CILIARY DYSKINESIA, PRIMARY, 13

General Information (adopted from Orphanet):

Synonyms, Signs: CILIARY DYSKINESIA, PRIMARY, 13, WITH OR WITHOUT SITUS INVERSUS
CILD13
Number of Symptoms 13
OrphanetNr:
OMIM Id: 613193
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:0002837) Recurrent bronchitis 21 / 7739
3
(HPO:0000246) Sinusitis 73 / 7739
4
(HPO:0000403) Recurrent otitis media 61 / 7739
5
(HPO:0001696) Situs inversus totalis 44 / 7739
6
(HPO:0001651) Dextrocardia 38 / 7739
7
(HPO:0002110) Bronchiectasis 73 / 7739
8
(HPO:0012265) Ciliary dyskinesia 32 / 7739
9
(HPO:0012257) Absent inner dynein arms 2 / 7739
10
(HPO:0012256) Absent outer dynein arms 4 / 7739
11
(HPO:0012387) Bronchitis 8 / 7739
12
(OMIM) Respiratory infections, recurrent, due to defective cilia 1 / 7739
13
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Loges et al. (2009) reported 3 unrelated patients with primary ciliary dyskinesia. Two had situs inversus totalis and severe lung disease; the third had situs solitus. Analysis of respiratory cilia showed immotile cilia due to a combined defect ...
Molecular genetics OMIM In 3 probands with primary ciliary dyskinesia associated with combined inner and outer dynein arm defects, Loges et al. (2009) identified homozygous and compound heterozygous mutations in the LRRC50 gene (see, e.g., 613190.0001 and 613190.0002). One patient was ...