Details of Disease

General Information of Disease (ID: DISJOZC5)

Disease Name Senior-Loken syndrome 7
Synonyms SLSN7; SENIOR-Loken syndrome 7; Senior-Loken syndrome caused by mutation in SDCCAG8; SDCCAG8 Senior-Loken syndrome; Senior-Loken syndrome type 7; Senior-Loken syndrome 7
Definition Any Senior-Loken syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene.
Disease Hierarchy
DISGBSGP: Senior-Loken syndrome
DISJOZC5: Senior-Loken syndrome 7
Disease Identifiers
MONDO ID
MONDO_0013326
UMLS CUI
C3150877
OMIM ID
613615
MedGen ID
462227

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]
SDCCAG8 OTV2ZGV9 Definitive Autosomal recessive [2]
------------------------------------------------------------------------------------

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 Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly. Ophthalmic Genet. 2012 Sep;33(3):150-4. doi: 10.3109/13816810.2012.689411. Epub 2012 May 24.