Ciliary dyskinesia, primary, 19

Preferred Label : Ciliary dyskinesia, primary, 19;

Symbol : CILD19;

CISMeF acronym : CILD19;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ciliary dyskinesia, primary, 19, with or without situs inversus;

Description : Primary ciliary dyskinesia-19 is an autosomal recessive ciliopathy characterized by chronic sinopulmonary infections, asthenospermia, and immotile cilia. Respiratory epithelial cells and sperm flagella of affected individuals lack both the inner and outer dynein arms. About 50% of patients have situs inversus (summary by Kott et al., 2012). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the leucine-rich repeat-containing protein 6 gene (LRRC6, 614930.0001);

Laboratory abnormalities : Electron microscopy of patient respiratory cells shows absent inner and outer dynein arms; Lack of ciliary motility;

Prefixed ID : #614935;

Details

Origin ID

614935;

UMLS CUI

C3543826;

Currated CISMeF NLP mapping
- primary ciliary dyskinesia 19 [DO Concept]
DO Cross reference
- primary ciliary dyskinesia 19 [DO Concept]
Genes related to phenotype
- Leucine-rich repeat-containing protein 6 [OMIM gene]
HPO term(s)
- Absent inner and outer dynein arms [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
- Chronic bronchitis [HPO term]
- Ciliary dyskinesia [HPO term]
- Immotile cilia [HPO term]
- Male infertility [HPO term]
- Nasal polyposis [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent respiratory infections [HPO term]
- Recurrent sinusitis [HPO term]
- Respiratory insufficiency due to defective ciliary clearance [HPO term]
- Rhinitis [HPO term]
- Situs inversus totalis [HPO term]
ORDO concept(s)
- Primary ciliary dyskinesia [ORDO Disease]
See also inter- (CISMeF)
- dynein axonemal assembly factor 11 [ORDO Gene]
- dynein axonemal assembly factor 11 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- primary ciliary dyskinesia 19 [DO Concept]

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