KEGG DISEASE: Fabry disease

KEGG

DISEASE: Fabry disease

Entry

H00125                      Disease

Name

Fabry disease;
Anderson-Fabry disease

Supergrp

Sphingolipidosis [DS:H00423]
Lysosomal storage disease [DS:H01425]

Description

Fabry disease is an X-linked lysosomal storage disorder caused by deficient alpha-galactosidase A activity. Symptoms arise because of accumulation of glycosphingolipids -mainly globotriaosylceramide- in multiple organs. Fabry disease affects almost all organs. The most serious complications involve the kidneys, heart, and central nervous system. In contrast to many X-linked diseases, female heterozygotes cannot be considered merely carriers of the mutation. All of the signs and symptoms found in males with Fabry disease also have been reported in females.

Category

Inherited metabolic disorder, Lysosomal disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C56  Lysosomal diseases
     H00125  Fabry disease
Pathway-based classification of diseases [BR:br08402]
Lipid/glycolipid metabolism
  nt06014  Sphingolipid degradation
   H00125  Fabry disease

Pathway

Sphingolipid metabolism

Lysosome

Network

nt06014 Sphingolipid degradation

Gene

GLA [HSA:2717] [KO:K01189]

Drug

Agalsidase alfa [DR:D02784]
Agalsidase beta [DR:D03228]
Pegunigalsidase alfa [DR:D11685]
Migalastat hydrochloride [DR:D05031] (GLA variant)

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Heese BA

Title

Current strategies in the management of lysosomal storage diseases.

Journal

Semin Pediatr Neurol 15:119-26 (2008)
DOI:10.1016/j.spen.2008.05.005

Reference

Authors

Zarate YA, Hopkin RJ

Title

Fabry's disease.

Journal

Lancet 372:1427-35 (2008)
DOI:10.1016/S0140-6736(08)61589-5

Reference

Authors

Kolter T, Sandhoff K

Title

Sphingolipid metabolism diseases.

Journal

Biochim Biophys Acta 1758:2057-79 (2006)
DOI:10.1016/j.bbamem.2006.05.027

Reference

Authors

Wenger DA, Coppola S, Liu SL

Title

Insights into the diagnosis and treatment of lysosomal storage diseases.

Journal

Arch Neurol 60:322-8 (2003)
DOI:10.1001/archneur.60.3.322

Reference

Authors

Schiffmann R

Title

Fabry disease.

Journal

Pharmacol Ther 122:65-77 (2009)
DOI:10.1016/j.pharmthera.2009.01.003

Reference

Authors

Moller AT, Jensen TS

Title

Neurological manifestations in Fabry's disease.

Journal

Nat Clin Pract Neurol 3:95-106 (2007)
DOI:10.1038/ncpneuro0407

LinkDB

» Japanese version

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