Ciliary dyskinesia, primary, 44

Preferred Label : Ciliary dyskinesia, primary, 44;

Symbol : CILD44;

CISMeF acronym : CILD44;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ciliary dyskinesia, primary, 44, without situs inversus;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the NIMA-related kinase 10 gene (NEK10, 618726.0001);

Laboratory abnormalities : Normal ciliary beat frequency; Normal nasal nitric oxide; Reduction in overall ciliary movement; Short cilia; Normal radial ciliary ultrastructure;

Prefixed ID : #618781;

Details

Origin ID

618781;

UMLS CUI

C5394063;

Currated CISMeF NLP mapping
- primary ciliary dyskinesia 44 [DO Concept]
DO Cross reference
- primary ciliary dyskinesia 44 [DO Concept]
Genes related to phenotype
- Nima-related kinase 10 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
- Neonatal respiratory distress [HPO term]
- Otitis media [HPO term]
- Recurrent sinusitis [HPO term]
- Reduced forced expiratory volume in one second [HPO term]
- Reduced forced vital capacity [HPO term]
Not associated HPO term(s)
- Abnormal sweat electrolytes [HPO term]
- Heterotaxy [HPO term]
ORDO concept(s)
- Primary ciliary dyskinesia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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