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Results: 7

1.

Acid cholesteryl ester hydrolase deficiency, type 2

MedGen UID:
423619
Concept ID:
C2936797
Disease or Syndrome
2.

Lysosomal acid lipase deficiency

Lysosomal acid lipase A (LIPA) deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease (see this term), or 2) a less severe form, cholesteryl ester storage disease (see this term), of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis. [from ORDO]

MedGen UID:
832686
Concept ID:
CN202573
Disease or Syndrome
3.

Cholesteryl ester storage disease

MedGen UID:
830906
Concept ID:
CN205686
Disease or Syndrome
4.

Pulmonary lipid storage disease

MedGen UID:
573550
Concept ID:
C0340118
Disease or Syndrome
5.

Triglyceride storage disease 1

MedGen UID:
349897
Concept ID:
C1860821
Disease or Syndrome
6.

Cholesterol ester storage disease

An autosomal recessive disorder caused by mutations in the gene for acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. [from MeSH]

MedGen UID:
40266
Concept ID:
C0008384
Disease or Syndrome
7.

Lysosomal acid lipase deficiency

Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease and cholesteryl ester storage disease (CESD). Wolman disease is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. Wolman disease is very rare, with an incidence of less than one in 100,000 live births. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a very wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood (summary by Du et al., 2001). [from OMIM]

MedGen UID:
53088
Concept ID:
C0043208
Disease or Syndrome

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