CILIARY DYSKINESIA, PRIMARY, 26

General Information (adopted from Orphanet):

Synonyms, Signs: CILIARY DYSKINESIA, PRIMARY, 26, WITH OR WITHOUT SITUS INVERSUS
CILD26
Number of Symptoms 19
OrphanetNr:
OMIM Id: 615500
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:0012207) Reduced sperm motility 5 / 7739
2
(HPO:0000789) Infertility 74 / 7739
3
(HPO:0004469) Chronic bronchitis 17 / 7739
4
(HPO:0011108) Recurrent sinusitis 30 / 7739
5
(HPO:0012384) Rhinitis 18 / 7739
6
(HPO:0000246) Sinusitis 73 / 7739
7
(HPO:0000403) Recurrent otitis media 61 / 7739
8
(HPO:0001696) Situs inversus totalis typical [HPO:skoehler] 44 / 7739
9
(HPO:0200073) Respiratory insufficiency due to defective ciliary clearance 10 / 7739
10
(HPO:0002205) Recurrent respiratory infections 254 / 7739
11
(HPO:0012265) Ciliary dyskinesia 32 / 7739
12
(HPO:0002110) Bronchiectasis 73 / 7739
13
(OMIM) Variable defects of inner dynein arms 2 / 7739
14
(OMIM) Decreased nasal nitric oxide 8 / 7739
15
(OMIM) Rhinitis, recurrent 7 / 7739
16
(OMIM) Severely impaired ciliary motility 2 / 7739
17
(OMIM) Infertility due to immotile sperm 4 / 7739
18
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
19
(OMIM) Electron microscopy of patient respiratory cells shows absent outer dynein arms 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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. ...
Clinical Description OMIM Austin-Tse et al. (2013) reported 4 unrelated patients with primary ciliary dyskinesia. Two of the patients were of Ashkenazi Jewish descent. Clinical features included neonatal respiratory distress, recurrent respiratory infections, and bronchiectasis. Three patients had situs inversus. All ...
Molecular genetics OMIM In 4 unrelated patients with primary ciliary dyskinesia-26 with or without situs inversus, Austin-Tse et al. (2013) identified 3 different truncating mutations in the C21ORF59 gene (615494.0001-615494.0003). The mutations occurred in homozygous or compound heterozygous state. Two patients ...