CILIARY DYSKINESIA, PRIMARY, 28

General Information (adopted from Orphanet):

Synonyms, Signs: CILD28
CILIARY DYSKINESIA, PRIMARY, 28, WITH OR WITHOUT SITUS INVERSUS
Number of Symptoms 15
OrphanetNr:
OMIM Id: 615505
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:0004469) Chronic bronchitis 17 / 7739
2
(HPO:0012384) Rhinitis 18 / 7739
3
(HPO:0011108) Recurrent sinusitis 30 / 7739
4
(HPO:0000246) Sinusitis 73 / 7739
5
(HPO:0000403) Recurrent otitis media 61 / 7739
6
(HPO:0001696) Situs inversus totalis 44 / 7739
7
(HPO:0200073) Respiratory insufficiency due to defective ciliary clearance 10 / 7739
8
(HPO:0012265) Ciliary dyskinesia 32 / 7739
9
(HPO:0002110) Bronchiectasis 73 / 7739
10
(HPO:0002205) Recurrent respiratory infections 254 / 7739
11
(OMIM) Decreased nasal nitric oxide 8 / 7739
12
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
(OMIM) Rhinitis, recurrent 7 / 7739
14
(OMIM) Electron microscopy of patient respiratory cells shows defects in inner and outer dynein arms 1 / 7739
15
(OMIM) Decreased ciliary motility 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Primary ciliary dyskinesia-28 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have recurrent upper and lower airway disease, bronchiectasis, and decreased fertility. About half of patients show laterality defects, including situs inversus. Respiratory cilia ...
Clinical Description OMIM Knowles et al. (2013) reported 14 patients from 11 unrelated families with primary ciliary dyskinesia. All patients had classic features of CILD with or without situs inversus, including neonatal respiratory distress, recurrent sinopulmonary infections, and decreased nasal nitric ...
Molecular genetics OMIM In 3 sibs with primary ciliary dyskinesia with inner and outer dynein arm defects, Knowles et al. (2013) identified compound heterozygosity for a mutation in the SPAG1 gene (603395.0001) and a large 11.97-kb deletion involving the SPAG1 gene ...