CILIARY DYSKINESIA WITH EXCESSIVELY LONG CILIA

General Information (adopted from Orphanet):

Synonyms, Signs: IMMOTILE CILIA SYNDROME DUE TO EXCESSIVELY LONG CILIA
Number of Symptoms 12
OrphanetNr:
OMIM Id: 242680
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:0002257) Chronic rhinitis 10 / 7739
3
 (HPO:0100582) Nasal polyposis 14 / 7739
4
 (HPO:0002837) Recurrent bronchitis 21 / 7739
5
 (HPO:0005938) Abnormal respiratory motile cilium morphology 7 / 7739
6
 (HPO:0012387) Bronchitis 8 / 7739
7
 (HPO:0012263) Immotile cilia 7 / 7739
8
 (HPO:0012265) Ciliary dyskinesia 32 / 7739
9
 (HPO:0006536) Obstructive lung disease 7 / 7739
10
 (OMIM) Decreased mucociliary clearance 1 / 7739
11
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
 (OMIM) Nasal cilia abnormally long but with normal diameter 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: