CILIARY DYSKINESIA, PRIMARY, 16

General Information (adopted from Orphanet):

Synonyms, Signs: CILIARY DYSKINESIA, PRIMARY, 16, WITH OR WITHOUT SITUS INVERSUS
CILD16
Number of Symptoms 13
OrphanetNr:
OMIM Id: 614017
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:0002257) Chronic rhinitis 10 / 7739
2
(HPO:0011109) Chronic sinusitis 17 / 7739
3
(HPO:0000389) Chronic otitis media 64 / 7739
4
(HPO:0001696) Situs inversus totalis 44 / 7739
5
(HPO:0012265) Ciliary dyskinesia 32 / 7739
6
(HPO:0012256) Absent outer dynein arms 4 / 7739
7
(HPO:0002110) Bronchiectasis 73 / 7739
8
(HPO:0012262) Abnormal ciliary motility 5 / 7739
9
(HPO:0003577) Congenital onset 133 / 7739
10
(OMIM) Chronic pulmonary insufficiency 1 / 7739
11
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
(OMIM) Absence of outer dynein arms 1 / 7739
13
(OMIM) Immotile or weakly motile cilia 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Primary ciliary dyskinesia-16 is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with absence of ciliary outer dynein arms (summary by Mazor et al., 2011).

For a general phenotypic description and ...

Clinical Description OMIM Mazor et al. (2011) reported 3 patients, including 2 sibs, from 2 consanguineous Bedouin families with primary ciliary dyskinesia. The patients had classic features of the disorder, including neonatal respiratory distress, chronic sinopulmonary infection leading to severe morbidity, ...
Molecular genetics OMIM By linkage analysis followed by candidate gene sequencing in 3 patients with primary ciliary dyskinesia, Mazor et al. (2011) identified a homozygous mutation in the DNAL1 gene (N150S; 610062.0001). Heterozygous mutation carriers were not clinically affected.