Hypercholesterolemia

Symptom Information:

Symptom ID: HPO:0003124
Synonyms:
Elevated serum cholesterol [HPO:0003124]
Elevated total cholesterol [HPO:0003124]
Increased total cholesterol [HPO:0003124]
Hypercholesterolemia (disorder) [Orphanet:49480]
Serum cholesterol raised (finding) [Orphanet:49480]
Hypercholesterolemia [Orphanet:49480]
Hypercholesterolemia result [Orphanet:49480]
Serum cholesterol raised [Orphanet:49480]
Elevated serum cholesterol [OMIM:Elevated serum cholesterol]
Elevated total cholesterol [OMIM:Elevated total cholesterol]
Hypercholesterolemia [OMIM:Hypercholesterolemia]
Increased total cholesterol [OMIM:Increased total cholesterol]
Hyperlipidemia/hypercholesterolemia/hypertriglyceridemia [Orphanet:49480]
Cholesterol total increased [Orphanet:49480]
Serum cholesterol increased [Orphanet:49480]
Hypercholesterolaemia [Orphanet:49480]
High cholesterol [Orphanet:49480]
Blood cholesterol increased [MedDRA:10005425]
Cholesterol blood excessive [MedDRA:10005425]
Cholesterol blood increased [MedDRA:10005425]
Cholesterol high [MedDRA:10005425]
Cholesterol levels raised [MedDRA:10005425]
Cholesterol serum elevated [MedDRA:10005425]
Cholesterol serum increased [MedDRA:10005425]
Cholesterol total increased [MedDRA:10005425]
High cholesterol [MedDRA:10005425]
Plasma cholesterol increased [MedDRA:10005425]
Serum cholesterol increased [MedDRA:10005425]
Hypercholesterolaemia [MedDRA:10020603]
Hypercholesteremia [MedDRA:10020603]
Hypercholesterolemia [MedDRA:10020603]
Pure hypercholesterolaemia [MedDRA:10020603]
Pure hypercholesterolemia [MedDRA:10020603]
Hypercholesterolaemia aggravated [MedDRA:10020603]
Hypercholesterolemia aggravated [MedDRA:10020603]
Hypercholesteraemia [MedDRA:10020603]
Hyper LDL cholesterolaemia [MedDRA:10020603]
Hyper LDL cholesterolemia [MedDRA:10020603]
Borderline hypercholesterolemia [MedDRA:10020603]
Borderline hypercholesterolaemia [MedDRA:10020603]
Hypercholesterolemia (elevated plasma cholesterol) [OMIM:Hypercholesterolemia (elevated plasma cholesterol)]
Hypercholesterolemia (in 75%) [OMIM:Hypercholesterolemia (in 75%)]
Hypercholesterolemia (reported in 2 patients) [OMIM:Hypercholesterolemia (reported in 2 patients)]
Increased plasma cholesterol [OMIM:Increased plasma cholesterol]
Increased serum cholesterol [OMIM:Increased serum cholesterol]
Increased serum cholesterol (in 3 of 10 patients) [OMIM:Increased serum cholesterol (in 3 of 10 patients)]
Quality:
Cross references:
Orphanet:49480 "Hyperlipidemia/hypercholesterolemia/hypertriglyceridemia" [Orphanet:49480]
OMIM: "Elevated serum cholesterol" [OMIM:Elevated serum cholesterol]
OMIM: "Elevated total cholesterol" [OMIM:Elevated total cholesterol]
OMIM: "Hypercholesterolemia" [OMIM:Hypercholesterolemia]
OMIM: "Increased total cholesterol" [OMIM:Increased total cholesterol]
OMIM: "Hypercholesterolemia (elevated plasma cholesterol)" [OMIM:Hypercholesterolemia (elevated plasma cholesterol)]
OMIM: "Hypercholesterolemia (in 75%)" [OMIM:Hypercholesterolemia (in 75%)]
OMIM: "Hypercholesterolemia (reported in 2 patients)" [OMIM:Hypercholesterolemia (reported in 2 patients)]
OMIM: "Increased plasma cholesterol" [OMIM:Increased plasma cholesterol]
OMIM: "Increased serum cholesterol" [OMIM:Increased serum cholesterol]
OMIM: "Increased serum cholesterol (in 3 of 10 patients)" [OMIM:Increased serum cholesterol (in 3 of 10 patients)]
UMLS:C1522133 "Hypercholesterolemia" [HPO:0003124]
UMLS:C0020443 "Hypercholesterolemia" [Orphanet:49480]
UMLS:C1522133 "Hypercholesterolemia result" [Orphanet:49480]
UMLS:C0595929 "Serum cholesterol raised" [Orphanet:49480]
Is a (Direct Parents):
MedDRA Elevated cholesterol
Orphanet Abnormality of lipid metabolism
Orphanet Hypertriglyceridemia
HPO         Abnormality of cholesterol metabolism
MedDRA Cholesterol analyses
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of metabolism/homeostasis(HPO:0001939)
          Abnormality of lipid metabolism(HPO:0003119)
             Abnormality of cholesterol metabolism(HPO:0003107)
                Hypercholesterolemia(HPO:0003124)
MedDRA:
Metabolism and nutrition disorders(MedDRA:10027433)
    Abnormality of lipid metabolism(HPO:0003119)
       Elevated cholesterol(MedDRA:10014476)
          Hypercholesterolemia(HPO:0003124)
Investigations(MedDRA:10022891)
    Lipid analyses(MedDRA:10024580)
       Cholesterol analyses(MedDRA:10008651)
          Hypercholesterolemia(HPO:0003124)
Congenital, familial and genetic disorders(MedDRA:10010331)
    Metabolic and nutritional disorders congenital(MedDRA:10027424)
       Abnormality of lipid metabolism(HPO:0003119)
          Elevated cholesterol(MedDRA:10014476)
             Hypercholesterolemia(HPO:0003124)
Database Frequency: 53 / 7739
Resource:

All diseases associated with this symptom:

ABDOMINAL OBESITY-METABOLIC SYNDROME 3 (OMIM:615812)
APOLIPOPROTEIN E (OMIM:107741)
Alagille syndrome due to 20p12 microdeletion (Orphanet:261600)
Alagille syndrome due to a JAG1 point mutation (Orphanet:261619)
Alström syndrome (Orphanet:64)
Ataxia - oculomotor apraxia type 1 (Orphanet:1168)
Ataxia with vitamin E deficiency (Orphanet:96)
Bardet-Biedl syndrome 1 (OMIM:209900 )
Bardet-Biedl syndrome 10 (OMIM:615987)
Bardet-Biedl syndrome 2 (OMIM:615981)
Bardet-Biedl syndrome 7 (OMIM:615984)
Berardinelli-Seip congenital lipodystrophy (Orphanet:528)
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:608320)
Cholesteryl ester storage disease (Orphanet:75234)
Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis (Orphanet:94062)
Cushing syndrome (Orphanet:553)
Familial LCAT deficiency (Orphanet:79293)
Familial lipoprotein lipase deficiency (Orphanet:309015)
Familial partial lipodystrophy associated with PPARG mutations (Orphanet:79083)
Familial partial lipodystrophy due to AKT2 mutations (Orphanet:79085)
Familial partial lipodystrophy, Dunnigan type (Orphanet:2348)
Fish-eye disease (Orphanet:79292)
Glycogen storage disease due to glucose-6-phosphatase deficiency type a (Orphanet:79258)
Glycogen storage disease due to glucose-6-phosphatase deficiency type b (Orphanet:79259)
Glycogen storage disease due to liver phosphorylase kinase deficiency (Orphanet:264580)
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3 (OMIM:603776)
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B (OMIM:144010)
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE (OMIM:603813)
HYPERCHOLESTEROLEMIA, FAMILIAL (OMIM:143890)
HYPERLIPOPROTEINEMIA, TYPE II, AND DEAFNESS (OMIM:144300)
Infantile regressive hypertriglyceridemia and hepatosteatosis (Orphanet:300293)
LCAT deficiency (Orphanet:650)
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3 (OMIM:612526)
Lysosomal acid lipase deficiency (Orphanet:275761)
MORBID OBESITY AND SPERMATOGENIC FAILURE (OMIM:615703)
MOVED TO 143890 (OMIM:144400)
Maternally-inherited diabetes and deafness (Orphanet:225)
Mediterranean macrothrombocytopenia (Orphanet:101022)
Megalocornea-intellectual deficit syndrome (Orphanet:2479)
Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism (Orphanet:280679)
Neonatal intrahepatic cholestasis due to citrin deficiency (Orphanet:247598)
Oculocerebrorenal syndrome (Orphanet:534)
PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATIONSYNDROME (OMIM:606721)
Proximal myotonic myopathy (Orphanet:606)
Reynolds syndrome (Orphanet:779)
Schnyder corneal dystrophy (Orphanet:98967)
Sitosterolemia (Orphanet:2882)
Smith-Magenis syndrome (Orphanet:819)
Sneddon syndrome (Orphanet:820)
TEMPLE SYNDROME (OMIM:616222)
Wolman disease (Orphanet:75233)
XANTHOMATOSIS, SUSCEPTIBILITY TO (OMIM:602247)
[DEL] GLYCOGEN STORAGE DISEASE Ib (OMIM:232220)