Fabry disease

Summary
Synonym
  • Alpha-galactosidase A deficiency
  • Angiokeratoma Corporis Diffusum
  • Fabry Disease, Cardiac Variant
  • Fabry's disease
  • alpha galactosidase deficiency
  • deficiency of melibiase
Definition
A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22.
Super Class
sphingolipidosis
External Links
Disease Ontology
DOID:14499
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 31 - 40 of 45 in total
Gene ID Gene Symbol Description Source
6476 SI sucrase-isomaltase
6515 SLC2A3 solute carrier family 2 member 3
6609 SMPD1 sphingomyelin phosphodiesterase 1
7357 UGCG UDP-glucose ceramide glucosyltransferase
7369 UMOD uromodulin
7412 VCAM1 vascular cell adhesion molecule 1
8972 MGAM maltase-glucoamylase
9415 FADS2 fatty acid desaturase 2
10724 OGA O-GlcNAcase
23583 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
17939 Naga N-acetyl galactosaminidase, alpha
Displaying 1 entry
Gene ID Gene Symbol Description Source
315165 Naga alpha-N-acetylgalactosaminidase
The Human Phenotype Ontology
Displaying entries 1 - 10 of 80 in total
HPO ID HPO Term
HP:0000083 Renal insufficiency
HP:0000091 Abnormal renal tubule morphology
HP:0000093 Proteinuria
HP:0000100 Nephrotic syndrome
HP:0000112 Nephropathy
HP:0000179 Thick lower lip vermilion
HP:0000280 Coarse facial features
HP:0000365 Hearing impairment
HP:0000407 Sensorineural hearing impairment
HP:0000518 Cataract
Displaying 1 entry
Gene ID Gene Symbol Description
2717 GLA galactosidase alpha

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Last updated: August 19, 2024