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Entry | Name | Description | Category | Pathway | Gene |
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H00535 | Lymphatic malformation | Lymphatic malformation (LMPHM), formerly known as hereditary lymphedema (LMPH), is a form of generalized lymphatic dysplasia characterized by chronic lesions of the extremities due to insufficient lymphatic ... | Congenital malformation |
(LMPHM1/LMPH1A) FLT4 [HSA:2324] [KO:K05097] (LMPHM3/LMPH1C) GJC2 [HSA:57165] [KO:K07619] (LMPHM4/LMPH1D) VEGFC [HSA:7424] [KO:K05449] (LMPHM6/LMPH3) PIEZO1 [HSA:9780] [KO:K22128] (LMPHM7) EPHB4 [HSA:2050] [KO:K05113] (LMPHM8) CALCRL [HSA:10203] [KO:K04577] (LMPHM9) CELSR1 [HSA:9620] [KO:K04600] (LMPHM10) ANGPT2 [HSA:285] [KO:K05466] (LMPHM11) TIE1 [HSA:7075] [KO:K05120] (LMPHM12) MDFIC [HSA:29969] [KO:K27688] (LMPHM13) THSD1 [HSA:55901] [KO:K24433] (LMPHM14) ERG [HSA:2078] [KO:K09435] |
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H02043 | Capillary malformation-arteriovenous malformation | Capillary malformation-arteriovenous malformation (CMAVM) is an autosomal dominant disorder associated with heterozygous mutations in RASA1. CM-AVM is with multiple CMs on the skin, sometimes in association ... | Congenital malformation |
(CMAVM1) RASA1 [HSA:5921] [KO:K04352] (CMAVM2) EPHB4 [HSA:2050] [KO:K05113] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |