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Entry | Name | Description | Category | Pathway | Gene |
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H01102 | Pituitary adenomas | Pituitary adenomas are an important and frequently occurring form of intracranial tumor. They are usually benign but can give rise to severe clinical syndromes due to hormonal excess, or to visual/cranial ... | Neoplasm |
(MEN1) MEN1 [HSA:4221] [KO:K14970] (MEN4) CDKN1B [HSA:1027] [KO:K06624] (CNC) PRKAR1A [HSA:5573] [KO:K04739] (PITA1) AIP [HSA:9049] [KO:K17767] (PITA2) GPR101 [HSA:83550] [KO:K08423] (PITA3) GNAS [HSA:2778] [KO:K04632] (PITA4) USP8 [HSA:9101] [KO:K11839] (PITA5) CDH23 [HSA:64072] [KO:K06813] RASD1 [HSA:51655] [KO:K07843] |
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H01431 | Cushing syndrome | Cushing syndrome (CS) is a rare disorder resulting from prolonged exposure to excess glucocorticoids via exogenous and endogenous sources. The typical clinical features of CS are related to hypercortisolism ... | Endocrine and metabolic disease | hsa04934 Cushing syndrome |
(MEN1) MEN1 [HSA:4221] [KO:K14970] (MEN4) CDKN1B [HSA:1027] [KO:K06624] (CNC1) PRKAR1A [HSA:5573] [KO:K04739] (PITA1) AIP [HSA:9049] [KO:K17767] (PITA2) GPR101 [HSA:83550] [KO:K08423] (PITA3) GNAS [HSA:2778] [KO:K04632] (PITA4) USP8 [HSA:9101] [KO:K11839] (PITA5) CDH23 [HSA:64072] [KO:K06813] (AIMAH2) ARMC5 [HSA:79798] [KO:K22499] (PPNAD1) PRKAR1A [HSA:5573] [KO:K04739] (PPNAD2) PDE11A [HSA:50940] [KO:K13298] (PPNAD3) PDE8B [HSA:8622] [KO:K18437] (PPNAD4) PRKACA [HSA:5566] [KO:K04345] RASD1 [HSA:51655] [KO:K07843] |
H01483 | Acromegaly | ... which is caused in 15-20% of cases by aryl hydrocarbon receptor interacting protein (AIP) gene germline mutations. Moreover, a recurrent mutation was found in GPR101 in some patients with non-familial ACM. | Endocrine and metabolic disease |
AIP [HSA:9049] [KO:K17767] GNAS [HSA:2778] [KO:K04632] GPR101 [HSA:83550] [KO:K08423] |
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H01618 | Pituitary gigantism | ... perspiration, coarsening of facial features, and headaches. It has been reported that duplication of GPR101 probably causes gigantism and acromegaly. Therapeutic modalities for the treatment of pituitary ... | Endocrine and metabolic disease | GPR101 (duplication) [HSA:83550] [KO:K08423] | |
H01864 | Excessive secretion of growth hormone | Excessive secretion of growth hormone (GH) causes acromegaly [DS:H01483] and pituitary gigantism [DS:H01618]. They have the same pathogenetic mechanism, but differ regarding the age of onset. Gigantism ... | Endocrine and metabolic disease |
AIP [HSA:9049] [KO:K17767] GPR101 [HSA:83550] [KO:K08423] |
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