Ciliary dyskinesia, primary, 33

Preferred Label : Ciliary dyskinesia, primary, 33;

Symbol : CILD33;

CISMeF acronym : CILD33;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ciliary dyskinesia, primary, 33, without situs inversus;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the growth arrest-specific 8 gene (GAS8, 605178.0001);

Laboratory abnormalities : Decreased nasal nitric oxide (NO) levels; Cilia show increased frequency misaligned outer doublets; Respiratory epithelial cell cilia show subtle beating defects;

Prefixed ID : #616726;

Details

Origin ID

616726;

UMLS CUI

C4225230;

CISMeF manual mappings
- primary ciliary dyskinesia 33 [DO Concept]
DO Cross reference
- primary ciliary dyskinesia 33 [DO Concept]
Genes related to phenotype
- Growth arrest-specific 8 [OMIM gene]
HPO term(s)
- Atelectasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
- Chronic rhinitis [HPO term]
- Ciliary dyskinesia [HPO term]
- Conductive hearing impairment [HPO term]
- Cough [HPO term]
- Recurrent bronchitis [HPO term]
- Recurrent lower respiratory tract infections [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent pneumonia [HPO term]
ORDO concept(s)
- Primary ciliary dyskinesia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- primary ciliary dyskinesia 33 [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients