Ciliary dyskinesia, primary, 22

Preferred Label : Ciliary dyskinesia, primary, 22;

Symbol : CILD22;

CISMeF acronym : CILD22;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ciliary dyskinesia, primary, 22, with or without situs inversus;

Description : Primary ciliary dyskinesia-22 is an autosomal recessive disorder caused by defective structure and function of cilia or flagella. Ciliary dysfunction causes respiratory distress in term neonates, impaired mucociliary clearance, chronic cough, sinusitis, bronchiectasis, and male infertility. Defective motility of embryonic nodal cilia leads to situs abnormalities in about 50% of patients. CILD22 is characterized by defects of the inner and outer dynein arms (summary by Zariwala et al., 2013).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the zinc finger MYND domain-containing protein 10 (ZMYND10, 607070.0001);

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

Prefixed ID : #615444;

Details

Origin ID

615444;

UMLS CUI

C3809543;

Currated CISMeF NLP mapping
- primary ciliary dyskinesia 22 [DO Concept]
DO Cross reference
- primary ciliary dyskinesia 22 [DO Concept]
Genes related to phenotype
- Zinc finger mynd domain-containing protein 10 [OMIM gene]
HPO term(s)
- Absent inner and outer dynein arms [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
- Childhood onset [HPO term]
- Chronic bronchitis [HPO term]
- Ciliary dyskinesia [HPO term]
- Decreased nasal nitric oxide [HPO term]
- Dextrocardia [HPO term]
- Immotile cilia [HPO term]
- Infantile onset [HPO term]
- Infertility [HPO term]
- Juvenile onset [HPO term]
- Nasal polyposis [HPO term]
- Neonatal respiratory distress [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent respiratory infections [HPO term]
- Recurrent sinusitis [HPO term]
- Reduced sperm motility [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)
- ZMYND10 wt Allele [NCIt concept]
- zinc finger MYND-type containing 10 [ORDO Gene]
- zinc finger MYND-type containing 10 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- primary ciliary dyskinesia 22 [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients