Details of Disease

General Information of Disease (ID: DISAQTI0)

Disease Name Senior-Loken syndrome 5
Synonyms SENIOR-Loken syndrome 5; SLSN5; Senior-Loken syndrome caused by mutation in IQCB1; Senior-Loken syndrome type 5; Senior-Loken syndrome 5; IQCB1 Senior-Loken syndrome
Definition Any Senior-Loken syndrome in which the cause of the disease is a mutation in the IQCB1 gene.
Disease Hierarchy
DISGBSGP: Senior-Loken syndrome
DISAQTI0: Senior-Loken syndrome 5
Disease Identifiers
MONDO ID
MONDO_0012225
MESH ID
C563763
UMLS CUI
C1836517
OMIM ID
609254
MedGen ID
332226

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TMEM218 OTM46L89 Strong Biomarker [1]
IQCB1 OTYQ28V9 Definitive Autosomal recessive [2]
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References

1 Nephronophthisis and retinal degeneration in tmem218-/- mice: a novel mouse model for Senior-L?ken syndrome?. Vet Pathol. 2015 May;52(3):580-95. doi: 10.1177/0300985814547392. Epub 2014 Aug 26.
2 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.