CILD20
MCID: CLR105
MIFTS: 22

Ciliary Dyskinesia, Primary, 20 (CILD20)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases, Respiratory diseases

Aliases & Classifications for Ciliary Dyskinesia, Primary, 20

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 20:

Name: Ciliary Dyskinesia, Primary, 20 57 75 29 13 6 73
Cild20 57 12 75
Primary Ciliary Dyskinesia 20 with or Without Situs Inversus 12 75
Ciliary Dyskinesia, Primary, 20, with or Without Situs Inversus 57
Dyskinesia, Ciliary, Primary, 20 40
Primary Ciliary Dyskinesia 20 12
Immotile Cilia Syndrome 20 75
Ics20 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy


HPO:

32
ciliary dyskinesia, primary, 20:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ciliary Dyskinesia, Primary, 20

UniProtKB/Swiss-Prot : 75 Ciliary dyskinesia, primary, 20: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. Unlike other forms of CILD characterized by reduced fertility, patients with CILD20 do not appear to be infertile.

MalaCards based summary : Ciliary Dyskinesia, Primary, 20, is also known as cild20, and has symptoms including rhinorrhea and coughing. An important gene associated with Ciliary Dyskinesia, Primary, 20 is CCDC114 (Coiled-Coil Domain Containing 114). Related phenotypes are recurrent otitis media and atelectasis

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, infantile onset of chronic sinopulmonary infections, and variable occurence of laterality defects and has material basis in homozygous or compound heterozygous mutation in the CCDC114 gene on chromosome 19q13.

OMIM : 57 CILD20 is an autosomal recessive ciliopathy characterized by infantile onset of chronic sinopulmonary infections resulting from immotile cilia and defective clearance. Patients may also have situs inversus or cardiac anomalies. Electron microscopy of respiratory epithelial cells shows absence of the outer dynein arms. Unlike other forms of CILD, patients with CILD20 do not appear to be infertile. For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400. (615067)

Related Diseases for Ciliary Dyskinesia, Primary, 20

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 20

Symptoms via clinical synopsis from OMIM:

57
Respiratory Lung:
atelectasis
bronchiectasis
pneumonia, recurrent

Head And Neck Nose:
rhinorrhea
sinusitis, recurrent

Laboratory Abnormalities:
decreased nasal nitric oxide
respiratory epithelial show lack of ciliary movement or abnormal movement
electron microscopy of patient respiratory cells shows loss of ciliary outer dynein arms

Abdomen:
situs inversus (in some patients)

Respiratory:
cough
respiratory infections, recurrent
respiratory insufficiency due to defective ciliary clearance

Head And Neck Ears:
otitis media, recurrent

Genitourinary Internal Genitalia Male:
normal fertility

Cardiovascular Heart:
dextrocardia (in some patients)
complex cardiac malformations (in some patients)


Clinical features from OMIM:

615067

Human phenotypes related to Ciliary Dyskinesia, Primary, 20:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 recurrent otitis media 32 HP:0000403
2 atelectasis 32 HP:0100750
3 recurrent pneumonia 32 HP:0006532
4 cough 32 HP:0012735
5 situs inversus totalis 32 occasional (7.5%) HP:0001696
6 bronchiectasis 32 HP:0002110
7 ciliary dyskinesia 32 HP:0012265
8 rhinorrhea 32 HP:0031417
9 recurrent sinusitis 32 HP:0011108
10 respiratory insufficiency due to defective ciliary clearance 32 HP:0200073
11 absent outer dynein arms 32 HP:0012256

UMLS symptoms related to Ciliary Dyskinesia, Primary, 20:


rhinorrhea, coughing

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 20

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 20

Genetic Tests for Ciliary Dyskinesia, Primary, 20

Genetic tests related to Ciliary Dyskinesia, Primary, 20:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 20 29 CCDC114

Anatomical Context for Ciliary Dyskinesia, Primary, 20

Publications for Ciliary Dyskinesia, Primary, 20

Variations for Ciliary Dyskinesia, Primary, 20

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 20:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CCDC114 NM_144577.3(CCDC114): c.742G> A (p.Ala248Thr) single nucleotide variant Pathogenic rs147718607 GRCh37 Chromosome 19, 48807210: 48807210
2 CCDC114 NM_144577.3(CCDC114): c.742G> A (p.Ala248Thr) single nucleotide variant Pathogenic rs147718607 GRCh38 Chromosome 19, 48303953: 48303953
3 CCDC114 NM_144577.3(CCDC114): c.486+1G> A single nucleotide variant Pathogenic rs606231238 GRCh38 Chromosome 19, 48311552: 48311552
4 CCDC114 NM_144577.3(CCDC114): c.486+1G> A single nucleotide variant Pathogenic rs606231238 GRCh37 Chromosome 19, 48814809: 48814809
5 CCDC114 NM_144577.3(CCDC114): c.487-2A> G single nucleotide variant Pathogenic rs606231239 GRCh38 Chromosome 19, 48306325: 48306325
6 CCDC114 NM_144577.3(CCDC114): c.487-2A> G single nucleotide variant Pathogenic rs606231239 GRCh37 Chromosome 19, 48809582: 48809582
7 CCDC114 NM_144577.3(CCDC114): c.1391+5G> A single nucleotide variant Pathogenic rs201133219 GRCh37 Chromosome 19, 48801252: 48801252
8 CCDC114 NM_144577.3(CCDC114): c.1391+5G> A single nucleotide variant Pathogenic rs201133219 GRCh38 Chromosome 19, 48297995: 48297995
9 CCDC114 NM_144577.3(CCDC114): c.939delT (p.His313Glnfs) deletion Pathogenic rs606231240 GRCh38 Chromosome 19, 48303034: 48303034
10 CCDC114 NM_144577.3(CCDC114): c.939delT (p.His313Glnfs) deletion Pathogenic rs606231240 GRCh37 Chromosome 19, 48806291: 48806291

Expression for Ciliary Dyskinesia, Primary, 20

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 20.

Pathways for Ciliary Dyskinesia, Primary, 20

GO Terms for Ciliary Dyskinesia, Primary, 20

Sources for Ciliary Dyskinesia, Primary, 20

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