CILIARY DYSKINESIA, PRIMARY, 6

General Information (adopted from Orphanet):

Synonyms, Signs: CILD6
Number of Symptoms 15
OrphanetNr:
OMIM Id: 610852
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:0000246) Sinusitis 73 / 7739
2
(HPO:0011108) Recurrent sinusitis 30 / 7739
3
(HPO:0002205) Recurrent respiratory infections 254 / 7739
4
(HPO:0012265) Ciliary dyskinesia 32 / 7739
5
(HPO:0005938) Abnormal respiratory motile cilium morphology 17360648 IBIS 7 / 7739
6
(HPO:0012262) Abnormal ciliary motility 5 / 7739
7
(HPO:0200109) Absent/shortened outer dynein arms 1 / 7739
8
(OMIM) Situs ambiguus 1 / 7739
9
(OMIM) Recurrent serous otitis 1 / 7739
10
(OMIM) Brochiectasis due to poor ciliary clearance 1 / 7739
11
(OMIM) Centrally located liver 1 / 7739
12
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
(OMIM) Centrally located heart 1 / 7739
14
(OMIM) Recurrent infections due to ciliary dysfunction 1 / 7739
15
(OMIM) Recurrent respiratory infections due to ciliary dysfunction 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Duriez et al. (2007) reported a 13-year-old girl with primary ciliary dyskinesia. She had chronic respiratory infections with bronchiectasis, chronic sinusitis, and serous otitis. She also had situs ambiguus with the heart and the liver located centrally. Electron ...
Molecular genetics OMIM In a girl with primary ciliary dyskinesia, Duriez et al. (2007) identified 2 variants in the TXNDC3 gene: 1 was a pathogenic mutation (607421.0001) and the other a single-nucleotide polymorphism (SNP) in a splice site (607421.0002), which was ...