CILIARY DYSKINESIA, PRIMARY, 22

General Information (adopted from Orphanet):

Synonyms, Signs: CILIARY DYSKINESIA, PRIMARY, 22, WITH OR WITHOUT SITUS INVERSUS
CILD22
Number of Symptoms 18
OrphanetNr:
OMIM Id: 615444
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:0012207) Reduced sperm motility 5 / 7739
2
(HPO:0000789) Infertility 74 / 7739
3
(HPO:0011108) Recurrent sinusitis 30 / 7739
4
(HPO:0100582) Nasal polyposis 14 / 7739
5
(HPO:0004469) Chronic bronchitis 17 / 7739
6
(HPO:0000246) Sinusitis 73 / 7739
7
(HPO:0012384) Rhinitis 18 / 7739
8
(HPO:0000403) Recurrent otitis media 61 / 7739
9
(HPO:0001696) Situs inversus totalis 44 / 7739
10
(HPO:0002110) Bronchiectasis 73 / 7739
11
(HPO:0200073) Respiratory insufficiency due to defective ciliary clearance 10 / 7739
12
(HPO:0002205) Recurrent respiratory infections 254 / 7739
13
(HPO:0012265) Ciliary dyskinesia 32 / 7739
14
(OMIM) Infertility due to immotile sperm 4 / 7739
15
(OMIM) Decreased nasal nitric oxide 8 / 7739
16
(OMIM) Electron microscopy of patient respiratory cells shows absent inner and outer dynein arms 2 / 7739
17
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
18
(OMIM) Lack of ciliary motility 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Primary ciliary dyskinesia-22 is an autosomal recessive disorder caused by defective structure and function of cilia or flagella. Ciliary dysfunction causes respiratory distress in term neonates, impaired mucociliary clearance, chronic cough, sinusitis, bronchiectasis, and male infertility. Defective motility ...
Clinical Description OMIM Moore et al. (2013) reported 10 patients from 6 unrelated families with CILD22. Patients presented in infancy or early childhood with recurrent respiratory infections, persistent rhinosinusitis, otitis media, chronic cough, and variable presence of situs abnormalities. Light microscopy ...
Molecular genetics OMIM In affected members of 14 families with primary ciliary dyskinesia-22, Zariwala et al. (2013) identified 11 different homozygous or compound heterozygous mutations in the ZMYND10 gene (see, e.g., 607070.0001-607070.0004). The initial mutation was found by homozygosity mapping combined ...