CILD21
MCID: CLR088
MIFTS: 20

Ciliary Dyskinesia, Primary, 21 (CILD21)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 21

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 21:

Name: Ciliary Dyskinesia, Primary, 21 58 76 30 6 74
Cild21 58 12 76
Primary Ciliary Dyskinesia 21 Without Situs Inversus 12 76
Ciliary Dyskinesia, Primary, 21, Without Situs Inversus 58
Dyskinesia, Ciliary, Primary, 21 41
Primary Ciliary Dyskinesia 21 12

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy
four patients have been reported (last curated june 2013)


HPO:

33
ciliary dyskinesia, primary, 21:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110596
OMIM 58 615294
MeSH 45 D007619
ICD10 34 Q34.8
UMLS 74 C3809087

Summaries for Ciliary Dyskinesia, Primary, 21

OMIM : 58 Primary ciliary dyskinesia-21 is an autosomal recessive ciliopathy characterized by infantile onset of chronic sinopulmonary infections resulting from abnormal ciliary function. Electron microscopy of respiratory epithelial cells shows normal outer and inner dynein arms, but absence of nexin links and defects in the nexin-dynein regulatory complex (N-DRC). Video microscopy of patient cilia shows an increased beat frequency with decreased bending amplitude (summary by Wirschell et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). (615294)

MalaCards based summary : Ciliary Dyskinesia, Primary, 21, is also known as cild21. An important gene associated with Ciliary Dyskinesia, Primary, 21 is DRC1 (Dynein Regulatory Complex Subunit 1). Related phenotypes are recurrent otitis media and atelectasis

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with a missing Nexin link, infantile onset of chronic sinopulmonary infections, and has material basis in homozygous mutation in the DRC1 gene on chromosome 2p23.

UniProtKB/Swiss-Prot : 76 Ciliary dyskinesia, primary, 21: 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, 21

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 21

Human phenotypes related to Ciliary Dyskinesia, Primary, 21:

33
# Description HPO Frequency HPO Source Accession
1 recurrent otitis media 33 HP:0000403
2 atelectasis 33 HP:0100750
3 bronchiectasis 33 HP:0002110
4 chronic sinusitis 33 HP:0011109
5 ciliary dyskinesia 33 HP:0012265

Symptoms via clinical synopsis from OMIM:

58
Respiratory Lung:
atelectasis
bronchiectasis

Laboratory Abnormalities:
decreased nasal nitric oxide

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

Head And Neck Ears:
otitis media, recurrent

Head And Neck Face:
sinusitis, chronic

Respiratory Airways:
electron microscopy of patient respiratory cells shows normal inner and outer dynein arms, but lack of nexin links
respiratory epithelia show increased beat frequency, but decreased bending amplitude

Clinical features from OMIM:

615294

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 21

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 21

Genetic Tests for Ciliary Dyskinesia, Primary, 21

Genetic tests related to Ciliary Dyskinesia, Primary, 21:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 21 30 DRC1

Anatomical Context for Ciliary Dyskinesia, Primary, 21

Publications for Ciliary Dyskinesia, Primary, 21

Variations for Ciliary Dyskinesia, Primary, 21

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 21:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DRC1 NM_145038.4(DRC1): c.2056A> T (p.Lys686Ter) single nucleotide variant Pathogenic rs587776997 GRCh37 Chromosome 2, 26677651: 26677651
2 DRC1 NM_145038.4(DRC1): c.2056A> T (p.Lys686Ter) single nucleotide variant Pathogenic rs587776997 GRCh38 Chromosome 2, 26454783: 26454783
3 DRC1 NM_145038.4(DRC1): c.352C> T (p.Gln118Ter) single nucleotide variant Pathogenic/Likely pathogenic rs142371860 GRCh37 Chromosome 2, 26644264: 26644264
4 DRC1 NM_145038.4(DRC1): c.352C> T (p.Gln118Ter) single nucleotide variant Pathogenic/Likely pathogenic rs142371860 GRCh38 Chromosome 2, 26421396: 26421396
5 DRC1 NM_145038.4(DRC1): c.2190_2193dup (p.Thr732Serfs) duplication Uncertain significance rs763631774 GRCh38 Chromosome 2, 26456484: 26456487
6 DRC1 NM_145038.4(DRC1): c.2190_2193dup (p.Thr732Serfs) duplication Uncertain significance rs763631774 GRCh37 Chromosome 2, 26679352: 26679355

Expression for Ciliary Dyskinesia, Primary, 21

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 21.

Pathways for Ciliary Dyskinesia, Primary, 21

GO Terms for Ciliary Dyskinesia, Primary, 21

Sources for Ciliary Dyskinesia, Primary, 21

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