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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00533 |
Hereditary hemorrhagic telangiectasia Osler disease |
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler disease, is an autosomal dominant vascular dysplasia characterized by severe recurrent nasal and gastrointestinal bleeding and cutaneomucosal ... | Congenital malformation |
(HHT1) ENG [HSA:2022] [KO:K06526] (HHT2) ACVRL1 [HSA:94] [KO:K13594] (HHT5) GDF2 [HSA:2658] [KO:K05503] (JPHT) SMAD4 [HSA:4089] [KO:K04501] |
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| H01621 | Pulmonary arterial hypertension | ... member of the transforming growth factor [TGF]-beta family). Pathogenic mutations in the type I receptor ACVRL1 and, at a significantly lower frequency, the type III receptor endoglin in multiple kindreds cause ... | Cardiovascular disease |
(PPH1) BMPR2 [HSA:659] [KO:K04671] (PPH2) SMAD9 [HSA:4093] [KO:K16791] (PPH3) CAV1 [HSA:857] [KO:K06278] (PPH4) KCNK3 [HSA:3777] [KO:K04914] (PPH5) ATP13A3 [HSA:79572] [KO:K14951] (PPH6) CAPNS1 [HSA:826] [KO:K08583] (HHT2) ACVRL1 [HSA:94] [KO:K13594] (PVOD2) EIF2AK4 [HSA:440275] [KO:K16196] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |