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Definition (NCI)
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A rare X-linked inherited lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase A. It results in the accumulation of glycolipids in the blood vessels and tissues. Signs and symptoms include hypertension, cardiomyopathy, angiokeratomas, neuropathy, hypohidrosis, keratopathy, proteinuria, and renal failure.
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Definition (LNC)
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Fabry disease is an inherited disorder that results from the buildup of a fatty substance called globotriaosylceramide in the body's cells. This buildup leads to episodes of pain, particularly in the hands and feet; small, dark red spots on the skin called angiokeratomas; decreased sweating (hypohidrosis); corneal opacity; and hearing loss. Fabry disease can also involve potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. This disorder is caused by mutations in the GLA gene; it has an X-linked pattern of inheritance.
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Definition (CSP)
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x-linked lysosomal storage disease of glycosphingolipid catabolism, resulting from a deficiency of alpha-galactosidase A and leading to accumulation of ceramide trihexoside in the cardiovascular and renal systems.
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Definition (MSH)
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An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.
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| Concepts |
Disease or Syndrome
(T047)
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| MSH |
D000795
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| ICD10 |
E75.21
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| SnomedCT |
236536000, 190796008, 190792005, 16652001, 124464003 |
| LNC |
LP113911-4, MTHU036941, LA14036-0 |
| English |
Anderson Fabry Disease, Anderson-Fabry Disease, Angiokeratoma Corporis Diffusum, Fabry's Disease, Angiokeratoma corporis diffusm, Ceramide trihexosidase defic, CERAMIDE TRIHEXOSIDE LIPOIDOSIS <FABRYS DISEASE>, alpha Galactosidase A Deficiency Disease, alpha-Galactosidase A Deficiency Disease, FABRY DISEASE, ANDERSON-FABRY DISEASE, HEREDITARY DYSTOPIC LIPIDOSIS, ALPHA-GALACTOSIDASE A DEFICIENCY, GLA DEFICIENCY, CERAMIDE TRIHEXOSIDASE DEFICIENCY, Fabry Disease, ALPHA GALACTOSIDASE A DEFIC DIS, FABRY DIS, alpha galactosidase deficiency, ANGIOKERATOMA CORPORIS DIFFUSUM, Fabry's disease (diagnosis), Alpha-galactosidase A defic, CERAMIDE TRIHEXOSIDE LIPOIDOSIS FABRYS DISEASE, Alpha-Galactosidase A Deficiency, Fabry (-Anderson) disease, Fabry Disease [Disease/Finding], alpha-Galactosidase A Deficiency, alpha Galactosidase A Deficiency, Deficiency, alpha-Galactosidase A, fabry disease, disease fabry's, fabri disease, fabry's disease, thesaurismosis hereditaria, anderson-fabry disease, fabrys disease, disease fabry, Alpha galactosidase A deficiency, Lipidosis, Hereditary Dystopic, Ceramide Trihexosidase Deficiency, Diffuse Angiokeratoma, Deficiency, Ceramide Trihexosidase, Hereditary Dystopic Lipidosis, Angiokeratoma, Diffuse, GLA Deficiency, Deficiency, GLA, Angiokeratoma Diffuse, Alpha-galactosidase A deficiency (disorder), GLA, Angiokeratoma corporis diffusum universale, Fabry's disease, Anderson-Fabry disease, Cardiovasorenal syndrome, Ceramide lactoside lipidosis, Ceramide trihexosidase deficiency, GLA deficiency, Hereditary dystopic lipidosis, Lactosyl ceramidosis, Ruiter-Pompen syndrome, Sweeley-Klionsky disease, Thesaurismosis hereditaria, Thesaurismosis lipoidica, alpha-Galactosidase-A deficiency, Angiokeratoma corporis diffusum, Fabry disease, Alpha-galactosidase A deficiency, Deficiency of alpha-galactosidase (disorder), Deficiency of alpha-galactosidase, Deficiency of melibiase, Fabry's disease (disorder), Fabry, Anderson-Fabry, corporis diffusum; angiokeratoma, angiokeratoma; corporis diffusum, ceramide trihexosidosis, angiokeratoma corporis diffusum, ceramide trihexosidase deficiency |
| Dutch |
angiokeratoma corporis diffusum universale, alfa-galactosidase-A-deficiëntie, angiokeratoom; corporis diffusum, corporis diffusum; angiokeratoom, ziekte van Fabry, Angiokeratoma corporis diffusum, Fabry, ziekte van, Ziekte van Fabry, Ziekte van Fabry-Anderson |
| German |
Angiokeratoma corporis diffusum universale, Mangel an Alpha-Galaktosidase A, Fabry-Syndrom, Angiokeratoma corporis diffusum, Fabry-Anderson-Syndrom, Fabry-Krankheit |
| Italian |
Angiocheratoma corporis diffusum universale, Deficienza di alfa-galattosidasi A, Malattia di Fabry |
| Portuguese |
Angiokeratoma corporis diffusum universale, Deficiência de alfa-galactosidade A, Angioceratoma Corpóreo Difuso, Doença de Anderson-Fabry, Doença de Fabry |
| Spanish |
Angioqueratoma corporal difuso universal, Deficiencia de alfa-galactosidasa A, angioqueratoma corporis difuso universal, deficiencia de GLA, deficiencia de alfa - galactosidasa (trastorno), deficiencia de alfa - galactosidasa A, deficiencia de alfa - galactosidasa, deficiencia de ceramida trihexosidasa, deficiencia de melibiasa, enfermedad de Anderson - Fabry, enfermedad de Anderson Fabry, enfermedad de Fabry (trastorno), enfermedad de Fabry, enfermedad de Sweeley - Klionsky, lactosil ceramidosis, lipoidosis distópica hereditaria, síndrome cariovasorrenal, síndrome de Ruiter - Pompen, tesaurismosis hereditaria, tesaurismosis lipoidica, Enfermedad de Fabry, Angioqueratoma Corpóreo Difuso, Enfermedad de Anderson-Fabry |
| Swedish |
Fabrys sjukdom
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| Japanese |
ﾌｧﾌﾞﾘﾋﾞｮｳ, ｺｳﾊﾝｾｲﾀｲｶﾝｶｸｶｹｯｶﾝｼｭ, αガラクトシダーゼＡ欠乏, ｱﾙﾌｧｶﾞﾗｸﾄｼﾀﾞｰｾﾞAｹﾂﾎﾞｳ, Anderson-Fabry病, Fabry病, α-ガラクトシダーゼ欠損症, びまん性体幹角化血管腫, びまん性体部被角血管腫, びまん性体部角化血管腫, び慢性体部被角血管腫, セラミドトリヘキソシド蓄積症, ファブリ病, 広汎性体幹角化血管腫, 瀰漫性体幹角化血管腫, 糖脂質リピドーシス, 角化血管腫-瀰漫性体幹, び漫性体幹被角血管腫, アンダーソン-ファブリー病, ファブリー病, 角化血管腫-びまん性体幹 |
| Czech |
Andersonova-Fabryho nemoc, Fabryho syndrom, angiokeratoma corporis diffusum, Fabryho nemoc, Angiokeratoma corporis diffusum universalis, Deficit alfa-galaktosidázy A |
| Finnish |
Fabryn tauti
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| Russian |
ANDERSONA-FABRI BOLEZN', FABRI BOLEZN', ANGIOKERATOMA TULOVISHCHA DIFFUZNAIA, АНГИОКЕРАТОМА ТУЛОВИЩА ДИФФУЗНАЯ, АНДЕРСОНА-ФАБРИ БОЛЕЗНЬ, ФАБРИ БОЛЕЗНЬ |
| Polish |
Glikosfingolipidoza, Choroba Andersona-Fabry'ego, Choroba Fabry'ego |
| Hungarian |
Angiokeratoma corporis diffusum universale, Alfa-galaktozidáz A hiány, Fabry-betegség |
| Norwegian |
Arvelig dystopisk lipidose med alfagalaktosidase A-mangel, Fabrys sykdom |
| French |
Thésaurismose lipoïdique héréditaire, Maladie de Fabry, Angiokératome diffus de Fabry, Angiokératose diffuse de Fabry, Sphingolipidose héréditaire de Fabry, Angiokératose diffuse universelle, Déficit en alpha-galactosidase A |
