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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00155 |
Familial hypercholesterolemia Autosomal dominant hypercholesterolaemia |
... lipoprotein receptor. Other forms of this disorder include hypercholesterolemia caused by mutation of APOB or PCSK9 gene. This disorder is characterized by severely elevated plasma LDL cholesterol, tuberous ... | Inherited metabolic disorder |
(FHCL1) LDLR [HSA:3949] [KO:K12473] (FHCL1) EPHX2 [HSA:2053] [KO:K08726] (FHCL1) GHR [HSA:2690] [KO:K05080] (FHCL1) PPP1R17 [HSA:10842] [KO:K08067] (FHCL1) APOA2 [HSA:336] [KO:K08758] (FHCL2) APOB [HSA:338] [KO:K14462] (FHCL3) PCSK9 [HSA:255738] [KO:K13050] (FHCL4) LDLRAP1 [HSA:26119] [KO:K12474] |
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| H01270 | Familial hypobetalipoproteinemia | ... levels of plasma apolipoprotein B and LDL cholesterol. Mutations in the gene encoding apolipoprotein B (APOB) have been found in FHBL. It has been identified that mutations in ANGPTL3 also cause this disease | Inherited metabolic disorder |
(FHBL1) APOB [HSA:338] [KO:K14462] (FHBL2) ANGPTL3 [HSA:27329] [KO:K22288] |
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| H02505 | Atherosclerosis | Atherosclerosis is a chronic inflammatory disease marked by a narrowing of the arteries from lipid-rich plaques present within the walls of arterial blood vessels. It represents the root cause of the majority ... | Cardiovascular disease | hsa05417 Lipid and atherosclerosis |
LDLR [HSA:3949] [KO:K12473] APOB [HSA:338] [KO:K14462] PCSK9 [HSA:255738] [KO:K13050] LDLRAP1 [HSA:26119] [KO:K12474] ABCG5 [HSA:64240] [KO:K05683] ABCG8 [HSA:64241] [KO:K05684] LCAT [HSA:3931] [KO:K00650] ABCA1 [HSA:19] [KO:K05641] APOA1 [HSA:335] [KO:K08757] MEF2A [HSA:4205] [KO:K09260] LRP6 [HSA:4040] [KO:K03068] |
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