Details of Disease

General Information of Disease (ID: DISAIHPT)

Disease Name Focal segmental glomerulosclerosis 2
Synonyms
glomerulosclerosis, focal segmental, 2; FSGS2; focal segmental glomerulosclerosis type 2; TRPC6 focal segmental glomerulosclerosis; focal segmental glomerulosclerosis caused by mutation in TRPC6; focal segmental glomerulosclerosis 2
Definition Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the TRPC6 gene.
Disease Hierarchy
DISCPRVI: Inherited focal segmental glomerulosclerosis
DISAIHPT: Focal segmental glomerulosclerosis 2
Disease Identifiers
MONDO ID
MONDO_0011390
UMLS CUI
C1858915
OMIM ID
603965
MedGen ID
349053

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
TRPC6 TTRBT3W Strong Autosomal dominant [1]
TRPC6 TTRBT3W Strong Genetic Variation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TRPC6 OT5J7HVM Strong Autosomal dominant [1]
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References

1 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.
2 TRPC6 G757D Loss-of-Function Mutation Associates with FSGS.J Am Soc Nephrol. 2016 Sep;27(9):2771-83. doi: 10.1681/ASN.2015030318. Epub 2016 Feb 18.