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Entry | Name | Description | Category | Pathway | Gene |
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H00104 | Alternative complement pathway component defects | The alternative pathway (AP) is antibody independent and relies on native C3 undergoing minimal spontaneous hydrolysis. Hydrolyzed C3 binds factor B. Factor B, when bound to hydrolyzed C3, is cleaved by ... | Primary immunodeficiency |
(CFBD) CFB [HSA:629] [KO:K01335] (CFDD) CFD [HSA:1675] [KO:K01334] (CFHD) CFH [HSA:3075] [KO:K04004] (CFPD) CFP [HSA:5199] [KO:K15412] |
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H00821 | Age-related macular degeneration | Macular degeneration is the physical breakdown of the central portion of the retina called the macula. Age-related macular degeneration (AMD/ARMD) is the leading cause of blindness. AMD is a complex disease ... | Nervous system disease |
(ARMD1) HMCN1 [HSA:83872] [KO:K17341] (ARMD1) CFHR1 [HSA:3078] [KO:K23815] (ARMD1) CFHR3 [HSA:10878] [KO:K23815] (ARMD2) ABCA4 [HSA:24] [KO:K05644] (ARMD3) FBLN5 [HSA:10516] [KO:K17340] (ARMD4) CFH [HSA:3075] [KO:K04004] (ARMD5) ERCC6 [HSA:2074] [KO:K10841] (ARMD6) RAX2 [HSA:84839] [KO:K09333] (ARMD7) HTRA1 [HSA:5654] [KO:K08784] (ARMD8) ARMS2 [HSA:387715] [KO:K25179] (ARMD9) C3 [HSA:718] [KO:K03990] (ARMD10) TLR4 [HSA:7099] [KO:K10160] (ARMD11) CST3 [HSA:1471] [KO:K13899] (ARMD12) CX3CR1 [HSA:1524] [KO:K04192] (ARMD13) CFI [HSA:3426] [KO:K01333] (ARMD14) C2 [HSA:717] [KO:K01332] (ARMD14) CFB [HSA:629] [KO:K01335] (ARMD15) C9 [HSA:735] [KO:K04000] |
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H00825 | Familial flecked retina syndrome | The flecked retina syndrome is characterized by multiple deep, yellow to yellowish white fundus lesions of variable size and shape in eyes without vascular or optic nerve disease. Originally this group ... | Nervous system disease |
(DHRD) EFEMP1 [HSA:2202] [KO:K18262] (BLD) CFH [HSA:3075] [KO:K04004] (FA) RDH5 [HSA:5959] [KO:K00061] (RPA) RLBP1 [HSA:6017] [KO:K19625] (RPA) RHO [HSA:6010] [KO:K04250] (BCD) CYP4V2 [HSA:285440] [KO:K07427] |
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H01434 | Atypical hemolytic uremic syndrome | The haemolytic uraemic syndrome (HUS) is characterized by the triad of thrombocytopenia, microangiopathic haemolytic anaemia and acute renal failure. HUS may be classified as either diarrhoeal-associated ... | Hematologic disease |
(AHUS1) CFH [HSA:3075] [KO:K04004] (AHUS1) CFHR3 [HSA:10878] [KO:K23815] (AHUS1) CFHR1 [HSA:3078] [KO:K23815] (AHUS2) CD46, MCP [HSA:4179] [KO:K04007] (AHUS3) CFI, IF [HSA:3426] [KO:K01333] (AHUS4) CFB [HSA:629] [KO:K01335] (AHUS5) C3 [HSA:718] [KO:K03990] (AHUS6) THBD [HSA:7056] [KO:K03907] |
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H01726 | Membranoproliferative glomerulonephritis | Membranoproliferative glomerulonephritis (MPGN) represents a pattern of glomerular injury, characterized by mesangial proliferation and expansion, lobularization of the glomerular tufts, and double contours ... | Immune system disease; Urinary system disease |
CFH [HSA:3075] [KO:K04004] CFHR5 [HSA:81494] [KO:K23817] DGKE [HSA:8526] [KO:K00901] |
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H02108 | Basal laminar drusen | ... stages, these drusen often become more numerous, with clustered groups of drusen scattered throughout the retina. It has been reported that a variant in CFH gene is strongly associated with this disease. | Nervous system disease | CFH [HSA:3075] [KO:K04004] | |
H02579 | C3 glomerulopathy | C3 glomerulopathy (C3G) describes a pathologic pattern of injury diagnosed by renal biopsy characterized by the dominant deposition of the third component of complement (C3) in the renal glomerulus. Autoantibodies ... | Immune system disease; Urinary system disease |
(C3G1) CFH [HSA:3075] [KO:K04004] (C3G2) CFI [HSA:3426] [KO:K01333] (C3G3) CFHR5 [HSA:81494] [KO:K23817] |
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