CILD18
MCID: CLR092
MIFTS: 21

Ciliary Dyskinesia, Primary, 18 (CILD18)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 18

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 18:

Name: Ciliary Dyskinesia, Primary, 18 58 76 30 13 6 74
Cild18 58 12 76
Primary Ciliary Dyskinesia 18 with or Without Situs Inversus 12 76
Ciliary Dyskinesia, Primary, 18, with or Without Situs Inversus 58
Dyskinesia, Ciliary, Primary, 18 41
Primary Ciliary Dyskinesia 18 12
Immotile Cilia Syndrome 18 76
Ics18 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
ciliary dyskinesia, primary, 18:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110604
OMIM 58 614874
MeSH 45 D007619
ICD10 34 Q34.8
UMLS 74 C3543825

Summaries for Ciliary Dyskinesia, Primary, 18

UniProtKB/Swiss-Prot : 76 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 situs inversus totalis and recurrent otitis media

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 : 58 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

Human phenotypes related to Ciliary Dyskinesia, Primary, 18:

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

Symptoms via clinical synopsis from OMIM:

58
Respiratory Airways:
chronic bronchitis

Head And Neck Head:
sinusitis, recurrent

Head And Neck Nose:
rhinitis, recurrent

Genitourinary Internal Genitalia Male:
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

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 30 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:

76
# 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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