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| 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] |
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| H00233 |
MYH9-related disease Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) |
... which are caused by mutation of gene encoding nonmuscle myosin heavy chain 9, May-Hegglin anomaly , Fechtner syndrome(FTNS), and Sebastian syndrome , share the triad of thrombocytopenia, large platelets ... | Cardiovascular disease | MYH9 [HSA:4627] [KO:K10352] | |
| 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] |
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| H02053 | Fechtner syndrome | Fechtner syndrome is a rare autosomal dominant progressive nephropathy associated with macrothrombocytopenia. Sensorineural hearing loss can also occur. Fechtner syndrome shows the additional features ... | Cardiovascular disease | MYH9 [HSA:4627] [KO:K10352] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |