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CILD35
MCID: CLR126
MIFTS: 22
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Ciliary Dyskinesia, Primary, 35 (CILD35)
Categories:
Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases, Respiratory diseases
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MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 35:
Characteristics:OMIM:58
Inheritance:
autosomal recessive
Miscellaneous:
onset at birth three patients from 2 unrelated consanguineous families have been reported (last curated august 2016) HPO:33
ciliary dyskinesia, primary, 35:
Onset and clinical course congenital onset Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Respiratory diseases Reproductive diseases Ear diseases |
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UniProtKB/Swiss-Prot
:
76
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 : 58 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) |
Human phenotypes related to Ciliary Dyskinesia, Primary, 35:33 (show all 7)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:617092 |
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Genes related to Ciliary Dyskinesia, Primary, 35 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 35:6
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Search
GEO
for disease gene expression data for Ciliary Dyskinesia, Primary, 35.
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