CILD38
MCID: CLR138
MIFTS: 22
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Ciliary Dyskinesia, Primary, 38 (CILD38)
Categories:
Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases, Respiratory diseases
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MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 38:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset in early infancy HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Reproductive diseases Respiratory diseases Ear diseases |
OMIM® :
57
Primary ciliary dyskinesia-38 is an autosomal recessive disorder characterized by chronic airway disease and recurrent sinopulmonary infections beginning in infancy and caused by defective ciliary function. Affected individuals often have neonatal respiratory distress and may later have infertility. About half of patients have laterality defects due to ciliary dysfunction in early embryonic development (summary by Fassad et al., 2018 and Hoben et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (244400). (618063) (Updated 05-Mar-2021)
MalaCards based summary : Ciliary Dyskinesia, Primary, 38, is also known as cild38. An important gene associated with Ciliary Dyskinesia, Primary, 38 is CFAP300 (Cilia And Flagella Associated Protein 300). Related phenotypes are conductive hearing impairment and chronic otitis media Disease Ontology : 12 A primary ciliary dyskinesia characterized by significant loss of both the inner and outer dynein arms, chronic airway disease, recurrent sinopulmonary infections, and laterality defects in about half of patients that has material basis in homozygous or compound heterozygous mutation in CFAP300 on chromosome 11q22.1. UniProtKB/Swiss-Prot : 73 Ciliary dyskinesia, primary, 38: 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. CILD38 inheritance is autosomal recessive. |
Human phenotypes related to Ciliary Dyskinesia, Primary, 38:31 (show all 10)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618063 (Updated 05-Mar-2021) |
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Articles related to Ciliary Dyskinesia, Primary, 38:
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ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 38:6
UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 38:73
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GEO
for disease gene expression data for Ciliary Dyskinesia, Primary, 38.
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