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1,810 Possible Causes for Alpha-Galactosidase A Deficiency

  • 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]

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