CILIARY DYSKINESIA, PRIMARY, 27

General Information (adopted from Orphanet):

Synonyms, Signs: CILIARY DYSKINESIA, PRIMARY, 27, WITHOUT SITUS INVERSUS
CILD27
Number of Symptoms 15
OrphanetNr:
OMIM Id: 615504
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:0004469) Chronic bronchitis 17 / 7739
3
(HPO:0011108) Recurrent sinusitis 30 / 7739
4
(HPO:0012384) Rhinitis 18 / 7739
5
(HPO:0000403) Recurrent otitis media 61 / 7739
6
(HPO:0002110) Bronchiectasis 73 / 7739
7
(HPO:0002205) Recurrent respiratory infections 254 / 7739
8
(HPO:0200073) Respiratory insufficiency due to defective ciliary clearance 10 / 7739
9
(HPO:0012265) Ciliary dyskinesia 32 / 7739
10
(OMIM) Electron microscopy of patient respiratory cells shows reduced inner dynein arms and nexin links 1 / 7739
11
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
(OMIM) Microtubule disorganization in some cilia 1 / 7739
13
(OMIM) Dyskinetic ciliary motility 1 / 7739
14
(OMIM) Decreased nasal nitric oxide 8 / 7739
15
(OMIM) Rhinitis, recurrent 7 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Primary ciliary dyskinesia-27 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis. Respiratory cilia from patients show defects in the inner dynein arms ...
Clinical Description OMIM Austin-Tse et al. (2013) reported 2 brothers and an unrelated girl, all of Ashkenazi Jewish descent, with primary ciliary dyskinesia. The patients had recurrent bronchitis, sinusitis, and/or otitis media, but no situs inversus. Fertility status could not be ...
Molecular genetics OMIM In 3 Ashkenazi Jewish patients, including 2 brothers, with primary ciliary dyskinesia-27, Austin-Tse et al. (2013) identified a homozygous truncating mutation in the CCDC65 gene (611088.0001). The patients were ascertained from a larger cohort of 295 individuals with ...