Ciliary dyskinesia, primary, 16

Preferred Label : Ciliary dyskinesia, primary, 16;

Symbol : CILD16;

CISMeF acronym : CILD16;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ciliary dyskinesia, primary, 16, with or without situs inversus;

Description : Primary ciliary dyskinesia-16 is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with absence of ciliary outer dynein arms (summary by Mazor et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dynein, axonemal, light chain 1 gene (DNAL1, 610062.0001);

Laboratory abnormalities : Immotile or weakly motile cilia; Absence of outer dynein arms;

Prefixed ID : #614017;

Details

Origin ID

614017;

UMLS CUI

C3151460;

Currated CISMeF NLP mapping
- primary ciliary dyskinesia 16 [DO Concept]
DO Cross reference
- primary ciliary dyskinesia 16 [DO Concept]
Genes related to phenotype
- Dynein, axonemal, light chain 1 [OMIM gene]
HPO term(s)
- Abnormal ciliary motility [HPO term]
- Absent outer dynein arms [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
- Chronic otitis media [HPO term]
- Chronic rhinitis [HPO term]
- Chronic sinusitis [HPO term]
- Ciliary dyskinesia [HPO term]
- Neonatal onset [HPO term]
- Pulmonary insufficiency [HPO term]
- Situs inversus totalis [HPO term]
ORDO concept(s)
- Primary ciliary dyskinesia [ORDO Disease]
See also inter- (CISMeF)
- dynein axonemal light chain 1 [ORDO Gene]
- dynein axonemal light chain 1 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- primary ciliary dyskinesia 16 [DO Concept]

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