Ciliary dyskinesia, primary, 1

Preferred Label : Ciliary dyskinesia, primary, 1;

Symbol : CILD1;

CISMeF acronym : ICS; CILD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ciliary dyskinesia, primary, 1, with or without situs inversus; Immotile cilia syndrome; Polynesian bronchiectasis; PCD; ICS;

Included titles and symbols : Kartagener syndrome; Dextrocardia, bronchiectasis, and sinusitis; Siewert syndrome;

Description : Primary ciliary dyskinesia is a genetically heterogeneous autosomal recessive disorder resulting from loss of function of different parts of the primary ciliary apparatus, most often dynein arms. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus (270100), and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus (Afzelius, 1976; El Zein et al., 2003). - Genetic Heterogeneity of Primary Ciliary Dyskinesia Other forms of primary ciliary dyskinesia include CILD2 (606763), caused by mutation in the DNAAF3 gene (614566) on chromosome 19q13; CILD3 (608644), caused by mutation in the DNAH5 gene (603335) on 5p; CILD4 (608646) on 15q13; CILD5 (608647), caused by mutation in the HYDIN gene (610812) on 16q22; CILD6 (610852), caused by mutation in the TXNDC3 gene (607421) on 7p14-p13; CILD7 (611884), caused by mutation in the DNAH11 gene (603339) on 7p21; CILD8 (612274) on 15q24-q25; CILD9 (612444), caused by mutation in the DNAI2 gene (605483) on 17q25; CILD10 (612518), caused by mutation in the KTU gene (612517) on 14q21.3; CILD11 (612649), caused by mutation in the RSPH4A gene (612647) on 6q22; CILD12 (612650), caused by mutation in the RSPH9 gene (612648) on 6p21; CILD13 (613193), caused by mutation in the DNAAF1 gene (613190) on 16q24.1; CILD14 (613807), caused by mutation in the CCDC39 gene (613798) gene on 3q26.33; CILD15 (613808), caused by mutation in the CCDC40 gene (613799) on 17q25.3; CILD16 (614017), caused by mutation in the DNAL1 gene (610062) on 14q24.3; CILD17 (614679), caused by mutation in the CCDC103 gene (614677) on 17q21; CILD18 (614874), caused by mutation in the;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the dynein, axonemal, intermediate chain 1 gene (DNAI1, 604366.0001).;

Laboratory abnormalities : Immotile cilia;

Prefixed ID : #244400;

Details

Origin ID

244400;

UMLS CUI

C4551906;

Automatic exact mappings (from CISMeF team)
- Apoptosis [NCIt concept]
- Between Meals [NCIt concept]
- Capacity.inspiratory [LOINC component]
- Entire intercostal space (body structure) [SNOMED CT concept]
- Icing (substance) [SNOMED CT concept]
- Immotile cilia syndrome [PASCAL descriptor]
- Inspiratory capacity (observable entity) [SNOMED CT concept]
- Intracellular Cytokine Stain Flow Cytometric Assay [NCIt concept]
- Paraneoplastic cerebellar degeneration [ORDO Disease]
- Paraneoplastic neurologic syndrome [ORDO Disease]
- Primary ciliary dyskinesia [ICD-11 More detail]
- Structure of intercostal space (body structure) [SNOMED CT concept]
- bronchiectasis [DO Concept]
- dynein axonemal assembly factor 3 [ORDO Gene]
- dynein axonemal heavy chain 5 [ORDO Gene]
- dynein axonemal intermediate chain 1 [ORDO Gene]
- dynein axonemal intermediate chain 1 [HGNC gene]
- programmed cell death [GO term]
- pterin-4 alpha-carbinolamine dehydratase 1 [ORDO Gene]
Broader ORDO disease(s)
- Primary ciliary dyskinesia [ORDO Disease]
CISMeF manual mappings
- Primary ciliary dyskinesia [ORDO Disease]
Currated CISMeF NLP mapping
- Ciliary Dyskinesia, Primary, 1 [MeSH concept]
- Ciliary Motility Defect [NCIt concept]
- Immotile cilia syndrome [MedDRA LLT]
- Immotile cilia syndrome (disorder) [SNOMED CT concept]
- Kartagener Syndrome [NCIt concept]
- Kartagener syndrome [DO Concept]
- Kartagener syndrome (disorder) [SNOMED CT concept]
- Kartagener's syndrome [MedDRA LLT]
- Primary Ciliary Dyskinesia 1 [NCIt concept]
- Primary ciliary dyskinesia [MedDRA Preferred Term]
- Primary ciliary dyskinesia (disorder) [Inactive SNOMED CT concept]
- Primary ciliary dyskinesia, Kartagener type [ORDO Disease]
- Primary ciliary dyskinesia, Kartagener type [ICD-11 More detail]
- ciliary motility disorders [MeSH Descriptor]
- ciliary motility disorders [MeSH concept]
- immotile cilia syndrome [SNOMED Notion]
- kartagener syndrome [SNOMED Notion]
- kartagener syndrome [MeSH concept]
- primary ciliary dyskinesia [DO Concept]
- primary ciliary dyskinesia 1 [DO Concept]
DO Cross reference
- primary ciliary dyskinesia 1 [DO Concept]
False automatic mappings
- Iceland [NCIt concept]
- Intradermal Route of Administration [NCIt concept]
- PCD Regimen [NCIt concept]
- paraneoplastic cerebellar degeneration [MeSH Descriptor]
Genes related to phenotype
- Dynein, axonemal, intermediate chain 1 [OMIM gene]
HPO term(s)
- Abnormal cornea morphology [HPO term]
- Absent frontal sinuses [HPO term]
- Absent outer dynein arms [HPO term]
- Anosmia [HPO term]
- Asplenia [HPO term]
- Atelectasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bronchiectasis [HPO term]
- Chronic otitis media [HPO term]
- Chronic rhinitis [HPO term]
- Chronic sinusitis [HPO term]
- Ciliary dyskinesia [HPO term]
- Communicating hydrocephalus [HPO term]
- Conductive deafness [HPO term]
- Conductive hearing impairment [HPO term]
- Headache [HPO term]
- Immotile cilia [HPO term]
- Male infertility [HPO term]
- Nasal polyposis [HPO term]
- Nasal polyps [HPO term]
- Pneumonia [HPO term]
- Recurrent bronchitis [HPO term]
- Situs inversus totalis [HPO term]
ORDO concept(s)
- Primary ciliary dyskinesia [ORDO Disease]
- Primary ciliary dyskinesia, Kartagener type [ORDO Disease]
See also inter- (CISMeF)
- Kartagener syndrome [Disease (Nov.)]
- Kartagener syndrome [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Primary Ciliary Dyskinesia 1 [NCIt concept]

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