Ciliary dyskinesia, primary, 5

Preferred Label : Ciliary dyskinesia, primary, 5;

Symbol : CILD5;

CISMeF acronym : CILD5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ciliary dyskinesia, primary, 5, without situs inversus;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the HYDIN axonemal central pair apparatus protein gene (HYDIN, 610812.0001);

Laboratory abnormalities : Respiratory cilia and sperm flagella show reduced coordination of beating activity; Rare occurrences of 9 0 or 8 1 cilia; High-resolution electron microscopy tomography shows absence of projection C2b at the central pair (CP) apparatus of cilia; Transmission electron microscopy (TEM) of patient respiratory cilia shows normal 9 2 axonemal composition; Reduced beating amplitudes in cilia; Reduced bending capacity of cilia;

Prefixed ID : #608647;

Details

Origin ID

608647;

UMLS CUI

C1837615;

Automatic exact mappings (from CISMeF team)
- HYDIN axonemal central pair apparatus protein [ORDO Gene]
- HYDIN axonemal central pair apparatus protein [HGNC gene]
Broader ORDO disease(s)
- Primary ciliary dyskinesia [ORDO Disease]
Currated CISMeF NLP mapping
- ciliary dyskinesia, primary, 5 [MeSH concept]
- ciliary dyskinesia, primary, 5 [MeSH Supplementary Concept]
- primary ciliary dyskinesia 5 [DO Concept]
DO Cross reference
- primary ciliary dyskinesia 5 [DO Concept]
Genes related to phenotype
- Hydin axonemal central pair apparatus protein [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bronchial wall thickening [HPO term]
- Bronchiectasis [HPO term]
- Childhood onset [HPO term]
- Chronic bronchitis [HPO term]
- Chronic rhinitis [HPO term]
- Ciliary dyskinesia [HPO term]
- Infantile onset [HPO term]
- Juvenile onset [HPO term]
- Nasal polyposis [HPO term]
- Neonatal onset [HPO term]
- Neonatal respiratory distress [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent respiratory infections [HPO term]
- Recurrent sinusitis [HPO term]
- Reduced sperm motility [HPO term]
- Respiratory failure [HPO term]
- Respiratory insufficiency due to defective ciliary clearance [HPO term]
- Situs inversus totalis [HPO term]
ORDO concept(s)
- Primary ciliary dyskinesia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ciliary dyskinesia, primary, 5 [MeSH Supplementary Concept]
- ciliary dyskinesia, primary, 5 [MeSH concept]
- primary ciliary dyskinesia 5 [DO Concept]

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