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Disease Information for Fabrys disease/Angiokeratatosis (trihexose ceramide): Disease Mechanism & Classification

Class: CLASS/Pediatric disorders (ex)
: CLASS/Cardiovascular (category); CLASS/Vasculopathy disorder (ex).
: CLASS/Systemic/no comment (category)
Pathophysiology: Pathophysiology/Alpha-galactosidase A deficiency; Pathophysiology/Gene locus Chromosome X.; Pathophysiology/Gene Locus Identified/OMIM database; Pathophysiology/Gene locus Xq22; Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations); Pathophysiology/Heterozygous females/X-link/effected; Pathophysiology/Infiltrative process; Pathophysiology/Lysosomal cholesteryl ester/storage; Pathophysiology/Lysosome storage disorder (ex); Pathophysiology/Maternal inheritance; Pathophysiology/Multisystem disease; Pathophysiology/Skin-vasculature-kidneys lipidosis
: Pathophysiology/Diffuse endothelial damage; Pathophysiology/Myocardial Ischemia Non-Arteriosclerosis; Pathophysiology/Vasculopathy lipid storage effect
: Pathophysiology/Hereditary Neuropathy; Pathophysiology/Inherited Biochemical Neuropathy
: Pathophysiology/Hereditary disease renal effect
Process: PROCESS/Eponymic (category); PROCESS/Glycolipid storage disorder (ex); PROCESS/Hereditofamilial (category); PROCESS/INCIDENCE/Rare disease (ex); PROCESS/Ischemic process (ex); PROCESS/Lipidosis/storage disorder (ex); PROCESS/Metabolic/storage disorder (category); PROCESS/Sex-linked (X-linked) recessive inheritance (ex); PROCESS/Sphingolipid metabolic disorder (ex); PROCESS/Storage disorder (ex)

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