Fabry Disease (FD)

Alias:
Alpha-Galactosidase a Deficiency
Angiokeratoma Corporis Diffusum
Anderson-Fabry Disease
Fabry Disease, Cardiac Variant
Fabry's Disease
Fd
Ceramide Trihexosidase Deficiency
Hereditary Dystopic Lipidosis
Diffuse Angiokeratoma
Gla Deficiency
Alpha Galactosidase Deficiency
Deficiency of Melibiase
Angiokeratoma Diffuse
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Fabry Disease, also known as alpha-galactosidase a deficiency, is related to kanzaki disease and schindler disease, and has symptoms including abdominal pain, angina pectoris and muscular fasciculation. An important gene associated with Fabry Disease is GLA (Galactosidase Alpha). The drugs Acetaminophen and Histamine have been mentioned in the context of this disorder. Affiliated tissues include skin and kidney, and related phenotypes are hearing impairment and corneal opacity
Related ID:
MESH:D000795
ICD11:66996647

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XLD
XL
XLR
Child
1-9/100000
63
568
517

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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