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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00244 | Pseudohypoparathyroidism | Pseudohypoparathyroidism refers to a heterogeneous group of autosomal dominant disorders characterized by hypocalcemia and hyperphosphatemia due to resistance to parathyroid hormone. The disease phenotype ... | Endocrine and metabolic disease |
(PHP1A/1B/1C) GNAS [HSA:2778] [KO:K04632] (PHP1B) STX16 [HSA:8675] [KO:K08489] (PHP1B) GNAS-AS1 [HSA:149775] |
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| H00441 | Progressive osseous heteroplasia | Progressive osseous heteroplasia (POH) is a genetic disorder where heterozygous inactivating mutations in the GNAS gene have been identified. Patients with POH characteristically develop extensive bone formation ... | Musculoskeletal disease | GNAS [HSA:2778] [KO:K04632] | |
| H00501 |
Fibrous dysplasia, polyostotic McCune-Albright syndrome Albright hereditary osteodystrophy |
... condition of subcutaneous ossification associated with short stature, round face and brachydactyly. Mosaic GNAS mutations that results in abnormal differentiation of osteoblastic cells are responsible for the ... | Congenital malformation | GNAS [HSA:2778] [KO:K04632] | |
| 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 | ... associated with other endocrine abnormalities or as an isolated disorder. Somatic activating mutations in the GNAS gene, which encodes for the Gs-alpha subunit of G-proteins, are found in up to 40% of sporadic GH-secreting ... | Endocrine and metabolic disease |
AIP [HSA:9049] [KO:K17767] GNAS [HSA:2778] [KO:K04632] GPR101 [HSA:83550] [KO:K08423] |
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| H02049 | Bilateral macronodular adrenal hyperplasia | Bilateral macronodular adrenal hyperplasia (BMAH) is an adrenal disorder characterized by bilateral benign adrenocortical nodules associated with variable levels of cortisol excess. BMAH is an adrenal ... | Endocrine and metabolic disease |
ARMC5 [HSA:79798] [KO:K22499] MEN1 [HSA:4221] [KO:K14970] FH [HSA:2271] [KO:K01679] PDE11A [HSA:50940] [KO:K13298] GNAS1 [HSA:2778] [KO:K04632] APC [HSA:324] [KO:K02085] MC2R [HSA:4158] [KO:K04200] PRKACA [HSA:5566] [KO:K04345] |
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