CILD18
MCID: CLR092
MIFTS: 24

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 57 74 29 13 6 72
Cild18 57 12 74
Primary Ciliary Dyskinesia 18 with or Without Situs Inversus 12 74
Ciliary Dyskinesia, Primary, 18, with or Without Situs Inversus 57
Dyskinesia, Ciliary, Primary, 18 40
Primary Ciliary Dyskinesia 18 12
Immotile Cilia Syndrome 18 74
Ics18 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0110604
MeSH 44 D007619
ICD10 33 Q34.8
UMLS 72 C3543825

Summaries for Ciliary Dyskinesia, Primary, 18

UniProtKB/Swiss-Prot : 74 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 : 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

Human phenotypes related to Ciliary Dyskinesia, Primary, 18:

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

Symptoms via clinical synopsis from OMIM:

57
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 insufficiency due to defective ciliary clearance
respiratory infections, recurrent

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 29 DNAAF5

Anatomical Context for Ciliary Dyskinesia, Primary, 18

Publications for Ciliary Dyskinesia, Primary, 18

Articles related to Ciliary Dyskinesia, Primary, 18:

# Title Authors PMID Year
1
Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. 8 71
23040496 2012
2
New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia. 71
22801010 2012
3
Primary ciliary dyskinesia in Amish communities. 8
20350728 2010
4
Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia. 71
20537283 2010
5
Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype. 71
18776131 2009
6
Primary Ciliary Dyskinesia 71
20301301 2007

Variations for Ciliary Dyskinesia, Primary, 18

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DNAAF5 NM_017802.4(DNAAF5): c.2384T> C (p.Leu795Pro) single nucleotide variant Pathogenic rs397514561 7:819734-819734 7:780097-780097
2 DNAAF5 NM_017802.4(DNAAF5): c.550C> A (p.Arg184Ser) single nucleotide variant Uncertain significance rs878855039 7:766907-766907 7:727270-727270
3 DNAAF5 NM_017802.4(DNAAF5): c.1499G> T (p.Cys500Phe) single nucleotide variant Uncertain significance rs144405450 7:801418-801418 7:761781-761781
4 DNAAF5 NM_017802.4(DNAAF5): c.1487G> A (p.Arg496His) single nucleotide variant Uncertain significance rs149610399 7:801406-801406 7:761769-761769
5 DNAAF5 NM_017802.4(DNAAF5): c.781G> A (p.Val261Ile) single nucleotide variant Uncertain significance rs138915052 7:780456-780456 7:740819-740819

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

74
# Symbol AA change Variation ID SNP ID
1 DNAAF5 p.Leu795Pro VAR_068969 rs397514561

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

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