Fabry disease
Findings
No curated finding names Fabry disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.
Definition from the Mondo Disease Ontology (MONDO:0010526), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
80 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abdominal painHPOHP:0002027
- Very frequent (80% to 99% of cases)
- Abnormal glycosphingolipid metabolismHPOHP:0004343
- Very frequent (80% to 99% of cases)
- AnemiaHPOHP:0001903
- Very frequent (80% to 99% of cases)
- AngiokeratomaHPOHP:0001014
- Very frequent (80% to 99% of cases)
- ArthralgiaHPOHP:0002829
- Very frequent (80% to 99% of cases)
- ArthritisHPOHP:0001369
- Very frequent (80% to 99% of cases)
- Congestive heart failure
Show the remaining 68
- FatigueHPOHP:0012378
- Very frequent (80% to 99% of cases)
- Hearing impairmentHPOHP:0000365
- Very frequent (80% to 99% of cases)
- HematuriaHPOHP:0000790
- Very frequent (80% to 99% of cases)
- HyperkeratosisHPOHP:0000962
- Very frequent (80% to 99% of cases)
- HypohidrosisHPOHP:0000966
- Very frequent (80% to 99% of cases)
- MalabsorptionHPOHP:0002024
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GLAHGNC:4296
- Definitive · ClinGen · X-linked · 2019
- Definitive · G2P · X-linked · 2024
- Definitive · Natera · X-linked · 2023
- Strong · Genomics England PanelApp · X-linked · 2020
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
6 names
Resolves to: Fabry disease
- Also called
- Alpha-galactosidase A deficiencyAnderson-Fabry diseaseangiokeratoma corporis diffusumdiffuse angiokeratomaFabry's diseaseFD