Fabry Disease malady
Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Nephrological diseases, Skin diseases, Metabolic diseases, Fetal diseases categories
49OMIM, 10Disease Ontology, 11diseasecard, 68Wikipedia, 21GeneReviews, 45NIH Rare Diseases, 23Genetics Home Reference, 46NINDS, 47Novoseek, 12DISEASES, 51Orphanet, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 24GTR, 22GeneTests, 59SNOMED-CT, 42NCIt, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
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Aliases & Descriptions for Fabry Disease:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Genetic diseases, Rare diseases, Metabolic diseases, Fetal diseases
Anatomical: Neuronal diseases, Eye diseases, Cardiovascular diseases, Nephrological diseases, Skin diseases
Rare neurological diseases
Rare eye diseases
Rare circulatory system diseases
Rare renal diseases
Rare skin diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
Characteristics (Orphanet epidemiological data):51
Inheritance: X-linked recessive; Age of onset: Childhood; Age of death: adult
OMIM:49 Fabry disease is an X-linked inborn error of glycosphingolipid catabolism resulting from deficient or absent activity... (301500) more...
MalaCards based summary: Fabry Disease, also known as alpha-galactosidase a deficiency, is related to fucosidosis and mucolipidosis ii alpha/beta, and has symptoms including renal insufficiency, nephrotic syndrome and conjunctival telangiectasia. An important gene associated with Fabry Disease is GLA (Galactosidase, Alpha), and among its related pathways are Glycosphingolipid biosynthesis - globo series and Thromboxane A2 receptor signaling. The drug agalsidase beta has been mentioned in the context of this disorder. Affiliated tissues include skin, heart and kidney, and related mouse phenotypes are renal/urinary system and muscle.
NIH Rare Diseases:45 Fabry disease is an inherited disorder that results from the buildup of a particular type of fat in the body's cells and affects many parts of the body. signs and symptoms may include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); and hearing loss. potentially severe complications can include progressive kidney damage, heart attack, and stroke. milder forms of the disorder may appear later in life and affect only the heart or kidneys. fabry disease is caused by mutations in the gla gene and is inherited in an x-linked manner. treatment may include enzyme replacement therapy (ert); pain medications, ace inhibitors; and chronic hemodialysis or renal transplantation for end stage renal disease. last updated: 7/28/2011
NINDS:46 Fabry disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids.
Genetics Home Reference:23 Fabry disease is an inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the body's cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body. Characteristic features of Fabry disease include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); problems with the gastrointestinal system; ringing in the ears (tinnitus); and hearing loss. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. Some affected individuals have milder forms of the disorder that appear later in life and affect only the heart or kidneys.
UniProtKB/Swiss-Prot:67 Fabry disease: Rare X-linked sphingolipidosis disease where glycolipid accumulates in many tissues. The disease consists of an inborn error of glycosphingolipid catabolism. FD patients show systemic accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in the plasma and cellular lysosomes throughout the body. Clinical recognition in males results from characteristic skin lesions (angiokeratomas) over the lower trunk. Patients may show ocular deposits, febrile episodes, and burning pain in the extremities. Death results from renal failure, cardiac or cerebral complications of hypertension or other vascular disease. Heterozygous females may exhibit the disorder in an attenuated form, they are more likely to show corneal opacities.
Wikipedia:68 Fabry disease (/ˈfɑːbri/) (also known as Fabry\'s disease, Anderson-Fabry disease, angiokeratoma... more...
GeneReviews summary for fabry
Symptoms by clinical synopsis from OMIM:301500
Clinical features from OMIM:301500
Symptoms:51 (show all 66)
HPO human phenotypes related to Fabry Disease:(show all 84)
Drugs for Fabry Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 19)
Interventional clinical trials:(show top 50) (show all 102)
Search NIH Clinical Center for Fabry Disease
Inferred drug relations via UMLS65/NDF-RT43:
MalaCards organs/tissues related to Fabry Disease:33
Skin, Heart, Kidney, Eye, Endothelial, Bone, Lung
MGI Mouse Phenotypes related to Fabry Disease:38
Articles related to Fabry Disease:(show top 50) (show all 675)
UniProtKB/Swiss-Prot genetic disease variations for Fabry Disease:67 (show all 157)
Clinvar genetic disease variations for Fabry Disease:5 (show all 122)
Search GEO for disease gene expression data for Fabry Disease.
Pathways related to Fabry Disease according to GeneCards Suite gene sharing:
Cellular components related to Fabry Disease according to GeneCards Suite gene sharing:
Biological processes related to Fabry Disease according to GeneCards Suite gene sharing:(show all 10)
Molecular functions related to Fabry Disease according to GeneCards Suite gene sharing:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet