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 1 - 10 of 45 in total
Gene ID Gene Symbol Description Source
175 AGA aspartylglucosaminidase
410 ARSA arylsulfatase A
411 ARSB arylsulfatase B
427 ASAH1 N-acylsphingosine amidohydrolase 1
1118 CHIT1 chitinase 1
1593 CYP27A1 cytochrome P450 family 27 subfamily A member 1
1636 ACE angiotensin I converting enzyme
2538 G6PC1 glucose-6-phosphatase catalytic subunit 1
2539 G6PD glucose-6-phosphate dehydrogenase
2548 GAA alpha glucosidase
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 71 - 80 of 80 in total
HPO ID HPO Term
HP:0002013 Vomiting
HP:0003621 Juvenile onset
HP:0001155 Abnormality of the hand
HP:0012332 Abnormal autonomic nervous system physiology
HP:0001658 Myocardial infarction
HP:0003401 Paresthesia
HP:0012702 Tenesmus
HP:0002380 Fasciculations
HP:0002014 Diarrhea
HP:0005144 Ventricular septal hypertrophy
Displaying 1 entry
Gene ID Gene Symbol Description
2717 GLA galactosidase alpha

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Last updated: August 19, 2024