CILIARY DYSKINESIA, PRIMARY, 21

General Information (adopted from Orphanet):

Synonyms, Signs: CILD21
CILIARY DYSKINESIA, PRIMARY, 21, WITHOUT SITUS INVERSUS
Number of Symptoms 11
OrphanetNr:
OMIM Id: 615294
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000246) Sinusitis 73 / 7739
2
(HPO:0011109) Chronic sinusitis 17 / 7739
3
(HPO:0000403) Recurrent otitis media 61 / 7739
4
(HPO:0100750) Atelectasis 17 / 7739
5
(HPO:0012265) Ciliary dyskinesia 32 / 7739
6
(HPO:0002110) Bronchiectasis 73 / 7739
7
(OMIM) Respiratory epithelia show increased beat frequency, but decreased bending amplitude 1 / 7739
8
(OMIM) Decreased nasal nitric oxide 8 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
(OMIM) Recurrent respiratory infections due to defective ciliary clearance 2 / 7739
11
(OMIM) Electron microscopy of patient respiratory cells shows normal inner and outer dynein arms, but lack of nexin links 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Carlen et al. (2003) reported 2 Swedish brothers with primary ciliary dyskinesia. Both had repeated upper and lower respiratory tract infections and recurrent otitis media since birth. They also reported an unrelated Swedish woman with similar symptoms, including ...
Molecular genetics OMIM In 4 patients, including 2 sibs, with primary ciliary dyskinesia, Wirschell et al. (2013) identified homozygous truncating mutations in the DRC1 gene (615288.0001 and 615288.0002). The first mutation was found using homozygosity mapping combined with candidate gene sequencing. ...