CILIARY DYSKINESIA, PRIMARY, 15

General Information (adopted from Orphanet):

Synonyms, Signs: CILIARY DYSKINESIA, PRIMARY, 15, WITH OR WITHOUT SITUS INVERSUS
CILD15
Number of Symptoms 9
OrphanetNr:
OMIM Id: 613808
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:0000789) Infertility 74 / 7739
2
(HPO:0000246) Sinusitis 73 / 7739
3
(HPO:0000403) Recurrent otitis media 61 / 7739
4
(HPO:0001696) Situs inversus totalis 11/16 [HPO:probinson] 44 / 7739
5
(HPO:0002205) Recurrent respiratory infections 254 / 7739
6
(HPO:0012265) Ciliary dyskinesia 32 / 7739
7
(HPO:0012258) Abnormal axonemal organization of respiratory motile cilia 2 / 7739
8
(HPO:0002110) Bronchiectasis 73 / 7739
9
(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-15 is an autosomal recessive disorder characterized by recurrent respiratory infections associated with defects in ciliary inner dynein arms and axonemal disorganization (summary by Becker-Heck et al., 2011).

For a general phenotypic description and ...

Clinical Description OMIM Becker-Heck et al. (2011) reported 14 families with CILD15. Affected individuals had recurrent upper and lower airway infections; in addition, 5 (32%) had situs solitus (32%) and 11 (68%) showed situs inversus, consistent with randomization of left-right body ...
Molecular genetics OMIM In 17 patients with primary ciliary dyskinesia-15, Becker-Heck et al. (2011) identified loss-of-function mutations in the CCDC40 gene (see, e.g., 613799.0001-613799.0004). All patients except 1 were homozygous or compound heterozygous for the mutations; a second mutant allele could ...