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Items: 20

1.

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 GeneReviews]

MedGen UID:
53088
Concept ID:
C0043208
Disease or Syndrome
2.

Lipase

Lipase; an enzyme secreted in the digestive tract that catalyzes the breakdown of fats into individual fatty acids that can be absorbed into the bloodstream. [from NCI]

MedGen UID:
9778
Concept ID:
C0023764
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
3.

Cholesteryl ester storage disease

Cholesteryl ester storage disease (CESD) is a very rare, late-onset, genetic endocrine disease characterized by deficient or inactive lysosomal acid lipase (LAL) causing lipid build-up, which leads to atherosclerosis, hepatomegaly, splenomegaly, progressive liver disease, and malabsorption. [from ORDO]

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

En(a-) phenotype

MedGen UID:
714462
Concept ID:
C1292209
Finding
5.

Storage disease

MedGen UID:
541100
Concept ID:
C0267971
Disease or Syndrome
6.

Position

The anatomical localization of the specified phenotypic abnormality. [from HPO]

MedGen UID:
866377
Concept ID:
C4019252
Functional Concept
7.

Lysosomal acid lipase deficiency

Lysosomal acid lipase 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
Finding
8.

Null Allele

A mutation that results in either no gene product or the absence of function at the phenotypic level. [from NCI]

MedGen UID:
457663
Concept ID:
C2985437
Cell or Molecular Dysfunction
9.

Severity

The intensity or degree of a manifestation. [from HPO]

MedGen UID:
101096
Concept ID:
C0522510
Qualitative Concept
10.

Transient

Not permanent; not lasting; lacking continuity or regularity. [from NCI]

MedGen UID:
64403
Concept ID:
C0205374
Temporal Concept
11.

Sequence Deletion

Deletion of sequences of nucleic acids from the genetic material of an individual. [from MeSH]

MedGen UID:
102460
Concept ID:
C0162773
Cell or Molecular Dysfunction
12.

Disorder of lipid metabolism

An inherited metabolic disorder that affects the metabolism of the lipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease. [from NCI]

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

Point mutation

A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. [from MeSH]

MedGen UID:
56498
Concept ID:
C0162735
Cell or Molecular Dysfunction; Genetic Function
14.

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. . 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
15.

Disorder of lysosomal enzyme

A group of autosomal recessive or X-linked inherited metabolic disorders caused by defects in the function of the lysosomes. Signs and symptoms include hepatomegaly, splenomegaly, nervous system manifestations, skeletal abnormalities, and mental deterioration. Representative examples include Gaucher disease, Niemann-Pick disease, Wolman disease, and Fabry disease. [from NCI]

MedGen UID:
43098
Concept ID:
C0085078
Disease or Syndrome
16.

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
17.

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
18.

Neonatal disorder

A non-neoplastic or neoplastic disorder which occurs during the neonatal period. [from NCI]

MedGen UID:
9460
Concept ID:
C0021290
Disease or Syndrome
19.

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
20.

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
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