Details of Disease

General Information of Disease (ID: DISP8HRY)

Disease Name Senior-Loken syndrome 8
Synonyms SENIOR-Loken syndrome 8; SLSN8; Senior-Loken syndrome 8; Senior-Loken syndrome type 8; Senior-Loken syndrome caused by mutation in WDR19; WDR19 Senior-Loken syndrome
Definition Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene.
Disease Hierarchy
DISGBSGP: Senior-Loken syndrome
DISP8HRY: Senior-Loken syndrome 8
Disease Identifiers
MONDO ID
MONDO_0014579
UMLS CUI
C4225376
OMIM ID
616307
MedGen ID
905171

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
WDR19 OTP5X5WA Strong Autosomal recessive [1]
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References

1 Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am J Hum Genet. 2011 Nov 11;89(5):634-43. doi: 10.1016/j.ajhg.2011.10.001. Epub 2011 Oct 20.