CILIARY DYSKINESIA, PRIMARY, 25

General Information (adopted from Orphanet):

Synonyms, Signs: CILIARY DYSKINESIA, PRIMARY, 25, WITH OR WITHOUT SITUS INVERSUS
CILD25
Number of Symptoms 15
OrphanetNr:
OMIM Id: 615482
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000789) Infertility 74 / 7739
2
(HPO:0011108) Recurrent sinusitis 30 / 7739
3
(HPO:0000246) Sinusitis 73 / 7739
4
(HPO:0001696) Situs inversus totalis 44 / 7739
5
(HPO:0001651) Dextrocardia 38 / 7739
6
(HPO:0002205) Recurrent respiratory infections 254 / 7739
7
(HPO:0012265) Ciliary dyskinesia 32 / 7739
8
(HPO:0012263) Immotile cilia 7 / 7739
9
(HPO:0002110) Bronchiectasis 73 / 7739
10
(HPO:0006510) Chronic obstructive pulmonary disease 19 / 7739
11
(HPO:0003593) Infantile onset 249 / 7739
12
(OMIM) Recurrent respiratory infections due to defective cilia function 1 / 7739
13
(OMIM) Otitis, recurrent 7 / 7739
14
(OMIM) Cilia show inner and outer dynein arm defects 1 / 7739
15
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Primary ciliary dyskinesia-25 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 totalis. Respiratory ...
Clinical Description OMIM Tarkar et al. (2013) reported 12 patients with classic primary ciliary dyskinesia. Symptoms included recurrent upper and lower airway disease and bronchiectasis. Seven patients had neonatal respiratory distress syndrome. Four patients had reduced fertility. Five (42%) of the ...
Molecular genetics OMIM In 12 patients with primary ciliary dyskinesia-25, Tarkar et al. (2013) identified 9 different mutations in the DYX1C1 gene (see, e.g., 608706.0003-608706.0006). All mutations occurred in homozygous or compound heterozygous state and segregated with the disorder in the ...