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CILD2
MCID: CLR066
MIFTS: 25
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Ciliary Dyskinesia, Primary, 2 (CILD2)
Categories:
Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases, Respiratory diseases
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MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 2:
Characteristics:OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
onset at birth approximately 50% of patients have situs inversus HPO:32
ciliary dyskinesia, primary, 2:
Onset and clinical course congenital onset Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Respiratory diseases Reproductive diseases Ear diseases
ICD10:
33
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UniProtKB/Swiss-Prot
:
75
Ciliary dyskinesia, primary, 2: 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; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
MalaCards based summary : Ciliary Dyskinesia, Primary, 2, also known as cild2, is related to restrictive cardiomyopathy and kartagener syndrome, and has symptoms including respiratory distress An important gene associated with Ciliary Dyskinesia, Primary, 2 is DNAAF3 (Dynein Axonemal Assembly Factor 3). Related phenotypes are hearing impairment and recurrent respiratory infections Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, otitis media, sinusitis, chronic cough, recurrent respiratory infections, and variable occurence of laterality defects and has material basis in homozygous mutation in the DNAAF3 gene on chromosome 19q13.
Description from OMIM:
606763
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:606763Human phenotypes related to Ciliary Dyskinesia, Primary, 2:32 (show all 12)
UMLS symptoms related to Ciliary Dyskinesia, Primary, 2:respiratory distress |
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Genes related to Ciliary Dyskinesia, Primary, 2 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 2:75
ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 2:6 (show all 18)
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Search
GEO
for disease gene expression data for Ciliary Dyskinesia, Primary, 2.
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