Ciliary Dyskinesia, Primary, 34 (CILD34)

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Disease Ontology 12 DOID:0110610 OMIM 57 617091 PS244400

MeSH 44 D007619 MedGen 42 C4310722 CN238099

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)

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 phenotype is infertility.

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 : ⁷⁴ 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.

Clinical features from OMIM:

617091

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