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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00155 |
Familial hypercholesterolemia Autosomal dominant hypercholesterolaemia |
Familial hypercholesterolaemia (FHCL) is an autosomal dominant disorder caused by deficiency of low density lipoprotein receptor. Other forms of this disorder include hypercholesterolemia caused by mutation ... | 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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| H01204 | Cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome (CAMRQ) | Cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome (CAMRQ) is autosomal recessive, genetically heterogeneous conditions characterized by early onset of cerebellar ataxia and MR. Patients ... | Nervous system disease |
(CAMRQ1) VLDLR [HSA:7436] [KO:K20053] (CAMRQ2) WDR81 [HSA:124997] [KO:K17601] (CAMRQ3) CA8 [HSA:767] [KO:K01672] (CAMRQ4) ATP8A2 [HSA:51761] [KO:K14802] |
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| H01383 |
Hyperlipoproteinemia type IIa LDL receptor disorder |
... functional domains such as signal sequence, ligand binding, and so on. There are more than 1600 mutations in the LDLR gene that can cause familial hypercholesterolemia, accounting for up to 95% of all cases. | Inherited metabolic disorder | LDLR [HSA:3949] [KO:K12473] | |
| H01635 | Hyperlipidemia | Dyslipidemia is a condition characterized by either an increase or decrease in concentration of lipids in the blood. Hyperlipidemia, which refers to an increase in cholesterol, triglyceride (TG), or both ... | Endocrine and metabolic disease |
(Hyperlipoproteinemia type 1) APOC2 [HSA:344] [KO:K22287] (Hyperlipoproteinemia type 1,2) LPL [HSA:4023] [KO:K01059] (Hyperlipoproteinemia type 2) LDLR [HSA:3949] [KO:K12473] (Hyperlipoproteinemia type 5) APOA5 [HSA:116519] [KO:K09025] |
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| H01918 | Familial autosomal recessive hypercholesterolemia | ... large and bulky. In 2001, ARH was found to be caused by mutations in the LDL receptor adaptor protein 1 (LDLRAP1). In ARH, the internalization of the ligand-receptor complex cannot occur and all the LDL receptors ... | Inherited metabolic disorder | LDLRAP1 [HSA:26119] [KO:K12474] | |
| 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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