CILIARY DYSKINESIA, PRIMARY, 23

General Information (adopted from Orphanet):

Synonyms, Signs: CILD23
CILIARY DYSKINESIA, PRIMARY, 23, WITH OR WITHOUT SITUS INVERSUS
Number of Symptoms 14
OrphanetNr:
OMIM Id: 615451
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:0000246) Sinusitis 73 / 7739
2
(HPO:0011108) Recurrent sinusitis 30 / 7739
3
(HPO:0004469) Chronic bronchitis 17 / 7739
4
(HPO:0012384) Rhinitis 18 / 7739
5
(HPO:0000403) Recurrent otitis media 61 / 7739
6
(HPO:0001696) Situs inversus totalis 44 / 7739
7
(HPO:0002205) Recurrent respiratory infections 254 / 7739
8
(HPO:0012265) Ciliary dyskinesia 32 / 7739
9
(HPO:0200073) Respiratory insufficiency due to defective ciliary clearance 10 / 7739
10
(HPO:0002110) Bronchiectasis 73 / 7739
11
(OMIM) Decreased nasal nitric oxide 8 / 7739
12
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
(OMIM) Electron microscopy of patient respiratory cells shows defects of outer dynein arms 1 / 7739
14
(OMIM) Decreased or absent ciliary motility 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Primary ciliary dyskinesia-23 is an autosomal recessive disorder resulting from defective ciliary motility. Affected individuals have respiratory distress and recurrent upper and lower airway infections, and they often develop bronchiectasis. About 50% of patients have situs inversus or ...
Clinical Description OMIM Hjeij et al. (2013) reported 12 patients from 10 families with CILD. All affected individuals had recurrent upper and lower airway disease as well as bronchiectasis. Seven of 12 individuals had neonatal respiratory distress syndrome. In addition, 8 ...
Molecular genetics OMIM In 12 patients from 10 families with CILD23, Hjeij et al. (2013) identified homozygous or compound heterozygous mutations in the ARMC4 gene (see, e.g., 615408.0001-615408.0004). The first mutation, which was a deletion, was found by copy number variation ...