Ciliary dyskinesia, primary, 14

Preferred Label : Ciliary dyskinesia, primary, 14;

Symbol : CILD14;

CISMeF acronym : CILD14;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ciliary dyskinesia, primary, 14, with or without situs inversus;

Description : Primary ciliary dyskinesia-14 is an autosomal recessive disorder characterized by recurrent respiratory infections associated with defects in ciliary inner dynein arms and axonemal disorganization (Merveille et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400).;

Prefixed ID : #613807;

Details

Origin ID

613807;

UMLS CUI

C3151136;

Currated CISMeF NLP mapping
- Primary Ciliary Dyskinesia 14 [NCIt concept]
- primary ciliary dyskinesia 14 [DO Concept]
DO Cross reference
- primary ciliary dyskinesia 14 [DO Concept]
Genes related to phenotype
- Coiled-coil domain-containing protein 39 [OMIM gene]
HPO term(s)
- Abnormal axonemal organization of respiratory motile cilia [HPO term]
- Abnormal ciliary motility [HPO term]
- Absent inner dynein arms [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
- Childhood onset [HPO term]
- Chronic bronchitis [HPO term]
- Chronic sinusitis [HPO term]
- Ciliary dyskinesia [HPO term]
- Congenital onset [HPO term]
- Cough [HPO term]
- Heterotaxy [HPO term]
- Immotile sperm [HPO term]
- Infantile onset [HPO term]
- Juvenile onset [HPO term]
- Male infertility [HPO term]
- Neonatal respiratory distress [HPO term]
- Otitis media [HPO term]
- Polysplenia [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent respiratory infections [HPO term]
- Reduced sperm motility [HPO term]
- Rhinorrhea [HPO term]
- Situs inversus totalis [HPO term]
- Wheezing [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Primary ciliary dyskinesia [ORDO Disease]
See also inter- (CISMeF)
- coiled-coil domain 39 molecular ruler complex subunit [HGNC gene]
- coiled-coil domain containing 39 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Primary Ciliary Dyskinesia 14 [NCIt concept]
- primary ciliary dyskinesia 14 [DO Concept]

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