CILIARY DYSKINESIA, PRIMARY, 3

General Information (adopted from Orphanet):

Synonyms, Signs: CILIARY DYSKINESIA, PRIMARY, 3, WITH OR WITHOUT SITUS INVERSUS
CILD3
Number of Symptoms 4
OrphanetNr:
OMIM Id: 608644
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 44 / 7739
2
(HPO:0012265) Ciliary dyskinesia 32 / 7739
3
(HPO:0002205) Recurrent respiratory infections 254 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 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 Omran et al. (2000) studied a large consanguineous family of Arabic origin with primary ciliary dyskinesia. Direct examination of the respiratory cilia revealed ciliary akinesia, and electron microscopy of cilia showed absence of the outer dynein arms. Two ...
Molecular genetics OMIM Olbrich et al. (2002) found 7 individuals from 6 families with primary ciliary dyskinesia or Kartagener syndrome who had mutations in the DNAH5 gene (see, e.g., 603335.0001-603335.0003). In 5 of these families there were affected individuals with and ...