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Items: 14

1.

Specific enzyme deficiency

A finding in which there is a subnormal amount of an enzyme. Enzymes are proteins that are necessary in certain catabolic processes. [from NCI]

MedGen UID:
56197
Concept ID:
C0149676
Disease or Syndrome
2.

Lysosomal acid lipase deficiency

The phenotypic spectrum of lysosomal acid lipase (LAL) deficiency ranges from the infantile-onset form (Wolman disease) to later-onset forms collectively known as cholesterol ester storage disease (CESD). Wolman disease is characterized by infantile-onset malabsorption that results in malnutrition, storage of cholesterol esters and triglycerides in hepatic macrophages that results in hepatomegaly and liver disease, and adrenal gland calcification that results in adrenal cortical insufficiency. Unless successfully treated with hematopoietic stem cell transplantation (HSCT), infants with classic Wolman disease do not survive beyond age one year. CESD may present in childhood in a manner similar to Wolman disease or later in life with such findings as serum lipid abnormalities, hepatosplenomegaly, and/or elevated liver enzymes long before a diagnosis is made. The morbidity of late-onset CESD results from atherosclerosis (coronary artery disease, stroke), liver disease (e.g., altered liver function ± jaundice, steatosis, fibrosis, cirrhosis and related complications of esophageal varices, and/or liver failure), complications of secondary hypersplenism (i.e., anemia and/or thrombocytopenia), and/or malabsorption. Individuals with CESD may have a normal life span depending on the severity of disease manifestations. [from OMIM]

MedGen UID:
53088
Concept ID:
C0043208
Disease or Syndrome
3.

Staining

MedGen UID:
352872
Concept ID:
C1704680
Finding
4.

Xanthomatous deposition

A non-neoplastic disorder characterized by a localized collection of histiocytes containing lipid. Xanthomas usually occur in the skin and subcutaneous tissues, but occasionally they may involve the deep soft tissues. -- 2003 [from NCI]

MedGen UID:
86216
Concept ID:
C0302314
Disease or Syndrome
5.

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
6.

Pregnancy Complication

The co-occurrence of pregnancy and a disease. The disease may precede or follow conception and it may or may not have a deleterious effect on the pregnant woman or fetus. [from NCI]

MedGen UID:
46066
Concept ID:
C0032962
Disease or Syndrome
7.

Embryopathies

MedGen UID:
41754
Concept ID:
C0013949
Disease or Syndrome
8.

Xanthomatosis

MedGen UID:
21939
Concept ID:
C0043325
Disease or Syndrome
9.

Pregnancy

MedGen UID:
10895
Concept ID:
C0032961
Organism Function
10.

Lipoidosis

Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such as hereditary diseases involving lysosomal enzymes required for lipid breakdown. They are classified either by the enzyme defect or by the type of lipid involved. [from MeSH]

MedGen UID:
9780
Concept ID:
C0023794
Disease or Syndrome
11.

Fetal disorder

A non-neoplastic or neoplastic disorder which occurs in the fetus. [from NCI]

MedGen UID:
8822
Concept ID:
C0015929
Disease or Syndrome
12.

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
13.

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
14.

Atheroeruptive xanthoma

MedGen UID:
871319
Concept ID:
C4025807
Disease or Syndrome
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