Fabry disease

Developmental and genetic diseases

Xq22 GeneReviews Google OMIM Orphanet PubMed Who named it? Wikipedia [Eyes] [Nervous system] [Urogenital system]

Fabry disease

*Gene map locus Xq22

Alpha-galactosidase A deficiency

Anderson-Fabry disease

Angiokeratoma corporis diffusum

Angiokeratoma, diffuse

Ceramide trihexosidase deficiency

Hereditary dystopic lipidosis

[Clinical features: cutaneous angiokeratomas; hypohidrosis; acral pain and paresthesias; corneal opacities; renal failure; cardiovascular, gastrointestinal, and CNS disturbances]

[Inheritance: X-linked recessive]

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MRI Characterization of Myocardial Tissue in Patients with Fabry's Disease	MRI Characterization of Myocardial Tissue in Patients with Fabry's Disease	MRI Characterization of Myocardial Tissue in Patients with Fabry's Disease
American Journal of Roentgenology	American Journal of Roentgenology	American Journal of Roentgenology


Fabry disease	Fabry disease	Fabry disease
Anais Brasileiros de Dermatologia	Anais Brasileiros de Dermatologia	Anais Brasileiros de Dermatologia


Arterial Wall Properties and Womersley Flow in Fabry Disease	Angiokeratoma	Deficiency of alpha galactosidase A with accumulation of ceramide trihexoside as lamellated crystalline structures in the cytoplasm of endothelial cells
BMC Cardiovascular Disorders	Department of Neurology - Washington University School of Medicine	Department of Pathology - Virginia Commonwealth University


Deficiency of alpha galactosidase A with accumulation of ceramide trihexoside as lamellated crystalline structures in the cytoplasm of endothelial cells	Fabry's disease (angiokeratoma corporis diffusum)	Angiokeratoma corporis diffusum (Fabry disease)
Department of Pathology - Virginia Commonwealth University	Department of Pathology - Virginia Commonwealth University	Dermatology Online Journal


Angiokeratoma corporis diffusum (Fabry disease)	Cutaneous variant of angiokeratoma corporis diffusum associated with angiokeratoma circumscriptum.	Cutaneous variant of angiokeratoma corporis diffusum associated with angiokeratoma circumscriptum.
Dermatology Online Journal	Dermatology Online Journal	Dermatology Online Journal

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Edited by Aldo Campana, February 8, 2010