CILIARY DYSKINESIA, PRIMARY, 1

General Information (adopted from Orphanet):

Synonyms, Signs: SIEWERT SYNDROME, INCLUDED
IMMOTILE CILIA SYNDROME
DEXTROCARDIA, BRONCHIECTASIS, AND SINUSITIS, INCLUDED
CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS
POLYNESIAN BRONCHIECTASIS KARTAGENER SYNDROME, INCLUDED
PCD
ICS
CILD1
Number of Symptoms 27
OrphanetNr:
OMIM Id: 244400
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000789) Infertility 74 / 7739
2
(HPO:0003251) Male infertility 14 / 7739
3
(HPO:0002257) Chronic rhinitis 10 / 7739
4
(HPO:0011109) Chronic sinusitis 17 / 7739
5
(HPO:0000246) Sinusitis 73 / 7739
6
(HPO:0002688) Absent frontal sinuses 12 / 7739
7
(HPO:0012384) Rhinitis 18 / 7739
8
(HPO:0100582) Nasal polyposis 14 / 7739
9
(HPO:0000458) Anosmia 49 / 7739
10
(HPO:0000481) Abnormality of the cornea 124 / 7739
11
(HPO:0000405) Conductive hearing impairment 164 / 7739
12
(HPO:0000389) Chronic otitis media 64 / 7739
13
(HPO:0002315) Headache 175 / 7739
14
(HPO:0001696) Situs inversus totalis 44 / 7739
15
(HPO:0001746) Asplenia 19 / 7739
16
(HPO:0001651) Dextrocardia 38 / 7739
17
(HPO:0002090) Pneumonia 59 / 7739
18
(HPO:0002110) Bronchiectasis 73 / 7739
19
(HPO:0005938) Abnormal respiratory motile cilium morphology 7 / 7739
20
(HPO:0012265) Ciliary dyskinesia 32 / 7739
21
(HPO:0012263) Immotile cilia 7 / 7739
22
(HPO:0001334) Communicating hydrocephalus 32 / 7739
23
(OMIM) Absent or abnormal dynein arms of sperm and respiratory epithelial cilia by electron microscopy 1 / 7739
24
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
25
(OMIM) Poorly aerated mastoids 1 / 7739
26
(OMIM) Immotile sperm 2 / 7739
27
(HPO:0001425) Heterogeneous 132 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Primary ciliary dyskinesia is a genetically heterogeneous autosomal recessive disorder resulting from loss of function of different parts of the primary ciliary apparatus, most often dynein arms. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ...
Clinical Description OMIM Kartagener, an internist in Zurich, and Horlacher described a familial form of bronchiectasis with dextrocardia and nasal polyps (Kartagener and Horlacher, 1936). Kartagener and Stucki (1962) found 334 cases in the literature and added 2 more cases of ...
Molecular genetics OMIM In a patient with primary ciliary dyskinesia, Pennarun et al. (1999) identified 2 loss-of-function mutations in the DNAI1 gene (604366.0001-604366.0002). The patient was a 9-year-old boy, born to unrelated parents, who presented in early childhood with chronic respiratory ...