Ciliary dyskinesia, primary, 25

Preferred Label : Ciliary dyskinesia, primary, 25;

Symbol : CILD25;

CISMeF acronym : CILD25;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ciliary dyskinesia, primary, 25, with or without situs inversus;

Description : Primary ciliary dyskinesia-25 is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have recurrent upper and lower airway disease, bronchiectasis, and decreased fertility. About half of patients show laterality defects, including situs inversus totalis. Respiratory cilia from patients show defects in the inner and outer dynein arms (summary by Tarkar et al., 2013). 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 dyslexia susceptibility 1 candidate 1 gene (DYX1C1, 608706.0001);

Laboratory abnormalities : Cilia show inner and outer dynein arm defects; Immotile cilia;

Prefixed ID : #615482;

Détails

Origin ID

615482;

UMLS CUI

C3809641;

Currated CISMeF NLP mapping
- primary ciliary dyskinesia 25 [DO Concept]
DO Cross reference
- primary ciliary dyskinesia 25 [DO Concept]
Genes related to phenotype
- Dynein, axonemal, assembly factor 4 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
- Chronic pulmonary obstruction [HPO term]
- Ciliary dyskinesia [HPO term]
- Dextrocardia [HPO term]
- Immotile cilia [HPO term]
- Infantile onset [HPO term]
- Infertility [HPO term]
- Recurrent respiratory infections [HPO term]
- Recurrent sinusitis [HPO term]
- Sinusitis [HPO term]
- Situs inversus totalis [HPO term]
ORDO concept(s)
- Primary ciliary dyskinesia [ORDO Disease]
See also inter- (CISMeF)
- dynein axonemal assembly factor 4 [ORDO Gene]
- dynein axonemal assembly factor 4 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- primary ciliary dyskinesia 25 [DO Concept]

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