CILIARY DYSKINESIA, PRIMARY, 10

General Information (adopted from Orphanet):

Synonyms, Signs: CILD10
Number of Symptoms 7
OrphanetNr:
OMIM Id: 612518
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:0011108) Recurrent sinusitis 30 / 7739
2
 (HPO:0011109) Chronic sinusitis 17 / 7739
3
 (HPO:0000389) Chronic otitis media 64 / 7739
4
 (HPO:0001696) Situs inversus totalis 44 / 7739
5
 (HPO:0012265) Ciliary dyskinesia 32 / 7739
6
 (HPO:0005938) Abnormal respiratory motile cilium morphology 7 / 7739
7
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Omran et al. (2008) reported 3 individuals with primary ciliary dyskinesia from 2 families, both consanguineous, who carried mutations in the KTU gene. In all affected individuals there was no detectable KTU protein, and transmission electron microscopy of ...
Molecular genetics OMIM Among affected individuals from 112 families with primary ciliary dyskinesia, Omran et al. (2008) identified loss-of-function mutations in the KTU gene in 3 individuals from 2 consanguineous families.