CILD35
MCID: CLR126
MIFTS: 22

Ciliary Dyskinesia, Primary, 35 (CILD35)

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

Aliases & Classifications for Ciliary Dyskinesia, Primary, 35

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 35:

Name: Ciliary Dyskinesia, Primary, 35 57 74 29 6
Cild35 57 12 74
Primary Ciliary Dyskinesia 35 with or Without Situs Inversus 12 74
Ciliary Dyskinesia, Primary, 35, with or Without Situs Inversus 57
Ciliary Dyskinesia, Primary, 35 with or Without Situs Inversus 74
Primary Ciliary Dyskinesia 35 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
three patients from 2 unrelated consanguineous families have been reported (last curated august 2016)


HPO:

32
ciliary dyskinesia, primary, 35:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110620
MeSH 44 D007619

Summaries for Ciliary Dyskinesia, Primary, 35

UniProtKB/Swiss-Prot : 74 Ciliary dyskinesia, primary, 35: A form of primary ciliary dyskinesia, 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. Some patients exhibit randomization of left- right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD35 inheritance is autosomal recessive.

MalaCards based summary : Ciliary Dyskinesia, Primary, 35, is also known as cild35. An important gene associated with Ciliary Dyskinesia, Primary, 35 is TTC25 (Tetratricopeptide Repeat Domain 25). Related phenotypes are situs inversus totalis and recurrent respiratory infections

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absent outer dynein arms, immotile cilia, variable occurence of laterality defects and recurrent upper and lower respiratory infections and has material basis in homozygous mutation in the TTC25 gene on chromosome 17q21.

OMIM : 57 Primary ciliary dyskinesia-35 is an autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to defective ciliary function. Examination of respiratory cilia shows lack of outer dynein arms (ODAs) and immotile cilia. Some patients may have laterality defects (summary by Wallmeier et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). (617092)

Related Diseases for Ciliary Dyskinesia, Primary, 35

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 35

Human phenotypes related to Ciliary Dyskinesia, Primary, 35:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 situs inversus totalis 32 occasional (7.5%) HP:0001696
2 recurrent respiratory infections 32 HP:0002205
3 cough 32 HP:0012735
4 nasal polyposis 32 HP:0100582
5 chronic sinusitis 32 HP:0011109
6 bronchiectasis 32 HP:0002110
7 chronic rhinitis 32 HP:0002257

Symptoms via clinical synopsis from OMIM:

57
Respiratory Nasopharynx:
chronic sinusitis

Head And Neck Nose:
chronic rhinitis
nasal polyps

Laboratory Abnormalities:
decreased nasal nitric oxide
respiratory cilia showed absence of the outer dynein arms
respiratory cilia are immotile

Head And Neck Ears:
chronic otitis

Respiratory Lung:
bronchiectasis

Respiratory:
chronic cough
recurrent respiratory infections due to ciliary defect

Abdomen:
situs inversus (in some patients)
situs ambiguous (in some patients)

Clinical features from OMIM:

617092

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 35

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 35

Genetic Tests for Ciliary Dyskinesia, Primary, 35

Genetic tests related to Ciliary Dyskinesia, Primary, 35:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 35 29 TTC25

Anatomical Context for Ciliary Dyskinesia, Primary, 35

Publications for Ciliary Dyskinesia, Primary, 35

Articles related to Ciliary Dyskinesia, Primary, 35:

# Title Authors PMID Year
1
TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization. 8 71
27486780 2016
2
New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia. 71
22801010 2012
3
Role of adenylate kinase type 7 expression on cilia motility: possible link in primary ciliary dyskinesia. 71
20537283 2010
4
Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype. 71
18776131 2009
5
Primary Ciliary Dyskinesia 71
20301301 2007

Variations for Ciliary Dyskinesia, Primary, 35

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 35:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TTC25 NM_031421.5(TTC25): c.114+1G> T single nucleotide variant Pathogenic rs886037888 17:40087091-40087091 17:41930838-41930838
2 TTC25 NM_031421.5(TTC25): c.425_426insT (p.Lys142fs) insertion Pathogenic rs886037889 17:40092753-40092754 17:41936500-41936501

Expression for Ciliary Dyskinesia, Primary, 35

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 35.

Pathways for Ciliary Dyskinesia, Primary, 35

GO Terms for Ciliary Dyskinesia, Primary, 35

Sources for Ciliary Dyskinesia, Primary, 35

3 CDC
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64 QIAGEN
69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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