Search Result |
Top |
| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00201 | Erythropoietic porphyria | Erythropoietic protoporphyria (EP) is an inborn error of heme biosynthesis porphyrin metabolism caused by deficiency of enzymes of porphyrin metabolism. Porphyrias are divided into erythropoietic and hepatic ... | Inherited metabolic disorder |
(EPP1) FECH [HSA:2235] [KO:K01772] (EPP2) CLPX [HSA:10845] [KO:K03544] (CEP) UROS [HSA:7390] [KO:K01719] (HEP) UROD [HSA:7389] [KO:K01599] (XLDPP) ALAS2 [HSA:212] [KO:K00643] |
|
| H00982 | Sideroblastic anemia | Sideroblastic anemias are a group of disorders characterized by anemia with the emergence of ring sideroblasts in the bone marrow. Inherited sideroblastic anemia is a rare and heterogeneous disease caused ... | Hematologic disease |
(SIDBA1) ALAS2 [HSA:212] [KO:K00643] (SIDBA2) SLC25A38 [HSA:54977] [KO:K15118] (SIDBA3) GLRX5 [HSA:51218] [KO:K07390] (SIDBA4) HSPA9 [HSA:3313] [KO:K04043] (SIDBA5) HSCB [HSA:150274] [KO:K04082] (ASAT) ABCB7 [HSA:22] [KO:K05662] |
|
| H01763 | Porphyria | Porphyria is an inborn error of heme biosynthesis porphyrin metabolism caused by deficiency of enzymes of porphyrin metabolism. The intermediates of this pathway (porphyrinogens, porphyrins and their precursors) ... | Inherited metabolic disorder |
(EPP1) FECH [HSA:2235] [KO:K01772] (EPP2) CLPX [HSA:10845] [KO:K03544] (CEP) UROS [HSA:7390] [KO:K01719] (HEP, PCT) UROD [HSA:7389] [KO:K01599] (ADP) ALAD [HSA:210] [KO:K01698] (AIP, ENCEP, LENCEP) HMBS [HSA:3145] [KO:K01749] (HCP) CPOX [HSA:1371] [KO:K00228] (VP) PPOX [HSA:5498] [KO:K00231] (XLDPP) ALAS2 [HSA:212] [KO:K00643] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |