CILIARY DYSKINESIA, PRIMARY, 7

General Information (adopted from Orphanet):

Synonyms, Signs: CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS
CILD7
Number of Symptoms 10
OrphanetNr:
OMIM Id: 611884
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:0001696) Situs inversus totalis rare [HPO:skoehler] 44 / 7739
2
(HPO:0002110) Bronchiectasis 73 / 7739
3
(HPO:0012265) Ciliary dyskinesia 32 / 7739
4
(HPO:0002205) Recurrent respiratory infections 254 / 7739
5
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
6
(OMIM) Cilia show nonflexible and hyperkinetic beating of axonemes 1 / 7739
7
(OMIM) Male fertility remains intact 1 / 7739
8
(OMIM) Cilia may also be static, with slow activity 1 / 7739
9
(OMIM) Axonemes show normal structure 1 / 7739
10
(OMIM) Recurrent respiratory infections due to impaired ciliary motility 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Primary ciliary dyskinesia is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients ...
Clinical Description OMIM Schwabe et al. (2008) reported a German family in which 6 sibs had primary ciliary dyskinesia, 1 of whom also had situs inversus totalis, consistent with Kartagener syndrome. Clinical features included chronic respiratory infections, chronic sinusitis, recurrent bronchitis, ...
Molecular genetics OMIM In a patient with primary ciliary dyskinesia and situs inversus totalis originally reported by Pan et al. (1998), Bartoloni et al. (2002) identified a homozygous mutation in the DNAH11 gene (603339.0001).

In affected members of a ...