CILIARY DYSKINESIA WITH TRANSPOSITION OF CILIARY MICROTUBULES
General Information (adopted from Orphanet):
|
Synonyms, Signs:
|
|
|
Number of Symptoms
|
6
|
|
OrphanetNr:
|
|
|
OMIM Id:
|
215520
|
|
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.
|
|
|
|
|
|
|
|
|
|
|
1
|
(HPO:0005938)
|
Abnormal respiratory motile cilium morphology |
|
|
|
|
7 / 7739
|
|
2
|
(HPO:0005425)
|
Recurrent sinopulmonary infections |
|
|
|
|
10 / 7739
|
|
3
|
(HPO:0012265)
|
Ciliary dyskinesia |
|
|
|
|
32 / 7739
|
|
4
|
(OMIM)
|
Chronic sinopulmonary disease |
|
|
|
|
1 / 7739
|
|
5
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
6
|
(OMIM)
|
Transposition of ciliary number 1 doublet microtubule |
|
|
|
|
1 / 7739
|
ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |