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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00075 |
Refsum disease Heredopathia atactica polyneuritiformis |
... cases present in adolescence. Because the patients are unable to metabolize phytanic acid derived from exogenous sources, highly raised plasma phytanic acid (PA) level in tissues and body fluids is the hallmark ... | Inherited metabolic disorder, Peroxisomal disease |
PHYH [HSA:5264] [KO:K00477] PEX7 [HSA:5191] [KO:K13341] |
|
| H00101 | Other phagocyte defects | ... G6PD deficiency are neonatal jaundice, and acute haemolytic anaemia, which is usually triggered by an exogenous agent. Shwachman-Diamond syndrome (SDS) is a rare autosomal-recessive, multisystem disease ... | Primary immunodeficiency | ||
| H00217 | Pulmonary alveolar proteinosis | ... Whole-lung lavage is the most widely accepted therapy for symptomatic PAP. Recent data suggest that exogenous GM-CSF therapy has potential in the treatment of autoimmune PAP. Congenital PAP is also known ... | Respiratory system disease | ||
| H01124 | Pyridoxamine-5'-phosphate oxidase (PNPO) deficiency | ... Patients with this deficiency have very low concentrations of pyridoxal 5'-phosphate (PLP), leaving exogenous pyridoxal/PLP as the only source of the active cofactor. Clinically, this disease presents ... | Nervous system disease | PNPO [HSA:55163] [KO:K00275] | |
| H01375 | Glucose 6-phosphate dehydrogenase deficiency | ... manifestations are neonatal jaundice and acute haemolytic anaemia, which in most patients is triggered by an exogenous agent. A G6PD-deficient patient lacks the ability to protect red blood cells against oxidative ... | Inherited metabolic disorder | G6PD [HSA:2539] [KO:K00036] | |
| 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] |
| H01645 |
Hyperthyroidism Thyrotoxicosis |
... into the circulation. Drug-induced thyrotoxicosis has the same pathogenic mechanism as thyroiditis. Exogenous thyrotoxicosis develops after ingestion of excessive amounts of thyroid hormone, and is associated ... | Endocrine and metabolic disease | ||
| H01699 | Isolated TSH deficiency | ... show symptoms of severe mental and growth retardation that can be prevented by early administration of exogenous thyroid hormone. Levothyroxine replacement therapy is the treatment of choice. Concomitant ... | Endocrine and metabolic disease | TSHB [HSA:7252] [KO:K05251] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |