CILD26
MCID: CLR106
MIFTS: 23

Ciliary Dyskinesia, Primary, 26 (CILD26)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 26

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 26:

Name: Ciliary Dyskinesia, Primary, 26 57 74 29 6 72
Cild26 57 12 74
Primary Ciliary Dyskinesia 26 with or Without Situs Inversus 12 74
Ciliary Dyskinesia, Primary, 26, with or Without Situs Inversus 57
Dyskinesia, Ciliary, Primary, 26 40
Primary Ciliary Dyskinesia 26 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or neonatal period


HPO:

32
ciliary dyskinesia, primary, 26:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110627
MeSH 44 D007619
ICD10 33 Q34.8
UMLS 72 C3809684

Summaries for Ciliary Dyskinesia, Primary, 26

OMIM : 57 Primary ciliary dyskinesia-26 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis. 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 Austin-Tse et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400. (615500)

MalaCards based summary : Ciliary Dyskinesia, Primary, 26, is also known as cild26. An important gene associated with Ciliary Dyskinesia, Primary, 26 is CFAP298 (Cilia And Flagella Associated Protein 298). 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 inner and outer dynein arm defect, neonatal respiratory distress, recurrent upper and lower airway disease, bronchiectasis, and variable occurence of laterality defects and has material basis in homozygous or compound heterozygous mutation in the C21ORF59 gene on chromosome 21q22.

UniProtKB/Swiss-Prot : 74 Ciliary dyskinesia, primary, 26: 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, 26

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 26

Human phenotypes related to Ciliary Dyskinesia, Primary, 26:

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 infertility 32 HP:0000789
4 bronchiectasis 32 HP:0002110
5 chronic bronchitis 32 HP:0004469
6 rhinitis 32 HP:0012384
7 reduced sperm motility 32 HP:0012207
8 ciliary dyskinesia 32 HP:0012265
9 recurrent sinusitis 32 HP:0011108
10 respiratory insufficiency due to defective ciliary clearance 32 HP:0200073
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

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

Abdomen:
situs inversus (in about half of patients)

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

Head And Neck Ears:
otitis media, recurrent

Head And Neck Nose:
rhinitis, recurrent

Genitourinary Internal Genitalia Male:
infertility due to immotile sperm

Clinical features from OMIM:

615500

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 26

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 26

Genetic Tests for Ciliary Dyskinesia, Primary, 26

Genetic tests related to Ciliary Dyskinesia, Primary, 26:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 26 29 CFAP298

Anatomical Context for Ciliary Dyskinesia, Primary, 26

Publications for Ciliary Dyskinesia, Primary, 26

Articles related to Ciliary Dyskinesia, Primary, 26:

# Title Authors PMID Year
1
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. 8 71
24094744 2013
2
New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia. 71
22801010 2012
3
Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia. 71
20537283 2010
4
Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype. 71
18776131 2009
5
Primary Ciliary Dyskinesia 71
20301301 2007

Variations for Ciliary Dyskinesia, Primary, 26

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 26:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CFAP298 NM_021254.4(CFAP298): c.292C> T (p.Arg98Ter) single nucleotide variant Pathogenic rs143740376 21:33982163-33982163 21:32609853-32609853
2 CFAP298 NM_021254.4(CFAP298): c.792_795del (p.Ala263_Tyr264insTer) deletion Pathogenic rs398122401 21:33974251-33974254 21:32601941-32601944
3 CFAP298 NM_021254.4(CFAP298): c.735C> G (p.Tyr245Ter) single nucleotide variant Pathogenic rs202094637 21:33974609-33974609 21:32602299-32602299

Expression for Ciliary Dyskinesia, Primary, 26

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 26.

Pathways for Ciliary Dyskinesia, Primary, 26

GO Terms for Ciliary Dyskinesia, Primary, 26

Sources for Ciliary Dyskinesia, Primary, 26

3 CDC
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28 GO
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30 HGMD
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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71 Tocris
72 UMLS
73 UMLS via Orphanet
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