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Items: 20

1.

Copper

A heavy metal trace element with the atomic symbol Cu, atomic number 29, and atomic weight 63.55. [from MeSH]

MedGen UID:
40479
Concept ID:
C0009968
Biologically Active Substance; Element, Ion, or Isotope; Pharmacologic Substance
2.

Wilson disease

Wilson disease is a disorder of copper metabolism that can present with hepatic, neurologic, or psychiatric disturbances, or a combination of these, in individuals ranging from age three years to older than 50 years; symptoms vary among and within families. Liver disease includes recurrent jaundice, simple acute self-limited hepatitis-like illness, autoimmune-type hepatitis, fulminant hepatic failure, or chronic liver disease. Neurologic presentations include movement disorders (tremors, poor coordination, loss of fine-motor control, chorea, choreoathetosis) or rigid dystonia (mask-like facies, rigidity, gait disturbance, pseudobulbar involvement). Psychiatric disturbance includes depression, neurotic behaviors, disorganization of personality, and, occasionally, intellectual deterioration. Kayser-Fleischer rings, frequently present, result from copper deposition in Descemet's membrane of the cornea and reflect a high degree of copper storage in the body. [from GTR]

MedGen UID:
42426
Concept ID:
C0019202
Disease or Syndrome
3.

Down-regulation

A negative regulatory effect on physiological processes at the molecular, cellular, or systemic level. At the molecular level, the major regulatory sites include membrane receptors, genes (GENE EXPRESSION REGULATION), mRNAs (RNA, MESSENGER), and proteins. [from MeSH]

MedGen UID:
4386
Concept ID:
C0013081
Molecular Function
4.

Accumulation

A state characterized by the gradual increase in entities or substances. [from NCI]

MedGen UID:
883922
Concept ID:
C4055506
Finding
5.

Severe

Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
104640
Concept ID:
C0205082
Qualitative Concept
6.

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
7.

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
8.

Heredodegenerative Disorders, Nervous System

Inherited disorders characterized by progressive atrophy and dysfunction of anatomically or physiologically related neurologic systems. [from MeSH]

MedGen UID:
155945
Concept ID:
C0751870
Disease or Syndrome
9.

Neurodegenerative disease

Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures. [from MeSH]

MedGen UID:
101195
Concept ID:
C0524851
Disease or Syndrome
10.

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
11.

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
12.

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
13.

Abnormality of the basal ganglia

Abnormality of the basal ganglia. [from HPO]

MedGen UID:
14035
Concept ID:
C0004782
Disease or Syndrome
14.

Movement disorders

An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. [from HPO]

MedGen UID:
10113
Concept ID:
C0026650
Disease or Syndrome
15.

Abnormality of the liver

A non-neoplastic or neoplastic disorder that affects the liver parenchyma and intrahepatic bile ducts. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and polycystic liver disease. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, intrahepatic cholangiocarcinoma, lymphoma, and angiosarcoma. [from NCI]

MedGen UID:
9792
Concept ID:
C0023895
Disease or Syndrome
16.

Metal Metabolism, Inborn Errors

Dysfunctions in the metabolism of metals resulting from inborn genetic mutations that are inherited or acquired in utero. [from MeSH]

MedGen UID:
6325
Concept ID:
C0025534
Disease or Syndrome
17.

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
18.

Morphological abnormality of the central nervous system

A non-neoplastic or neoplastic disorder which affects the brain and/or spinal cord. [from NCI]

MedGen UID:
3306
Concept ID:
C0007682
Disease or Syndrome
19.

Metabolic encephalopathy

Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function. [from MeSH]

MedGen UID:
647
Concept ID:
C0006112
Disease or Syndrome
20.

Copper accumulation in liver

MedGen UID:
910570
Concept ID:
C3672035
Finding
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