CILD21
MCID: CLR088
MIFTS: 22

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 57 72 29 6 70
Cild21 57 12 72
Primary Ciliary Dyskinesia 21 Without Situs Inversus 12 72
Ciliary Dyskinesia, Primary, 21, Without Situs Inversus 57
Dyskinesia, Ciliary, Primary, 21 39
Primary Ciliary Dyskinesia 21 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
ciliary dyskinesia, primary, 21:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110596
OMIM® 57 615294
OMIM Phenotypic Series 57 PS244400
MeSH 44 D007619
ICD10 32 Q34.8
UMLS 70 C3809087

Summaries for Ciliary Dyskinesia, Primary, 21

OMIM® : 57 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) (Updated 05-Apr-2021)

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 : 72 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:

31
# Description HPO Frequency HPO Source Accession
1 recurrent otitis media 31 HP:0000403
2 atelectasis 31 HP:0100750
3 bronchiectasis 31 HP:0002110
4 ciliary dyskinesia 31 HP:0012265
5 chronic sinusitis 31 HP:0011109

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Respiratory Lung:
atelectasis
bronchiectasis

Head And Neck Ears:
otitis media, recurrent

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

Laboratory Abnormalities:
decreased nasal nitric oxide

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 (Updated 05-Apr-2021)

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 29 DRC1

Anatomical Context for Ciliary Dyskinesia, Primary, 21

Publications for Ciliary Dyskinesia, Primary, 21

Articles related to Ciliary Dyskinesia, Primary, 21:

# Title Authors PMID Year
1
The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans. 57 6
23354437 2013
2
Absence of nexin links as a possible cause of primary ciliary dyskinesia. 57 6
12746204 2003

Variations for Ciliary Dyskinesia, Primary, 21

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

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DRC1 NM_145038.5(DRC1):c.2056A>T (p.Lys686Ter) SNV Pathogenic 55839 rs587776997 GRCh37: 2:26677651-26677651
GRCh38: 2:26454783-26454783
2 DRC1 NM_145038.5(DRC1):c.352C>T (p.Gln118Ter) SNV Pathogenic 55840 rs142371860 GRCh37: 2:26644264-26644264
GRCh38: 2:26421396-26421396
3 DRC1 NM_145038.5(DRC1):c.2134C>T (p.Gln712Ter) SNV Pathogenic 1030234 GRCh37: 2:26678069-26678069
GRCh38: 2:26455201-26455201
4 DRC1 NM_145038.5(DRC1):c.1009C>T (p.Gln337Ter) SNV Pathogenic 1034287 GRCh37: 2:26663366-26663366
GRCh38: 2:26440498-26440498
5 DRC1 NM_145038.5(DRC1):c.1396G>T (p.Glu466Ter) SNV Pathogenic 1034288 GRCh37: 2:26667816-26667816
GRCh38: 2:26444948-26444948
6 DRC1 NM_145038.5(DRC1):c.1509+1G>T SNV Pathogenic 1034289 GRCh37: 2:26671672-26671672
GRCh38: 2:26448804-26448804
7 DRC1 NM_145038.5(DRC1):c.156-2A>C SNV Pathogenic 1034290 GRCh37: 2:26637210-26637210
GRCh38: 2:26414342-26414342
8 DRC1 NM_145038.5(DRC1):c.1976del (p.Ser659fs) Deletion Pathogenic 1034291 GRCh37: 2:26677571-26677571
GRCh38: 2:26454703-26454703
9 DRC1 NM_145038.5(DRC1):c.2223A>C (p.Ter741Cys) SNV Pathogenic 454988 rs151184011 GRCh37: 2:26679385-26679385
GRCh38: 2:26456517-26456517
10 DRC1 NM_145038.5(DRC1):c.2190_2193dup (p.Thr732fs) Duplication Conflicting interpretations of pathogenicity 525352 rs763631774 GRCh37: 2:26679349-26679350
GRCh38: 2:26456481-26456482
11 DRC1 NM_145038.5(DRC1):c.1913A>C (p.Lys638Thr) SNV Uncertain significance 454984 rs142671417 GRCh37: 2:26676411-26676411
GRCh38: 2:26453543-26453543

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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49 NCI
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54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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