CILD25
MCID: CLR101
MIFTS: 23

Ciliary Dyskinesia, Primary, 25 (CILD25)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases, Respiratory diseases

Aliases & Classifications for Ciliary Dyskinesia, Primary, 25

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 25:

Name: Ciliary Dyskinesia, Primary, 25 56 73 71
Primary Ciliary Dyskinesia 25 12 29 6
Cild25 56 12 73
Primary Ciliary Dyskinesia 25 with or Without Situs Inversus 12 73
Ciliary Dyskinesia, Primary, 25, with or Without Situs Inversus 56
Dyskinesia, Ciliary, Primary, Type 25 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

31
ciliary dyskinesia, primary, 25:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110615
OMIM 56 615482
OMIM Phenotypic Series 56 PS244400
MeSH 43 D007619
ICD10 32 Q34.8
UMLS 71 C3809641

Summaries for Ciliary Dyskinesia, Primary, 25

OMIM : 56 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 general 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 chronic obstructive pulmonary disease and infertility

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 : 73 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

Human phenotypes related to Ciliary Dyskinesia, Primary, 25:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 chronic obstructive pulmonary disease 31 HP:0006510
2 infertility 31 HP:0000789
3 situs inversus totalis 31 HP:0001696
4 bronchiectasis 31 HP:0002110
5 immotile cilia 31 HP:0012263
6 ciliary dyskinesia 31 HP:0012265
7 recurrent sinusitis 31 HP:0011108

Symptoms via clinical synopsis from OMIM:

56
Respiratory Lung:
chronic obstructive pulmonary disease
recurrent pneumonia
bronchiectasis

Genitourinary Internal Genitalia Female:
infertility

Abdomen Spleen:
polysplenia

Respiratory Nasopharynx:
sinusitis, recurrent

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

Genitourinary Internal Genitalia Male:
infertility
immotile sperm

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

Cardiovascular Heart:
left atrial isomerism
dextrocardia (in some patients)

Head And Neck Ears:
otitis media, recurrent

Respiratory:
recurrent respiratory infections due to defective cilia function

Clinical features from OMIM:

615482

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

Articles related to Ciliary Dyskinesia, Primary, 25:

# Title Authors PMID Year
1
DYX1C1 is required for axonemal dynein assembly and ciliary motility. 56 6
23872636 2013
2
New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia. 6
22801010 2012
3
Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia. 6
20537283 2010
4
Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype. 6
18776131 2009
5
Primary Ciliary Dyskinesia 6
20301301 2007

Variations for Ciliary Dyskinesia, Primary, 25

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DNAAF4 NM_130810.4(DNAAF4):c.325G>T (p.Glu109Ter)SNV Pathogenic 68449 rs397515622 15:55783401-55783401 15:55491203-55491203
2 DNAAF4 DNAAF4, 3.5-KB DELdeletion Pathogenic 68447
3 DNAAF4 DNAAF4, 1-BP DEL, 583Adeletion Pathogenic 68450
4 DNAAF4 NM_130810.4(DNAAF4):c.808C>T (p.Arg270Ter)SNV Pathogenic/Likely pathogenic 68448 rs397515621 15:55731755-55731755 15:55439557-55439557
5 DNAAF4 , DNAAF4-CCPG1 NM_130810.4(DNAAF4):c.384_390del (p.Lys127_Tyr128insTer)deletion Likely pathogenic 804473 15:55783336-55783342 15:55491138-55491144

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

3 CDC
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68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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