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Items: 1 to 20 of 24

1.

Combined hyperlipidemia

MedGen UID:
833258
Concept ID:
CN205835
Finding
2.

Hyperlipidemia

An elevated lipid concentration in the blood. [from HPO]

MedGen UID:
606448
Concept ID:
C0428465
Finding
3.

Combined hyperlipidemia

MedGen UID:
398607
Concept ID:
C2712907
Disease or Syndrome
4.

Hyperlipidemia, familial combined

APOE p.Leu167del is a rare genetic variant described in 38 cases in the literature with a range of clinical phenotypes. Three phenotypes can be associated with the APOE p.Leu167del variant: Inherited lipemic splenomegaly (also known as sea-blue histiocytosis) characterized by hypertriglyceridemia and splenomegaly. Variable manifestations include thrombocytopenia, liver function abnormalities, and cardiovascular disease. Autosomal dominant hypercholesterolemia (ADH) characterized by markedly elevated LDL cholesterol levels that leads to premature morbidity and mortality from atherosclerotic cardiovascular disease (ASCVD). Familial combined hyperlipidemia (FCHL) characterized by variable elevations of total cholesterol, triglycerides, or LDL cholesterol and a high risk of premature ASCVD. It has been suggested that the phenotype associated with the APOE p.Leu167del variant may depend on multiple factors, including sex, APOE genotype, control of hyperlipidemia, gene-gene interactions, gene-environment interactions, or perhaps epigenetic and other non-Mendelian effects. [from GTR]

MedGen UID:
6965
Concept ID:
C0020474
Disease or Syndrome
5.

Lipedema

Lipedema is a disorder of adipose tissue characterized by fat legs and orthostatic edema. Characteristically, the buttocks and other parts of the lower extremities are symmetrically enlarged owing to accumulation of excess fat and fluid. The condition affects women almost exclusively and, in most instances, represents an exaggeration of the female form (summary by Hines, 1952). [from GTR]

MedGen UID:
5692
Concept ID:
C0020473
Disease or Syndrome
6.

Risk factor

An aspect of personal behavior or lifestyle, environmental exposure, inborn or inherited characteristic, which, on the basis of epidemiological evidence, is known to be associated with a health-related condition considered important to prevent. [from MeSH]

MedGen UID:
48477
Concept ID:
C0035648
Finding
7.

Clinical finding

Clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient. [from MeSH]

MedGen UID:
19974
Concept ID:
C0037088
Sign or Symptom
8.

Lipemias

Abnormally high level of lipids in blood. [from MeSH]

MedGen UID:
317303
Concept ID:
C1706412
Finding
9.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
10.

Dyslipoproteinemias

MedGen UID:
108970
Concept ID:
C0598784
Pathologic Function
11.

Abnormality of lipid metabolism

A lipoprotein metabolism disorder characterized by decreased levels of high-density lipoproteins, or elevated levels of plasma cholesterol, low-density lipoproteins and/or triglycerides. [from NCI]

MedGen UID:
66067
Concept ID:
C0242339
Disease or Syndrome
12.

Disorder of lipid metabolism

An inherited metabolic disorder caused by an enzyme deficiency, resulting in an inability to oxidize fatty acids for energy production. [from NCI]

MedGen UID:
57587
Concept ID:
C0154251
Disease or Syndrome
13.

Nutritional and Metabolic Diseases

A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances. [from MeSH]

MedGen UID:
45164
Concept ID:
C0028715
Disease or Syndrome
14.

Metabolic disease

A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process. [from NCI]

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
15.

Glycerides

GLYCEROL esterified with FATTY ACIDS. [from MeSH]

MedGen UID:
9055
Concept ID:
C0017860
Organic Chemical; Pharmacologic Substance
16.

Inborn error of metabolism

A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body. [from NCI]

MedGen UID:
6323
Concept ID:
C0025521
Congenital Abnormality; Disease or Syndrome
17.

Lipid Metabolism, Inborn Errors

Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable. [from MeSH]

MedGen UID:
6106
Concept ID:
C0023772
Disease or Syndrome
18.

Genetic Linkage

The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME. [from MeSH]

MedGen UID:
6102
Concept ID:
C0023745
Molecular Function
19.

Epicholesterol

MedGen UID:
4089
Concept ID:
C0014487
Organic Chemical; Pharmacologic Substance
20.

Hyperlipidemia, combined, 2

Familial combined hyperlipidemia is a common familial lipid disorder characterized by a variable pattern of elevated levels of plasma cholesterol and/or triglycerides. It is present in 10 to 20% of patients with premature coronary artery disease. [from GTR]

MedGen UID:
346879
Concept ID:
C1858308
Disease or Syndrome
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