CILD26
MCID: CLR106
MIFTS: 21

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 75 29 6 73
Cild26 57 12 75
Primary Ciliary Dyskinesia 26 with or Without Situs Inversus 12 75
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:



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 recurrent otitis media and infertility

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 : 75 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

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 infections, recurrent
respiratory insufficiency due to defective ciliary clearance

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

Human phenotypes related to Ciliary Dyskinesia, Primary, 26:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 recurrent otitis media 32 HP:0000403
2 infertility 32 HP:0000789
3 situs inversus totalis 32 frequent (33%) HP:0001696
4 bronchiectasis 32 HP:0002110
5 rhinitis 32 HP:0012384
6 ciliary dyskinesia 32 HP:0012265
7 recurrent sinusitis 32 HP:0011108
8 reduced sperm motility 32 HP:0012207
9 chronic bronchitis 32 HP:0004469
10 respiratory insufficiency due to defective ciliary clearance 32 HP:0200073
11 absent outer dynein arms 32 HP:0012256

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

Variations for Ciliary Dyskinesia, Primary, 26

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CFAP298 NM_021254.3(CFAP298): c.292C> T (p.Arg98Ter) single nucleotide variant Pathogenic rs143740376 GRCh37 Chromosome 21, 33982163: 33982163
2 CFAP298 NM_021254.3(CFAP298): c.292C> T (p.Arg98Ter) single nucleotide variant Pathogenic rs143740376 GRCh38 Chromosome 21, 32609853: 32609853
3 CFAP298 NM_021254.3(CFAP298): c.792_795delTTTA (p.Tyr264Terfs) deletion Pathogenic rs398122401 GRCh37 Chromosome 21, 33974251: 33974254
4 CFAP298 NM_021254.3(CFAP298): c.792_795delTTTA (p.Tyr264Terfs) deletion Pathogenic rs398122401 GRCh38 Chromosome 21, 32601941: 32601944
5 CFAP298 NM_021254.3(CFAP298): c.735C> G (p.Tyr245Ter) single nucleotide variant Pathogenic rs202094637 GRCh38 Chromosome 21, 32602299: 32602299
6 CFAP298 NM_021254.3(CFAP298): c.735C> G (p.Tyr245Ter) single nucleotide variant Pathogenic rs202094637 GRCh37 Chromosome 21, 33974609: 33974609

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

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