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Items: 1 to 20 of 27

1.

Imiglucerase

MedGen UID:
80170
Concept ID:
C0291140
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
2.

Gaucher disease

Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal lethal disorder to an asymptomatic type. The identification of three major clinical types (1, 2, and 3) and two other subtypes (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. GD type 1 is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia and thrombocytopenia, lung disease, and the absence of primary central nervous system disease. GD types 2 and 3 are characterized by the presence of primary neurologic disease; in the past, they were distinguished by age of onset and rate of disease progression, but these distinctions are not absolute. Disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years is classified as GD type 2. Individuals with GD type 3 may have onset before age two years, but often have a more slowly progressive course, with survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia. Cardiopulmonary complications have been described with all the clinical subtypes, although varying in frequency and severity. [from GTR]

MedGen UID:
42164
Concept ID:
C0017205
Disease or Syndrome
3.

Pain

An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS. [from MeSH]

MedGen UID:
45282
Concept ID:
C0030193
Sign or Symptom
4.

Pain

MedGen UID:
880950
Concept ID:
CN236637
Disease or Syndrome
5.

Bone pain

An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. [from HPO]

MedGen UID:
57489
Concept ID:
C0151825
Sign or Symptom
6.

Endoglycosidases

MedGen UID:
760845
Concept ID:
C3537242
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
7.

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
8.

Brain Diseases, Metabolic, Inborn

Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero. [from MeSH]

MedGen UID:
156005
Concept ID:
C0752109
Disease or Syndrome
9.

Lysosomal Storage Diseases, Nervous System

A group of enzymatic disorders affecting the nervous system and to a variable degree the skeletal system, lymphoreticular system, and other organs. The conditions are marked by an abnormal accumulation of catabolic material within lysosomes. [from MeSH]

MedGen UID:
148380
Concept ID:
C0751738
Disease or Syndrome
10.

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
11.

Sphingolipidosis

A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign. [from MeSH]

MedGen UID:
52453
Concept ID:
C0037899
Disease or Syndrome
12.

Alglucerase

MedGen UID:
46649
Concept ID:
C0102139
Amino Acid, Peptide, or Protein; Enzyme; Pharmacologic Substance
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.

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.

Unspecified encephalopathy

A functional and/or structural disorder of the brain caused by diseases (e.g. liver disease, kidney disease), medications, chemicals, and injuries. [from NCI]

MedGen UID:
39314
Concept ID:
C0085584
Disease or Syndrome
17.

Disorder of nervous system

A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves. [from NCI]

MedGen UID:
14336
Concept ID:
C0027765
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.

Disorder of brain

A non-neoplastic or neoplastic disorder that affects the brain. [from NCI]

MedGen UID:
14214
Concept ID:
C0006111
Disease or Syndrome
20.

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
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