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 31 - 40 of 80 in total
HPO ID HPO Term
HP:0001646 Abnormal aortic valve morphology
HP:0001653 Mitral regurgitation
HP:0001678 Atrioventricular block
HP:0001681 Angina pectoris
HP:0001712 Left ventricular hypertrophy
HP:0001903 Anemia
HP:0001945 Fever
HP:0002017 Nausea and vomiting
HP:0002024 Malabsorption
HP:0002027 Abdominal pain
Displaying 1 entry
Gene ID Gene Symbol Description
2717 GLA galactosidase alpha

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Last updated: August 19, 2024