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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00232 | Hereditary stomatocytosis | Hereditary stomatocytosis (HSt) describes a group of hemolytic anemias with mouth-shaped red blood cells which fail to transport monovalent cations, such as sodium and potassium. | Hematologic disease |
(OHST) RHAG [HSA:6005] [KO:K06580] (DHS1) PIEZO1 [HSA:9780] [KO:K22128] (DHS2) KCNN4 [HSA:3783] [KO:K04945] (PSHK2) ABCB6 [HSA:10058] [KO:K05661] (CHC) SLC4A1 [HSA:6521] [KO:K06573] (SDCHCN) SLC2A1 [HSA:6513] [KO:K07299] |
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| H00691 |
Bullous congenital ichthyosiform erythroderma (BCIE) Epidermolytic hyperkeratosis (EHK) |
Bullous congenital ichthyosiform erythroderma (BCIE), also known as epidermolytic hyperkeratosis (EHK), is characterized by erythema and skin blistering of the newborn. The erythema is replaced with thick ... | Congenital malformation |
(EHK1) KRT1 [HSA:3848] [KO:K07605] (EHK2A/2B) KRT10 [HSA:3858] [KO:K07604] |
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| H02001 | Familial pseudohyperkalemia | Familial pseudohyperkalaemia (PSHK) is an autosomal dominant red cell trait characterized by increased serum potassium in whole blood stored at or below room temperature, as a result of a temperature-based ... | Hematologic disease |
(PSHK1) PIEZO1 [HSA:9780] [KO:K22128] (PSHK2) ABCB6 [HSA:10058] [KO:K05661] |
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| H02650 | Menke-Hennekam syndrome | Menke-Hennekam syndrome (MKHK) is a novel syndrome caused by mutations in CREBBP and EP300. Although mutations in the same genes cause Rubinstein-Taybi syndrome [DS:H00504], MKHK patients didn't show the ... | Congenital malformation |
(MKHK1) CREBBP [HSA:1387] [KO:K04498] (MKHK2) EP300 [HSA:2033] [KO:K04498] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |