Format
Items per page

Send to:

Choose Destination

Links from PubMed

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 GeneReviews]

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 OMIM]

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

Hypercholesterolemia

A laboratory test result indicating an increased amount of cholesterol in the blood. [from NCI]

MedGen UID:
312004
Concept ID:
C1522133
Finding
7.

Heterogeneous

The production of the same or similar phenotypes (observed biochemical, physiological, and morphological characteristics of a person determined by his/her genotype) by different genetic mechanisms. There are two types: (1) allelic heterogeneity - when different alleles at a locus can produce variable expression of a condition; and (2) locus heterogeneity - the term used to describe disease in which mutations at different loci can produce the same disease phenotype. [from NCI]

MedGen UID:
67020
Concept ID:
C0242960
Organism Attribute
8.

Abnormality of lipid metabolism

Abnormalities in the serum levels of LIPIDS, including overproduction or deficiency. Abnormal serum lipid profiles may include high total CHOLESTEROL, high TRIGLYCERIDES, low HIGH DENSITY LIPOPROTEIN CHOLESTEROL, and elevated LOW DENSITY LIPOPROTEIN CHOLESTEROL. [from MeSH]

MedGen UID:
66067
Concept ID:
C0242339
Disease or Syndrome
9.

Proximal

Localized close to the central point of the body. [from HPO]

MedGen UID:
64374
Concept ID:
C0205107
Spatial Concept
10.

Hypercholesterolaemia

An increased concentration of cholesterol in the blood. [from HPO]

MedGen UID:
5687
Concept ID:
C0020443
Disease or Syndrome
11.

Lipidemias

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

MedGen UID:
317303
Concept ID:
C1706412
Finding
12.

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
13.

Genetic predisposition

A latent susceptibility to disease at the genetic level, which may be activated under certain conditions. [from MeSH]

MedGen UID:
137259
Concept ID:
C0314657
Organism Attribute
14.

Dyslipoproteinemias

MedGen UID:
108970
Concept ID:
C0598784
Pathologic Function
15.

Disorder of lipid metabolism

Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system (enzymes) break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues. If you have a metabolic disorder, something goes wrong with this process. Lipid metabolism disorders, such as Gaucher disease and Tay-Sachs disease, involve lipids. Lipids are fats or fat-like substances. They include oils, fatty acids, waxes, and cholesterol. If you have one of these disorders, you may not have enough enzymes to break down lipids. Or the enzymes may not work properly and your body can't convert the fats into energy. They cause a harmful amount of lipids to build up in your body. Over time, that can damage your cells and tissues, especially in the brain, peripheral nervous system, liver, spleen, and bone marrow. Many of these disorders can be very serious, or sometimes even fatal. These disorders are inherited. Newborn babies get screened for some of them, using blood tests. If there is a family history of one of these disorders, parents can get genetic testing to see whether they carry the gene. Other genetic tests can tell whether the fetus has the disorder or carries the gene for the disorder. Enzyme replacement therapies can help with a few of these disorders. For others, there is no treatment. Medicines, blood transfusions, and other procedures may help with complications.  [from MedlinePlus]

MedGen UID:
57587
Concept ID:
C0154251
Disease or Syndrome
16.

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
17.

Metabolic disease

Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles, and body fat. A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy. There are different groups of disorders. Some affect the breakdown of amino acids, carbohydrates, or lipids. Another group, mitochondrial diseases, affects the parts of the cells that produce the energy. You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. Diabetes is an example. .  [from MedlinePlus]

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
18.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. [from MeSH]

MedGen UID:
14319
Concept ID:
C0027612
Congenital Abnormality; Disease or Syndrome
19.

Glycerides

glycerol esterified with one or more organic acids, particularly long chain fatty acids. [from CRISP]

MedGen UID:
9055
Concept ID:
C0017860
Carbohydrate; Lipid; Organic Chemical; Pharmacologic Substance
20.

Inborn error of metabolism

Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. [from MeSH]

MedGen UID:
6323
Concept ID:
C0025521
Congenital Abnormality; Disease or Syndrome
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center