLR101
MIFTS: 20

Ciliary Dyskinesia, Primary, 25

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Ciliary Dyskinesia, Primary, 25

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 25:

Name: Ciliary Dyskinesia, Primary, 25 57 75 73
Primary Ciliary Dyskinesia 25 12 29 6
Cild25 57 12 75
Primary Ciliary Dyskinesia 25 with or Without Situs Inversus 12 75
Ciliary Dyskinesia, Primary, 25, with or Without Situs Inversus 57
Dyskinesia, Ciliary, Primary, Type 25 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

32
ciliary dyskinesia, primary, 25:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Ciliary Dyskinesia, Primary, 25

OMIM : 57 Primary ciliary dyskinesia-25 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have recurrent upper and lower airway disease, bronchiectasis, and decreased fertility. About half of patients show laterality defects, including situs inversus totalis. Respiratory cilia from patients show defects in the inner and outer dynein arms (summary by Tarkar et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400. (615482)

MalaCards based summary : Ciliary Dyskinesia, Primary, 25, is also known as primary ciliary dyskinesia 25. An important gene associated with Ciliary Dyskinesia, Primary, 25 is DNAAF4 (Dynein Axonemal Assembly Factor 4). Related phenotypes are infertility and situs inversus totalis

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, decreased fertility and variable occurence of laterality defects and has material basis in homozygous or compound heterozygous mutation in the DYX1C1 gene on chromosome 15q21.

UniProtKB/Swiss-Prot : 75 Ciliary dyskinesia, primary, 25: 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. Patients may 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.

Related Diseases for Ciliary Dyskinesia, Primary, 25

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 25

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
sinusitis, recurrent

Cardiovascular Heart:
dextrocardia (in some patients)

Respiratory Lung:
bronchiectasis

Genitourinary:
infertility

Head And Neck Ears:
otitis, recurrent

Respiratory:
recurrent respiratory infections due to defective cilia function
chronic obstructive pulmonary disease

Abdomen:
situs inversus (in about 50% of patients)

Laboratory Abnormalities:
cilia show inner and outer dynein arm defects
immotile cilia


Clinical features from OMIM:

615482

Human phenotypes related to Ciliary Dyskinesia, Primary, 25:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 infertility 32 HP:0000789
2 situs inversus totalis 32 HP:0001696
3 bronchiectasis 32 HP:0002110
4 chronic obstructive pulmonary disease 32 HP:0006510
5 recurrent sinusitis 32 HP:0011108
6 immotile cilia 32 HP:0012263
7 ciliary dyskinesia 32 HP:0012265

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 25

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 25

Genetic Tests for Ciliary Dyskinesia, Primary, 25

Genetic tests related to Ciliary Dyskinesia, Primary, 25:

# Genetic test Affiliating Genes
1 Primary Ciliary Dyskinesia 25 29 DNAAF4

Anatomical Context for Ciliary Dyskinesia, Primary, 25

Publications for Ciliary Dyskinesia, Primary, 25

Variations for Ciliary Dyskinesia, Primary, 25

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 25:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DNAAF4 NM_001033560.1(DNAAF4): c.325G> T (p.Glu109Ter) single nucleotide variant Pathogenic rs397515622 GRCh37 Chromosome 15, 55783401: 55783401
2 DNAAF4 DNAAF4, 3.5-KB DEL deletion Pathogenic
3 DNAAF4 NM_130810.3(DNAAF4): c.808C> T (p.Arg270Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397515621 GRCh37 Chromosome 15, 55731755: 55731755
4 DNAAF4 NM_130810.3(DNAAF4): c.808C> T (p.Arg270Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397515621 GRCh38 Chromosome 15, 55439557: 55439557
5 DNAAF4 NM_001033560.1(DNAAF4): c.325G> T (p.Glu109Ter) single nucleotide variant Pathogenic rs397515622 GRCh38 Chromosome 15, 55491203: 55491203
6 DNAAF4 DNAAF4, 1-BP DEL, 583A deletion Pathogenic
7 DNAAF4 NM_001033560.1(DNAAF4): c.523delAinsAA (p.Ile175Asnfs) indel Pathogenic GRCh38 Chromosome 15, 55467044: 55467044
8 DNAAF4 NM_001033560.1(DNAAF4): c.523delAinsAA (p.Ile175Asnfs) indel Pathogenic GRCh37 Chromosome 15, 55759242: 55759242

Expression for Ciliary Dyskinesia, Primary, 25

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 25.

Pathways for Ciliary Dyskinesia, Primary, 25

GO Terms for Ciliary Dyskinesia, Primary, 25

Sources for Ciliary Dyskinesia, Primary, 25

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