Focal segmental glomerulosclerosis 2; FSGS2

Disease ID:378
Name:Focal segmental glomerulosclerosis 2; FSGS2
Associated with:1 targets
0 immuno-relevant targets
0 immuno-relevant ligands
Synonyms
Focal segmental glomerulosclerosis
Database Links
Disease Ontology: DOID:1312
OMIM: 603965
Orphanet: ORPHA93213

Targets

TRPC6
References:  2-3
Mutations:  TRPC6 is associated with 5 mutation. Click here for details

Ligands

No ligand related data available for Focal segmental glomerulosclerosis 2; FSGS2

References

Show »

1. Heeringa SF, Möller CC, Du J, Yue L, Hinkes B, Chernin G, Vlangos CN, Hoyer PF, Reiser J, Hildebrandt F. (2009) A novel TRPC6 mutation that causes childhood FSGS. PLoS ONE, 4 (11): e7771. [PMID:19936226]

2. Reiser J, Polu KR, Moller CC, Kenlan P, Altintas MM, Wei C, Faul C, Herbert S, Villegas I, Avila-Casado C, McGee M, Sugimoto H, Brown D, Kalluri R, Mundel P, Smith PL, Clapham DE, Pollak MR. (2005) TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function. Nat. Genet., 37 (7): 739-44. [PMID:15924139]

3. Winn MP, Conlon PJ, Lynn KL, Farrington MK, Creazzo T, Hawkins AF, Daskalakis N, Kwan SY, Ebersviller S, Burchette JL, Pericak-Vance MA, Howell DN, Vance JM, Rosenberg PB. (2005) A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. Science, 308 (5729): 1801-4. [PMID:15879175]