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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00102 | Classic complement pathway component defects | Complement disorders account for only 2 percent of all primary immunodeficiency disorders. They result from the disruption of one of the proteins involved in the classic or nonclassic activation pathways ... | Primary immunodeficiency |
(C1QD1) C1QA [HSA:712] [KO:K03986] (C1QD2) C1QB [HSA:713] [KO:K03987] (C1QD3) C1QC [HSA:714] [KO:K03988] (C1SD) C1S [HSA:716] [KO:K01331] (C2D) C2 [HSA:717] [KO:K01332] (C3D) C3 [HSA:718] [KO:K03990] (C4AD) C4A [HSA:720] [KO:K03989] (C4BD) C4B [HSA:721] [KO:K03989] |
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| H00166 | Hermansky-Pudlak syndrome | Hermansky-Pudlak syndrome (HPS) is a group of autosomal recessive disorders caused by defects in lysosome-related organelles and characterized by albinism and prolonged bleeding. | Inherited metabolic disorder |
(HPS1) HPS1 [HSA:3257] [KO:K20193] (HPS2) AP3B1 [HSA:8546] [KO:K12397] (HPS3) HPS3 [HSA:84343] [KO:K20190] (HPS4) HPS4 [HSA:89781] [KO:K20194] (HPS5) HPS5 [HSA:11234] [KO:K20191] (HPS6) HPS6 [HSA:79803] [KO:K20192] (HPS7) DTNBP1 [HSA:84062] [KO:K20189] (HPS8) BLOC1S3 [HSA:388552] [KO:K20186] (HPS9) BLOC1S6 [HSA:26258] [KO:K20188] (HPS10) AP3D1 [HSA:8943] [KO:K12396] (HPS11) BLOC1S5 [HSA:63915] [KO:K20187] |
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| H02240 | Ehlers-Danlos syndrome periodontal type | ... early-onset periodontitis leading to premature loss of teeth, joint hypermobility, and mild skin findings. EDSPD is caused by mutations in C1R and C1S, which encode subcomponents C1r and C1s of complement. | Congenital malformation |
(EDSPD1) C1R [HSA:715] [KO:K01330] (EDSPD2) C1S [HSA:716] [KO:K01331] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |