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Entry Name Description Category Pathway Gene
H00033 Adrenal carcinoma ... rearrangements of the chromosomal locus 11p15.5 associated with IGF II hyperexpression. Deletions of the ACTH receptor gene have recently been found in undifferentiated adenomas and in aggressive ACCs. 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]
H00182 Cystathioninuria Hereditary cystathioninuria is caused by deficiency of the activity of cystathionine gamma-lyase, which is normally required for the conversion of methionine into cysteine. Patients with cystathioninuria ... Inherited metabolic disorder CTH [HSA:1491] [KO:K01758]
H00256 Familial glucocorticoid deficiency ... autosomal recessive disease characterized by glucocorticoid deficiency despite high levels of plasma ACTH. Affected individuals typically present within the first few months of life with symptoms related ... Endocrine and metabolic disease (FGD1) MC2R [HSA:4158] [KO:K04200]
(FGD2) MRAP [HSA:56246] [KO:K22398]
(FGD4) NNT [HSA:23530] [KO:K00323]
(FGD5) TXNRD2 [HSA:10587] [KO:K22182]
H00260 Pigmented micronodular adrenocortical disease Primary pigmented micronodular adrenocortical disease (PPNAD) is a form of ACTH-independent adrenal hyperplasia resulting in endogenous Cushing's syndrome. Endocrine and metabolic disease (PPNAD1) PRKAR1A [HSA:5573] [KO:K04739]
(PPNAD2) PDE11A [HSA:50940] [KO:K13298]
(PPNAD3) PDE8B [HSA:8622] [KO:K18437]
H00602 Glucocorticoid-remediable aldosteronism (GRA)
Familial hyperaldosteronism type I
... cortisol-secreting zona fasciculata of the adrenal gland under the control of adrenocorticotropin (ACTH). The high levels of mineralocorticoids activate the mineralocorticoid receptor (MR) and upregulate ... Endocrine and metabolic disease CYP11B1 [HSA:1584] [KO:K00497]
CYP11B2 [HSA:1585] [KO:K07433]
H01011 Adrenocorticotropic hormone deficiency
Isolated ACDH deficiency
Isolated adrenocorticotropic hormone deficiency (IAD) is a rare disease characterized by low plasma ACTH and cortisol levels and preservation of all other pituitary hormones, that may be an underestimated ... Endocrine and metabolic disease TBX19 [HSA:9095] [KO:K10184]
H01431 Cushing syndrome ... complications, and mood changes. Traditionally, endogenous CS is classified as adrenocorticotropic hormone (ACTH)-dependent (about 80%) or ACTH- independent (about 20%). Among ACTH-dependent forms, pituitary corticotroph ... 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]
H01460 West syndrome
Infantile spasms
... disorders, and genetic syndromes such as Down's syndrome. The treatment options are hormonal therapy (adrenocorticotropic hormone ACTH, glucocorticosteroids) or the GABA aminotransferase inhibitor vigabatrin. Nervous system disease ARX [HSA:170302] [KO:K09452]
H01700 Hypopituitarism ... hormone (FSH) and luteinizing hormone (LH), thyroid stimulating hormone (TSH) and corticotropin hormone (ACTH). Clinical manifestations of hypopituitarism are variable, often insidious in onset and dependent ... Endocrine and metabolic disease GHRH [HSA:2691] [KO:K05260]
TRH receptor [HSA:7201] [KO:K04282]
H01740 Macrothrombocytopenia Macrothrombocytopenia (MTP) is a heterogeneous group of disorders characterized by enlarged and reduced numbers of circulating platelets, sometimes resulting in abnormal bleeding. The clinical presentations ... Hematologic disease (MATINS) MYH9 [HSA:4627] [KO:K10352]
(BSS) GP1BA [HSA:2811] [KO:K06261]
(BSS) GP1BB [HSA:2812] [KO:K06262]
(BSS) GP9 [HSA:2815] [KO:K06263]
(BDPLT15) ACTN1 [HSA:87] [KO:K05699]
(BDPLT16) ITGA2B [HSA:3674] [KO:K06476]
(BDPLT19) PRKACG [HSA:5568] [KO:K04345]
(BDPLT24) ITGB3 [HSA:3690] [KO:K06493]
(STSL1) ABCG8 [HSA:64241] [KO:K05684]
(STSL2) ABCG5 [HSA:64240] [KO:K05683]
(MACTHC1) TUBB1 [HSA:81027] [KO:K07375]
(MACTHC2) TUBA8 [HSA:51807] [KO:K07374]
GATA1 [HSA:2623] [KO:K09182]
VWF [HSA:7450] [KO:K03900]
DIAPH1 [HSA:1729] [KO:K05740]
H01820 Carney complex ... adenomas and osteochondromyxomas. Most CNC patients initially present with adrenocorticotropic hormone (ACTH)-independent Cushing's syndrome due to PPNAD or heart myxomas. Skin lesions are the most common CNC ... Endocrine and metabolic disease (CNC/CM) PRKAR1A [HSA:5573] [KO:K04739]
(variant) MYH8 [HSA:4626] [KO:K24220]
H01901 Barrett esophagus ... with BE, is represented by nitrate, an increased age, Caucasian race, male sex and hiatal hernia. Recently, it has been reported that mutations in MSR1, ASCC1, and CTHRC1 are associated with this disease. Digestive system disease MSR1 [HSA:4481] [KO:K06558]
CTHRC1 [HSA:115908] [KO:K25700]
ASCC1 [HSA:51008] [KO:K18666]
H02354 Orf
Contagious pustular dermatitis
Contagious ecthyma
Orf is a highly contagious zoonotic infectious disease caused by orf virus, a parapoxvirus in the Poxviridae family of dsDNA viruses. Orf virus is transmitted to humans by direct or indirect contact with ... Viral infectious disease
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