CILD34
MCID: CLR124
MIFTS: 20
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Ciliary Dyskinesia, Primary, 34 (CILD34)
Categories:
Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases, Respiratory diseases
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MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 34:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset in childhood no laterality defects three patients from 2 unrelated families have been reported (last curated august 2016) HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Reproductive diseases Respiratory diseases Ear diseases |
OMIM® :
57
Primary ciliary dyskinesia-34 (CILD34) is an autosomal recessive disorder characterized by childhood onset of recurrent sinopulmonary infections due to impaired ciliary function. Affected males are infertile due to impaired sperm function and viability. Laterality defects have not been observed in this type of CILD (summary by El Khouri et al., 2016).
For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). (617091) (Updated 05-Mar-2021)
MalaCards based summary : Ciliary Dyskinesia, Primary, 34, is also known as cild34. An important gene associated with Ciliary Dyskinesia, Primary, 34 is DNAJB13 (DnaJ Heat Shock Protein Family (Hsp40) Member B13). Related phenotypes are neonatal respiratory distress and bronchiectasis Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with childhood onset of recurrent sinopulmonary infections and male infertility and has material basis in homozygous mutation in the DNAJB13 gene on chromosome 11q13. UniProtKB/Swiss-Prot : 73 Ciliary dyskinesia, primary, 34: 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. CILD34 inheritance is autosomal recessive. |
Human phenotypes related to Ciliary Dyskinesia, Primary, 34:31 (show all 10)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:617091 (Updated 05-Mar-2021) |
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Articles related to Ciliary Dyskinesia, Primary, 34:
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ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 34:6
UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 34:73
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GEO
for disease gene expression data for Ciliary Dyskinesia, Primary, 34.
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