CILIARY DYSKINESIA, PRIMARY, 20

General Information (adopted from Orphanet):

Synonyms, Signs: CILD20
CILIARY DYSKINESIA, PRIMARY, 20, WITH OR WITHOUT SITUS INVERSUS
Number of Symptoms 19
OrphanetNr:
OMIM Id: 615067
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:0000246) Sinusitis 73 / 7739
3
(HPO:0000403) Recurrent otitis media 61 / 7739
4
(HPO:0001696) Situs inversus totalis Occasional [HPO:skoehler] 44 / 7739
5
(HPO:0001651) Dextrocardia 38 / 7739
6
(HPO:0200073) Respiratory insufficiency due to defective ciliary clearance 10 / 7739
7
(HPO:0002205) Recurrent respiratory infections 254 / 7739
8
(HPO:0006532) Recurrent pneumonia 48 / 7739
9
(HPO:0012265) Ciliary dyskinesia 32 / 7739
10
(HPO:0100750) Atelectasis 17 / 7739
11
(HPO:0002110) Bronchiectasis 73 / 7739
12
(HPO:0012256) Absent outer dynein arms 4 / 7739
13
(HPO:0012735) Cough 24 / 7739
14
(OMIM) Respiratory epithelial show lack of ciliary movement or abnormal movement 1 / 7739
15
([DEL]MedDRA:10011224) Cough 70 / 7739
16
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
17
(OMIM) Decreased nasal nitric oxide 8 / 7739
18
(OMIM) Complex cardiac malformation 3 / 7739
19
(OMIM) Electron microscopy of patient respiratory cells shows loss of ciliary outer dynein arms 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) CILD20 is an autosomal recessive ciliopathy characterized by infantile onset of chronic sinopulmonary infections resulting from immotile cilia and defective clearance. Patients may also have situs inversus or cardiac anomalies. Electron microscopy of respiratory epithelial cells shows absence ...
Clinical Description OMIM Onoufriadis et al. (2013) reported a large multigenerational consanguineous family from Volendam, North Holland, in which 8 individuals had primary ciliary dyskinesia. Eight additional patients with this disorder from 7 other families were also ascertained. Affected individuals presented ...
Molecular genetics OMIM In affected members of a large multigenerational family from an isolated region of North Holland with primary ciliary dyskinesia-20, Onoufriadis et al. (2013) identified a homozygous mutation in the CCDC114 gene (742G-A; 615038.0001), demonstrated to result in a ...
Population genetics OMIM Onoufriadis et al. (2013) reported 9 families with CILD20 from Volendam, a small fishing village in North Holland that has been genetically isolated for geographic and religious reasons since the 15th century. All affected individuals were homozygous for ...