MCID: CLR092
MIFTS: 20

Ciliary Dyskinesia, Primary, 18

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Ciliary Dyskinesia, Primary, 18

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 18:

Name: Ciliary Dyskinesia, Primary, 18 57 75 29 13 6 73
Cild18 57 12 75
Primary Ciliary Dyskinesia 18 with or Without Situs Inversus 12 75
Ciliary Dyskinesia, Primary, 18, with or Without Situs Inversus 57
Dyskinesia, Ciliary, Primary, 18 40
Primary Ciliary Dyskinesia 18 12
Immotile Cilia Syndrome 18 75
Ics18 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or neonatal period
prevalent among the amish


HPO:

32
ciliary dyskinesia, primary, 18:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614874
Disease Ontology 12 DOID:0110604
ICD10 33 Q34.8
MeSH 44 D007619
UMLS 73 C3543825

Summaries for Ciliary Dyskinesia, Primary, 18

UniProtKB/Swiss-Prot : 75 Ciliary dyskinesia, primary, 18: 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.

MalaCards based summary : Ciliary Dyskinesia, Primary, 18, is also known as cild18. An important gene associated with Ciliary Dyskinesia, Primary, 18 is DNAAF5 (Dynein Axonemal Assembly Factor 5). Related phenotypes are recurrent otitis media and situs inversus totalis

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, early infantile onset of recurrent sinopulmonary infections, male infertility, and variable occurence of situs inversus and has material basis in homozygous mutation in the HEATR2 gene on chromosome 7p22.

OMIM : 57 Primary ciliary dyskinesia-18 is an autosomal recessive disorder characterized by early infantile onset of recurrent sinopulmonary infections due to ciliary dysfunction and impaired airway clearance. Males are infertile and about half of patients have situs inversus. Electron microscopy of cilia shows a defect of the outer and inner dynein arms and impaired ciliary function (summary by Horani et al., 2012). (614874)

Related Diseases for Ciliary Dyskinesia, Primary, 18

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 18

Symptoms via clinical synopsis from OMIM:

57
Respiratory Airways:
chronic bronchitis

Head And Neck Head:
sinusitis, recurrent

Head And Neck Nose:
rhinitis, recurrent

GenitourinaryInternal GenitaliaMale:
infertility due to immotile sperm

Respiratory:
respiratory infections, recurrent
respiratory insufficiency due to defective ciliary clearance

Head And Neck Ears:
otitis media, recurrent

Abdomen:
situs inversus (in about half of patients)

Laboratory Abnormalities:
electron microscopy of patient respiratory cells shows absent outer dynein arms
variable defects of inner dynein arms
severely impaired ciliary motility


Clinical features from OMIM:

614874

Human phenotypes related to Ciliary Dyskinesia, Primary, 18:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 recurrent otitis media 32 HP:0000403
2 situs inversus totalis 32 frequent (33%) HP:0001696
3 male infertility 32 HP:0003251
4 chronic bronchitis 32 HP:0004469
5 recurrent sinusitis 32 HP:0011108
6 nonmotile sperm 32 HP:0012208
7 absent outer dynein arms 32 HP:0012256
8 abnormal ciliary motility 32 HP:0012262
9 ciliary dyskinesia 32 HP:0012265
10 rhinitis 32 HP:0012384
11 respiratory insufficiency due to defective ciliary clearance 32 HP:0200073

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 18

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 18

Genetic Tests for Ciliary Dyskinesia, Primary, 18

Genetic tests related to Ciliary Dyskinesia, Primary, 18:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 18 29 DNAAF5

Anatomical Context for Ciliary Dyskinesia, Primary, 18

Publications for Ciliary Dyskinesia, Primary, 18

Variations for Ciliary Dyskinesia, Primary, 18

UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 18:

75
# Symbol AA change Variation ID SNP ID
1 DNAAF5 p.Leu795Pro VAR_068969 rs397514561

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 18:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DNAAF5 NM_017802.3(DNAAF5): c.2384T> C (p.Leu795Pro) single nucleotide variant Pathogenic rs397514561 GRCh37 Chromosome 7, 819734: 819734
2 DNAAF5 NM_017802.3(DNAAF5): c.2384T> C (p.Leu795Pro) single nucleotide variant Pathogenic rs397514561 GRCh38 Chromosome 7, 780097: 780097

Expression for Ciliary Dyskinesia, Primary, 18

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 18.

Pathways for Ciliary Dyskinesia, Primary, 18

GO Terms for Ciliary Dyskinesia, Primary, 18

Sources for Ciliary Dyskinesia, Primary, 18

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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31 HMDB
32 HPO
33 ICD10
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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