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Entry Name Description Category Pathway Gene
H00033 Adrenal carcinoma Adrenocortical carcinoma (ACC) is a rare endocrine malignancy defined by a heterogeneous clinical presentation, dismal prognosis, and lack of effective therapeutic regimens. The incidence of ACC ranges ... Cancer ACTH-R (deletion) [HSA:4158] [KO:K04200]
GNAI2 (mutation) [HSA:2771] [KO:K04630]
N-ras (mutation) [HSA:4893] [KO:K07828]
IGF II (overexpression) [HSA:3481] [KO:K13769]
p53 (LOH, mutation) [HSA:7157] [KO:K04451]
p16/INK4A (LOH, low expression) [HSA:1028] [KO:K09993]
MEN1 (LOH, mutation) [HSA:4221] [KO:K14970]
H00034 Carcinoid ... multiple endocrine neoplasia (MEN) syndrome, a rare familiar tumor syndrome in which mutations in the MEN1 gene are manifested. Recently, it has been shown that a majority (78%) of sporadic carcinoids display ... Cancer MEN1 (mutation, LOH) [HSA:4221] [KO:K14970]
SDHD (germline mutation, LOH) [HSA:6392] [KO:K00237]
H00045 Pancreatic neuroendocrine tumor ... sporadically or in association with a genetic syndrome, such as multiple endocrine neoplasia type 1 (MEN1), Von Hippel-Landau (VHL) syndrome, neurofibromatosis type 1, or tuberous sclerosis. The most frequent ... Cancer MEN1 [HSA:4221] [KO:K14970]
DAXX [HSA:1616] [KO:K02308]
ATRX [HSA:546] [KO:K10779]
H00246 Primary hyperparathyroidism
Familial hyperparathyroidism 		... caused by mutation in the HRPT2 (CDC73 or Parafibromin) gene that also causes the hyperparathyroidism-jaw tumor syndrome. Sporadic cases are also known to occur with somatic mutations within the MEN1 gene. Endocrine and metabolic disease (HRPT1/2) CDC73 [HSA:79577] [KO:K15175]
(NSHPT) CASR [HSA:846] [KO:K04612]
(HRPT4) GCM2 [HSA:9247] [KO:K21598]
MEN1 [HSA:4221] [KO:K14970]
H00247 Multiple endocrine neoplasia syndrome
Wermer syndrome
Sipple syndrome 		... occurrence of tumors involving two or more endocrine glands. Four major forms of MEN are recognized, namely MEN1, MEN2A, MEN2B and MEN4. MEN1, which is also referred as Wermer's syndrome, is characterized by parathyroid ... Cancer (MEN1) MEN1 [HSA:4221] [KO:K14970]
(MEN2A MEN2B) RET [HSA:5979] [KO:K05126]
(MEN4) CDKN1B [HSA:1027] [KO:K06624]
H00649 Ectodermal dysplasia, hair-nail type Ectodermal dysplasia (ECTD), hair-nail type is a rare condition involving only tissues of ectodermal origin. Patients show complete alopecia and primitive nails. Autosomal recessive type has previously ... Congenital malformation (ECTD4) KRT85 [HSA:3891] [KO:K07605]
(ECTD7) KRT74 [HSA:121391] [KO:K07605]
(ECTD9) HOXC13 [HSA:3229] [KO:K09298]
(ECTD10A/10B) EDAR [HSA:10913] [KO:K05162]
(ECTD13) KREMEN1 [HSA:83999] [KO:K23091]
H01102 Pituitary adenomas ... sporadically, although a subset occurs as component tumors of well-characterized familial cancer syndromes, such as multiple endocrine neoplasia type 1 (MEN1), Carney complex (CNC), and MEN1-like syndrome (MEN4). 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]
H01431 Cushing syndrome ... protease 8 gene (USP8) were identified in almost half of corticotroph adenoma. Germline mutations in MEN1 (encoding menin), AIP (encoding aryl-hydrocarbon receptor-interacting protein), PRKAR1A (encoding ... 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]
H01522 Zollinger-Ellison syndrome ... over 20 percent are caused by an inherited genetic disorder called multiple endocrine neoplasia type 1 (MEN1) [DS:H00247]. The clinical presentation is not specific for this disease and there is overlap of ... Endocrine and metabolic disease MEN1 [HSA:4221] [KO:K14970]
H01618 Pituitary gigantism ... is exceptional but occasionally occurs in patients with multiple endocrine neoplasia syndrome type 1 (MEN1), Carney complex, or McCune-Albright syndrome. The clinical manifestations may include increased ... Endocrine and metabolic disease GPR101 (duplication) [HSA:83550] [KO:K08423]
H01667 Medulloblastoma Medulloblastoma is the most common embryonal CNS tumor of childhood and is likely composed of biologically different subsets of tumors arising from stem and/or progenitor cells of the cerebellum. Recently ... Cancer PTCH1 [HSA:5727] [KO:K06225]
PTCH2 [HSA:8643] [KO:K11101]
ELP1 [HSA:8518] [KO:K11373]
SUFU [HSA:51684] [KO:K06229]
SMO [HSA:6608] [KO:K06226]
AXIN1 [HSA:8312] [KO:K02157]
AXIN2 [HSA:8313] [KO:K04385]
APC [HSA:324 10297] [KO:K02085]
CTNNB1 [HSA:1499] [KO:K02105]
TP53 [HSA:7157] [KO:K04451]
NF2 [HSA:4771] [KO:K16684]
MEN1 [HSA:4221] [KO:K14970]
KDM6A [HSA:7403] [KO:K11447]
MYC (amplification) [HSA:4609] [KO:K04377]
OTX2 (amplification) [HSA:5015] [KO:K18490]
TERT (amplification) [HSA:7015] [KO:K11126]
MDM2 (amplification) [HSA:4193] [KO:K06643]
H02049 Bilateral macronodular adrenal hyperplasia ... causing a hereditary familial tumor syndrome including adenomatous polyposis coli gene (APC), menin (MEN1) and fumarate hydratase (FH) can favor or be responsible for the development of BMAH. Recently, ... 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]
1 to 12 of 12
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