Fabry Disease
[…] angiokeratoma FD Gla Deficiency FABRY DISEASE edit English Fabry disease human disease Fabry's disease Anderson-Fabry disease angiokeratoma corporis diffusum alpha-galactosidase[wikidata.org]
Fabry Disease (FD) is a genetic disorder caused by alpha-galactosidase A deficiency.[ncbi.nlm.nih.gov]
Anderson-Fabry disease, Angiokeratoma corporis diffusum, Alpha-galactosidase A deficiency, Angiokeratoma, diffuse, GLA deficiency, Ceramide trihexosidase deficiency Overview[checkorphan.org]
Schindler Disease
deficiency adult onset Alpha-Galactosidase B Deficiency Alpha-N-Acetylgalactosaminidase Deficiency, Type I Schindler Disease, Type II Alpha-Naga Deficiency Galb Deficiency[purl.bioontology.org]
alpha-galactosidase B deficiency alpha-galNAc deficiency, Schindler type alpha N-acetylgalactosaminidase deficiency alpha-NAGA deficiency angiokeratome corporis diffusum-glycopeptiduria[ismrd.org]
Also known as: alpha-galactosidase B deficiency alpha-galNAc deficiency, Schindler type alpha-N-acetylgalactosaminidase deficiency alpha-NAGA deficiency angiokeratoma corporis[wiki.ggc.usg.edu]
Angiokeratoma Circumscriptum
deficiency .[ganfyd.org]
Additional studies, namely biochemical and molecular biological analyses, may be indicated to rule out Fabry disease.[symptoma.com]
disease ( angiokeratoma corporis diffusum) Rare serious inherited disorder caused by a deficiency of an alpha-galactosidase enzyme, ceramide trihexosidase Excessive quantities[dermnetnz.org]
Endocrine Dysfunction
BACKGROUND: Fabry disease (FD) is a genetic disorder caused by lysosomal alpha-galactosidase-A deficiency and is characterized by the systemic accumulation of globotriaosylceramide[ncbi.nlm.nih.gov]
Kanzaki Disease
deficiency adult onset Alpha-Galactosidase B Deficiency Alpha-N-Acetylgalactosaminidase Deficiency, Type I Schindler Disease, Type II Alpha-Naga Deficiency Galb Deficiency[purl.bioontology.org]
alpha-galactosidase B deficiency alpha-galNAc deficiency, Schindler type alpha N-acetylgalactosaminidase deficiency alpha-NAGA deficiency angiokeratome corporis diffusum-glycopeptiduria[ismrd.org]
deficiency, type 1 Schindler Disease NAGA Deficiency, Type II NAGA deficiency type 2 Kanzaki disease alpha-N-Acetylgalactosaminidase Deficiency, Type II Alpha-N-acetylgalactosaminidase[purl.bioontology.org]
Insomnia
By Scrip Team The companies plan to use surrogate endpoint data to win approval to challenge Sanofi and Shire for the Fabry disease market.[scripintelligence.com]
Restrictive Cardiomyopathy
However, other infiltrative diseases (i.e. metabolic myopathies, Gaucher, Hunter's, and Hurler's diseases) or storage cardiomyopathies (haemochromatosis, Fabry's disease,[ncbi.nlm.nih.gov]
Sarcoidosis and Fabry disease can infiltrate the nodal conduction region.[symptoma.com]
Risk Factors Family history of RCM Inherited diseases (such as hereditary hemochromatosis, Fabry disease, mutant-type [hereditary] TTR amyloidosis, etc.)[unboundmedicine.com]
Raynaud Phenomenon
Abstract Fabry disease (FD) is a lysosomal disorder leading to progressive systemic involvement, including microvascular damage that leads to neurological and cardiovascular[ncbi.nlm.nih.gov]
This syndrome includes acromegaly, Fabry's disease, pheochromocytoma (PCC), pulmonary adenocarcinoma, carpal tunnel syndrome (CTS), and myxedema.[symptoma.com]
Prevalence of Raynaud phenomenon and nailfold capillaroscopic abnormalities in Fabry disease: a cross-sectional study. Medicine (Baltimore) . 2015 May. 94 (20):e780.[emedicine.medscape.com]
Hyperuricemia
Fabry disease, an X-linked disorder, results from deficient activity of the enzyme α-galactosidase (α-Gal) A and progressive lysosomal deposition of globotriaosylceramide[ncbi.nlm.nih.gov]
Neuropathy
Other rare congenital neuropathies include Fabry disease , Tangier disease, hereditary sensory autonomic neuropathy, and hereditary amyloidosis.[medicinenet.com]
Other rare congenital neuropathies include Fabry disease, Tangier disease, hereditary sensory autonomic neuropathy, and hereditary amyloidosis.[medicinenet.com]
Box 5 Small fibre and autonomic neuropathies Diabetes Amyloidosis Fabry’s disease Tangier disease Hereditary sensory and autonomic neuropathies Chronic idiopathic small fibre[jnnp.bmj.com]