CILIARY DYSKINESIA, PRIMARY, 2

General Information (adopted from Orphanet):

Synonyms, Signs: CILIARY DYSKINESIA, PRIMARY, 2, WITH OR WITHOUT SITUS INVERSUS
CILD2
Number of Symptoms 15
OrphanetNr:
OMIM Id: 606763
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Congenital onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000789) Infertility 74 / 7739
2
(HPO:0100582) Nasal polyposis 14 / 7739
3
(HPO:0000246) Sinusitis 73 / 7739
4
(HPO:0000365) Hearing impairment rare [HPO:skoehler] 539 / 7739
5
(HPO:0000388) Otitis media 28 / 7739
6
(HPO:0001696) Situs inversus totalis 44 / 7739
7
(HPO:0001651) Dextrocardia 38 / 7739
8
(HPO:0002098) Respiratory distress 75 / 7739
9
(HPO:0012263) Immotile cilia 7 / 7739
10
(HPO:0012259) Absent inner and outer dynein arms 22387996 IBIS 2 / 7739
11
(HPO:0012265) Ciliary dyskinesia 32 / 7739
12
(HPO:0002110) Bronchiectasis 73 / 7739
13
(HPO:0002205) Recurrent respiratory infections 254 / 7739
14
(HPO:0003577) Congenital onset 133 / 7739
15
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Mitchison et al. (2012) reported 3 unrelated consanguineous families with primary ciliary dyskinesia-2, 2 of whom had been reported by Meeks et al. (2000). Clinical features included otitis media, sinusitis, chronic cough, and recurrent respiratory infections, often resulting ...
Molecular genetics OMIM In affected members of 3 unrelated consanguineous families with primary ciliary dyskinesia-2, Mitchison et al. (2012) identified 3 different homozygous mutations in the DNAAF3 gene (614566.0001-614566.0003). Two of the families had been reported by Meeks et al. (2000). ...