Acromegaly

Disease ID:27
Name:Acromegaly
Associated with:1 targets
0 immuno-relevant targets
0 immuno-relevant ligands
Database Links
Disease Ontology: DOID:2449
OMIM: 102200
Orphanet: ORPHA963

Targets

SST5 receptor
Comments:  A point mutation of the sst5 caused activation of the MAPK cascade. The result was an acromegalic patient resistant to somatostatin treatment. The replacement of Arg240 with Trp within the 3rd cytoplasmic loop altered G-protein coupling, changing an inhibitory signal (to MAPK) into a stimulatory one.
References:  1
Mutations:  SST5 receptor is associated with 1 mutation. Click here for details

Ligands

No ligand related data available for Acromegaly

References

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1. Ballare E, Persani L, Lania AG, Filopanti M, Giammona E, Corbetta S, Mantovani S, Arosio M, Beck-Peccoz P, Faglia G, Spada A. (2001) Mutation of somatostatin receptor type 5 in an acromegalic patient resistant to somatostatin analog treatment. J Clin Endocrinol Metab, 86: 3809-3814. [PMID:11502816]