CILD17
MCID: CLR102
MIFTS: 22

Ciliary Dyskinesia, Primary, 17 (CILD17)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 17

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 17:

Name: Ciliary Dyskinesia, Primary, 17 57 75 29 13 6 73
Cild17 57 12 75
Primary Ciliary Dyskinesia 17 with or Without Situs Inversus 12 75
Ciliary Dyskinesia, Primary, 17, with or Without Situs Inversus 57
Dyskinesia, Ciliary, Primary, 17 40
Primary Ciliary Dyskinesia 17 12
Immotile Cilia Syndrome 17 75
Ics17 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth


HPO:

32
ciliary dyskinesia, primary, 17:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ciliary Dyskinesia, Primary, 17

UniProtKB/Swiss-Prot : 75 Ciliary dyskinesia, primary, 17: 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; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients 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.

MalaCards based summary : Ciliary Dyskinesia, Primary, 17, is also known as cild17. An important gene associated with Ciliary Dyskinesia, Primary, 17 is CCDC103 (Coiled-Coil Domain Containing 103). Related phenotypes are recurrent respiratory infections and cough

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects and has material basis in homozygous mutation in the CCDC103 gene on chromosome 17q21.

OMIM : 57 Primary ciliary dyskinesia-17 is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with a defect in the function of ciliary outer dynein arms. Situs inversus is variable (summary by Panizzi et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). (614679)

Related Diseases for Ciliary Dyskinesia, Primary, 17

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 17

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
recurrent respiratory infections
recurrent cough

Head And Neck Nose:
chronic rhinitis

Abdomen:
situs inversus (in some patients)

Head And Neck Ears:
chronic otitis

Respiratory Lung:
bronchiectasis

Head And Neck Head:
chronic sinusitis

Laboratory Abnormalities:
immotile or weakly motile cilia
loss of ciliary beat coordination
inner and outer dynein arm defects, variable

Cardiovascular Heart:
dextrocardia (in some)


Clinical features from OMIM:

614679

Human phenotypes related to Ciliary Dyskinesia, Primary, 17:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 32 HP:0002205
2 cough 32 HP:0012735
3 situs inversus totalis 32 occasional (7.5%) HP:0001696
4 bronchiectasis 32 HP:0002110
5 chronic rhinitis 32 HP:0002257
6 abnormal respiratory motile cilium morphology 32 HP:0005938
7 chronic sinusitis 32 HP:0011109
8 ciliary dyskinesia 32 HP:0012265

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 17

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 17

Genetic Tests for Ciliary Dyskinesia, Primary, 17

Genetic tests related to Ciliary Dyskinesia, Primary, 17:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 17 29 CCDC103

Anatomical Context for Ciliary Dyskinesia, Primary, 17

Publications for Ciliary Dyskinesia, Primary, 17

Variations for Ciliary Dyskinesia, Primary, 17

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 17:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CCDC103 NM_213607.2(CCDC103): c.383dupG (p.Pro129Serfs) duplication Pathogenic rs587776910 GRCh37 Chromosome 17, 42979839: 42979839
2 CCDC103 NM_213607.2(CCDC103): c.383dupG (p.Pro129Serfs) duplication Pathogenic rs587776910 GRCh38 Chromosome 17, 44902471: 44902471
3 CCDC103 NM_213607.2(CCDC103): c.461A> C (p.His154Pro) single nucleotide variant Pathogenic/Likely pathogenic rs145457535 GRCh37 Chromosome 17, 42979917: 42979917
4 CCDC103 NM_213607.2(CCDC103): c.461A> C (p.His154Pro) single nucleotide variant Pathogenic/Likely pathogenic rs145457535 GRCh38 Chromosome 17, 44902549: 44902549
5 CCDC103 NM_213607.2(CCDC103): c.359A> G (p.Tyr120Cys) single nucleotide variant Uncertain significance rs149858795 GRCh38 Chromosome 17, 44902447: 44902447
6 CCDC103 NM_213607.2(CCDC103): c.359A> G (p.Tyr120Cys) single nucleotide variant Uncertain significance rs149858795 GRCh37 Chromosome 17, 42979815: 42979815

Expression for Ciliary Dyskinesia, Primary, 17

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 17.

Pathways for Ciliary Dyskinesia, Primary, 17

GO Terms for Ciliary Dyskinesia, Primary, 17

Sources for Ciliary Dyskinesia, Primary, 17

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