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Results: 8

1.

Dystonia 10

Familial paroxysmal kinesigenic dyskinesia (referred to as familial PKD in this entry) is characterized by unilateral or bilateral involuntary movements precipitated by other sudden movements such as standing up from a sitting position, being startled, or changes in velocity; attacks include combinations of dystonia, choreoathetosis, and ballism, are sometimes preceded by an aura, and do not involve loss of consciousness. Attacks can be as frequent as 100 per day to as few as one per month. Attacks are usually a few seconds to five minutes in duration but can last several hours. Age of onset, severity and combinations of symptoms vary. Age of onset, typically in childhood and adolescence, ranges from four months to 57 years. The phenotype of PKD can include benign familial infantile epilepsy (BFIE), infantile convulsions and choreoathetosis (ICCA), hemiplegic migraine, migraine with and without aura, and episodic ataxia. Familial PKD is predominantly seen in males. [from GeneReviews]

MedGen UID:
358268
Concept ID:
C1868682
Disease or Syndrome
2.

Myristate

14 carbon straight chain saturated fatty acid common in membrane phospholipids and fatty acylated proteins. [from CRISP]

MedGen UID:
51290
Concept ID:
C0129533
Pharmacologic Substance
3.

Detected

MedGen UID:
617726
Concept ID:
C0442726
Finding
4.

Mitochondrial inheritance

A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy). [from HPO]

MedGen UID:
504838
Concept ID:
CN001305
Finding
5.

Acetate

salts or esters of acetic acid in which the terminal hydrogen atom is replaced by a metal, for instance copper acetate Cu(CH3COO)2, or where substitution is by a radical, for instance ethyl acetate CH3COOC2H5. [from CRISP]

MedGen UID:
452099
Concept ID:
C0000975
Pharmacologic Substance
6.

Signal Transduction Pathways

Describes a group of molecules in a cell that work together to control one or more cell functions, such as cell division or cell death. After the first molecule in a pathway receives a signal, it activates another molecule. This process is repeated until the last molecule is activated and the cell function involved is carried out. Abnormal activation of signaling pathways can lead to cancer, and drugs are being developed to block these pathways. This may help block cancer cell growth and kill cancer cells. [from NCI]

MedGen UID:
39530
Concept ID:
C0086982
Molecular Function
7.

Endopeptidases

nonEC category which corresponds to EC 3.4.21, EC 3.4.22, EC 3.4.23, EC 3.4.24, and EC 3.4.99. [from CRISP]

MedGen UID:
45389
Concept ID:
C0030946
Pharmacologic Substance
8.

Enzyme activation

Conversion of an inactive form of an enzyme to one possessing metabolic activity. It includes 1, activation by ions (activators); 2, activation by cofactors (coenzymes); and 3, conversion of an enzyme precursor (proenzyme or zymogen) to an active enzyme. [from MeSH]

MedGen UID:
41819
Concept ID:
C0014429
Molecular Function

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