Fabrys Disease
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  Fabrys Disease



Fabrys Disease

   Lysosomal storage disease caused by a deficiency of alpha-galactosidase A and resulting in an accumulation of globotriaosylceramide in the renal and cardiovascular systems. The disease is X-linked and is characterized by telangiectatic skin lesions, renal failure, and disturbances of the cardiovascular, gastrointestinal, and central nervous systems.

RELATED TERMS
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Disease
Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the rubella (German measles) virus.

Renal
Pertains to kidneys.

Cardiovascular
Of, relating to, or involving the heart and the blood vessels.

Skin
Skin is an organ of the integumentary system; which is composed of a layer of tissues that protect underlying muscles and organs. Skin is used for insulation, vitamin D production, sensation, and excretion (through sweat).

Gastrointestinal
Having to do with the stomach and intestines.

Central
In anatomy and medicine (as elsewhere), central is the opposite of "peripheral" which means away from the center.



SIMILAR TERMS
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Fabrazyme
Fabrazyme is a prescription or over-the-counter drug which is (or once was) approved in the United States and possibly in other countries. Active ingredient(s): agalsidase beta.

Fabricius Bursa
An epithelial outgrowth of the cloaca in birds similar to the thymus in mammals. It atrophies within 6 months after birth and remains as a fibrous remnant in adult birds. It is composed of lymphoid tissue and prior to involution, is the site of B-lymphocyte maturation.

Fabry Disease
Lysosomal storage disease caused by a deficiency of alpha-galactosidase A and resulting in an accumulation of globotriaosylceramide in the renal and cardiovascular systems. The disease is X-linked and is characterized by telangiectatic skin lesions, renal failure, and disturbances of the cardiovascular, gastrointestinal, and central nervous systems.

Fabry's disease
See 'Angiokeratoma corporis diffusum'.



PREVIOUS AND NEXT TERMS
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Factor, Myocardial Depressant
A low molecular weight peptide of about 800-1000 having a negative inotropic effect. It is released into the circulation during experimental hemorrhagic pancreatitis, severe ischemia, and postoligemic shock.

Factor, Microeconomic
The science of utilization, distribution, and consumption of services and materials.

Facility Regulation
Formal voluntary or governmental procedures and standards required of hospitals and health or other facilities to improve operating efficiency, and for the protection of the consumer.

Facial Paralyses, Herpetic
A syndrome characterized by the acute onset of unilateral FACIAL PARALYSIS which progresses over a 2-5 day period. Weakness of the orbicularis oculi muscle and resulting incomplete eye closure may be associated with corneal injury. Pain behind the ear often precedes the onset of paralysis. This condition may be associated with HERPESVIRUS 1, HUMAN infection of the facial nerve. (Adams et al., Principles of Neurology, 6th ed, p1376)

Facial Neuropathies, Acquired
Diseases of the facial nerve or nuclei. Pontine disorders may affect the facial nuclei or nerve fascicle. The nerve may be involved intracranially, along its course through the petrous portion of the temporal bone, or along its extracranial course. Clinical manifestations include facial muscle weakness, loss of taste from the anterior tongue, hyperacusis, and decreased lacrimation.

Fabrys Disease

Factor, Sigma
A protein which is a subunit of RNA polymerase. It effects initiation of specific RNA chains from DNA.

Factor, Stable
Heat- and storage-stable plasma protein that is activated by tissue thromboplastin to form factor VIIa in the extrinsic pathway of blood coagulation. The activated form then catalyzes the activation of factor X to factor Xa.

Factor, Socioeconomic
Social and economic factors that characterize the individual or group within the social structure.

Factor, Serum Thymic
A thymus-dependent nonapeptide found in normal blood. Stimulates the formation of E rosettes and is believed to be involved in T-cell differentiation.

Factor, Scatter
Multifunctional growth factor which regulates both cell growth and cell motility. It exerts a strong mitogenic effect on hepatocytes and primary epithelial cells. Its receptor is PROTO-ONCOGENE PROTEIN C-MET.

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