CILIARY DYSKINESIA, PRIMARY, 24

General Information (adopted from Orphanet):

Synonyms, Signs: CILIARY DYSKINESIA, PRIMARY, 24, WITHOUT SITUS INVERSUS
CILD24
Number of Symptoms 13
OrphanetNr:
OMIM Id: 615481
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:0000789) Infertility 74 / 7739
2
(HPO:0000246) Sinusitis 73 / 7739
3
(HPO:0012384) Rhinitis 18 / 7739
4
(HPO:0011108) Recurrent sinusitis 30 / 7739
5
(HPO:0002110) Bronchiectasis 73 / 7739
6
(HPO:0012265) Ciliary dyskinesia 32 / 7739
7
(OMIM) Decreased nasal nitric oxide 8 / 7739
8
(OMIM) Some cilia show central complex and radial spoke defects 1 / 7739
9
(OMIM) Otitis, recurrent 7 / 7739
10
(OMIM) Some cilia show abnormal beating patterns or immotility 1 / 7739
11
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
(OMIM) Rhinitis, recurrent 7 / 7739
13
(OMIM) Recurrent respiratory infections due to defective ciliary clearance 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Primary ciliary dyskinesia-24 is an autosomal recessive disorder resulting from defects of motile cilia. It is characterized clinically by sinopulmonary infection and subfertility; situs inversus is not observed. Ultrastructural examination of mutant cilia shows defects of the central ...
Clinical Description OMIM Kott et al. (2013) reported 12 patients from 10 unrelated families with primary ciliary dyskinesia. Affected individuals had a sinopulmonary syndrome characterized by otitis, rhinosinusitis, bronchiectasis, chronic obstructive pulmonary disease, and, in some cases, neonatal respiratory distress. Four ...
Molecular genetics OMIM In 12 patients from 10 families with CILD without situs inversus, Kott et al. (2013) identified 7 biallelic mutations in the RSPH1 gene (see, e.g., 609314.0001-609314.0005). The mutation in the first patient was found by a combination of ...