Alpha-Galactosidase A Deficiency: Causes & Reasons

Possible Causes for Alpha-Galactosidase A Deficiency

[…] 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]

Fabry disease Other names Fabry's disease, Anderson–Fabry disease, angiokeratoma corporis diffusum, alpha-galactosidase A deficiency Alpha galactosidase - the deficient protein [en.wikipedia.org]

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 [ldnz.org.nz]

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]

Schindler Disease

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]

Galactosialidosis

Galactosialidosis (GS) is an autosomal recessive condition caused by combined deficiency of the lysosomal enzymes beta-galactosidase and alpha-neuraminidase. [ncbi.nlm.nih.gov]

Galactosialidosis is a rare lysosomal storage disease associated with deficiencies of alpha-galactosidase and beta-neurominidase. [ncbi.nlm.nih.gov]

The nature of the accumulated compounds is in accordance with the alpha-neuraminidase deficiency in both genetic diseases. [ncbi.nlm.nih.gov]

Acroosteolysis-Keloid-Like Lesions-Premature Aging Syndrome

OMIM (Online Mendelian Inheritance in Man database) reference number: 301500 Synonyms: Anderson-Fabry Disease, alpha - galactosidase A deficiency, angiokeratoma corporis diffusum [lymphedemapeople.com]

Levin syndrome Short rib-polydactyly syndrome type 4 Early-onset zonular cataract Osteopetrosis autosomal recessive 5 Orofaciodigital syndrome 9 Chromosome 18p tetrasomy Fabry [checkrare.com]

See: Aarskog syndrome Alpha-Galactosidase B deficiency (Galb) or N-Acetyl-Alpha-D-Galactosaminidase deficiency (NAGA). [lymphedemapeople.com]

Angiokeratoma Circumscriptum

deficiency. [ganfyd.org]

Angiokeratoma corporis diffusum is often a cutaneous manifestation of hereditary enzymatic disorders of metabolism, including Fabry's disease (X-linked recessive alpha-galactosidase [dermatologyadvisor.com]

Angiokeratoma corporis diffusum is often a cutaneous manifestation of hereditary enzymatic disorders of metabolism, including Fabry’s disease (X-linked recessive alpha-galactosidase [dermatologyadvisor.com]

Schindler Disease Type 3

Other Names for This Condition Alpha-galactosidase B deficiency Alpha-galNAc deficiency, Schindler type Alpha-N-acetylgalactosaminidase deficiency Alpha-NAGA deficiency Angiokeratoma [medlineplus.gov]

[…] activity of the lysosomal enzyme alpha-N-acetylgalactosaminidase (alpha-NAGA or alpha-galactosidase B). [rarediseases.org]

diseases, or very infrequently (1 in 100,000 to 200,000 live births) for most of these disorders, which may be the case for alpha-N-acetylgalactosaminidase deficiency. [rarediseases.org]

Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas

Fabry disease: alpha-galactosidase A deficiency (angiokeratoma corporis diffusum universale). In Freedberg IM, et al., eds. Dermatology in General Medicine. 6th ed. [escholarship.org]

Fabry disease MedGen UID: 8083 •Concept ID: C0002986 • Disease or Syndrome Fabry disease is the most common of the lysosomal storage disorders and results from deficient activity [ncbi.nlm.nih.gov]

disease. [ijdvl.com]

Schindler Disease Type 1

Spastic Ataxia - Corneal Dystrophy

Alpha-mannosidosis Alpha-fucosidase deficiency, see Fucosidosis alpha-galactosidase A deficiency, see Fabry disease alpha-galactosidase B deficiency, see Schindler disease [ghr.nlm.nih.gov]

1 antitrypsin deficiency alpha-1,4-glucosidase deficiency, see Pompe disease alpha-aminoadipic semialdehyde deficiency disease, see Hyperlysinemia alpha-D-mannosidosis, see [ghr.nlm.nih.gov]

disease, see Fabry disease Anderson-Warburg syndrome, see Norrie disease Androgen insensitivity syndrome androgen receptor deficiency, see Androgen insensitivity syndrome [ghr.nlm.nih.gov]

Neuronal Ceroid Lipofuscinosis Type 11

BackgroundFabry disease (OMIM #301500) is an X-linked disorder caused by alpha-galactosidase A deficiency with two major clinical phenotypes: classic and non-classic of different [keyopinionleaders.com]

KOLs Fabry Disease Foudil Lamari Foudil Lamari: Expert Impact Concepts for which Foudil Lamari has direct influence: Fabry disease, Posterior cortical atrophy, Grn mutations [keyopinionleaders.com]

Known for Energy Metabolism | Hepatic Encephalopathy | Cirrhotic Patients | Csf Metabolomics Key People For Fabry Disease Top KOLs in the world #1 Robert J Desnick fabry disease [keyopinionleaders.com]

Cephalin Lipidosis

disease Fabrys disease Fabry's disease Ganglioside sialidase deficiency Gaucher disease Gauchers disease Gaucher's disease Glucosylceramide beta-glucosidase deficiency (disorder [icd9data.com]

[…] of alpha-galactosidase a and leading to accumulation of ceramide trihexoside in the cardiovascular and renal systems 272.7 Excludes Applies To Chemically induced lipidosis [icd9data.com]

[…] recessive trait, it is caused by failure of lysosomal enzymes to be incorporated into lysosomes Severe infantile form of inherited lysosomal lipid storage disease due to deficiency [icd9data.com]

Lymphedema Hypoparathyroidism Syndrome

Galactosidase B Deficiency, Congenital Disorder of Glycosylation Type 1B, Dysplasia Anhidrotic Immunodeficiency Oledaid, Ectodermal dysplasia hypohidrotic immune defici, [158.69.84.99]

Fabry's Disease, German Syndrome, Hypotrichosis Lymphedema, Idiopathic Hydrops Fetalis, Kasabach Merritt Syndrome, Lissencephaly Syndrome, Lymphedema Atrial Septal Defect [mywebanalytics.site]

Fabry disease: alpha-galactosidase deficiency and Schindler dis- ease: alpha-N-acetylgalactosaminidase deficiency. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. [myslide.es]

X-Linked Syndromic Mental Retardation Type 17

alpha-mannosidosis Alpha-fucosidase deficiency, see fucosidosis alpha-galactosidase A deficiency, see Fabry disease alpha-galactosidase B deficiency, see Schindler disease [herenciageneticayenfermedad.blogspot.com]

disease) Sanger Sequencing of the GLA gene Alpha-Galactosidase A Deficiency (Fabry disease) Detection of large deletions and/or duplications in GLA gene by MLPA Alpha-Galactosidase [pentacorelab.hu]

1 antitrypsin deficiency alpha-1,4-glucosidase deficiency, see Pompe disease alpha-aminoadipic semialdehyde deficiency disease, see hyperlysinemia alpha-D-mannosidosis, see [herenciageneticayenfermedad.blogspot.com]

Lysosomal Storage Disease

Fabry disease. Perspectives from 5 years of FOS. Oxford: PharmaGenesis™ Ltd; 2006: 9-20. [thieme-connect.com]

Abstract Fabry disease - the profile of an orphan disease Abstract. Fabry disease is a lysosomal storage disease, characterized by a deficient lysosomal function. [ncbi.nlm.nih.gov]

This evidence leads to new theories of the pathogenesis of Fabry disease. [edoc.ub.uni-muenchen.de]

Cerebelloparenchymal Disorder 2

Fabry disease, an important risk factor for stroke. Lancet 2005; 366:1754–1756. CrossRef PubMed Google Scholar Nakao S, Kodarna C, Takenada T et al. Fabry disease. [link.springer.com]

Osteopenia and osteoporosis: previously unrecognized manifestations of Fabry disease. Clin Genet 2005; 68:93–95. [link.springer.com]

[Clinical efficacy of enzyme replacement therapy in Fabry disease. A critical review]. Rev Med Interne 2009; 30:920–929. [link.springer.com]

Acral Hemorrhagic Variant

Fabry disease, an important risk factor for stroke. Lancet 2005; 366:1754–1756. CrossRef PubMed Google Scholar Nakao S, Kodarna C, Takenada T et al. Fabry disease. [link.springer.com]

Osteopenia and osteoporosis: previously unrecognized manifestations of Fabry disease. Clin Genet 2005; 68:93–95. [link.springer.com]

[Clinical efficacy of enzyme replacement therapy in Fabry disease. A critical review]. Rev Med Interne 2009; 30:920–929. [link.springer.com]

Ayerza Syndrome

Adult premature aging syndrome see Werner syndrome Adult Progeria see Werner syndrome Alagille syndrome Alpha-galactosidase A deficiency see Fabry disease Alström syndrome [prodyachenkov.livejournal.com]

Fabry disease Angiokeratoma Corporis Diffusum see Fabry disease Angiokeratoma diffuse see Fabry disease Arachnodactyly see Marfan syndrome arteriohepatic dysplasia (AHD) [prodyachenkov.livejournal.com]

Familial Hypertrophic Cardiomyopathy Type 11

alpha alpha-galactosidase a deficiency GLA GALA GLA 300644 4296 lysosomal associated membrane protein 2 lysosomal membrane glycoprotein, 110-kd lysosome-associated membrane [ukgtn.nhs.uk]

الصفحة 148 - Cardiac manifestations of Fabry's disease. [books.google.com]

Fabry disease and Danon disease are X-linked disorders. [invitae.com]

Neurocutaneous Syndrome

/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity (T-CMVA) RAG1+del Alpha-Galactosidase A deficiency GLA+del Alpha-thalassemia [uniklinik-freiburg.de]

Disease Symptoms The symptoms that manifest vary significantly between conditions and between individuals. [news-medical.net]

Late-Onset Fabry Disease

Alpha-galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Kinzler KE, Vogelstein B, eds. [ncbi.nlm.nih.gov]

Morgan SH, Rudgc P, Smith SJM, Bronstein AM, Kendall BE, Holly E, et al The neurological complications of Anderson-Fabry disease (alpha-galactosidase A deficiency)—investigation [journals.plos.org]

Functional characterisation of alpha-galactosidase A mutations as a basis for a new classification system in Fabry disease. [ncbi.nlm.nih.gov]

X-linked myotubular myopathy-abnormal genitalia syndrome

Eulenburg disease Fabry disease Anderson-Fabry disease, Alpha-galactosidase A deficiency, Angiokeratoma corporis diffusum Faciocutaneoskeletal syndrome Faciodigitogenital [socialstyrelsen.se]

Disease Sequencing of all coding exons of the gene Deletion and duplication analysis - 1.3 GLB1 GM1-Gangliosidosis Type 1 Sequencing of all coding exons of the gene Deletion [cegat.de]

Alpha-galactosidase A deficiency Alport syndrome -- ALPS ALS Alström syndrome Alström-Hallgren syndrome Alström-Hallgren syndrome Amyotrophic lateral sclerosis ALS, Progressive [socialstyrelsen.se]

Familial Hypertrophic Cardiomyopathy Type 12

alpha alpha-galactosidase a deficiency GLA GALA GLA 300644 4296 lysosomal associated membrane protein 2 lysosomal membrane glycoprotein, 110-kd lysosome-associated membrane [ukgtn.nhs.uk]

Sons who inherit the gene will have Fabry disease. [aerjournal.com]

Fabry disease and Danon disease are X-linked disorders. [invitae.com]

Familial Hypertrophic Cardiomyopathy Type 16

alpha alpha-galactosidase a deficiency GLA GALA GLA 300644 4296 lysosomal associated membrane protein 2 lysosomal membrane glycoprotein, 110-kd lysosome-associated membrane [ukgtn.nhs.uk]

Conclusions This is the confusable case of HOCM with Fabry disease. [bmccardiovascdisord.biomedcentral.com]

Left ventricular hypertrophy can also be caused by metabolic or storage disorders such as Fabry disease ( GLA gene), Danon disease ( LAMP2 gene), and Wolf-Parkinson-White [mayomedicallaboratories.com]

Restrictive Cardiomyopathy Type 2

disease. [link.springer.com]

Sheppard M, Reed E, Lee P, Elliott PM, Pennell DJ (2006) The histological basis of late gadolinium enhancement cardiovascular magnetic resonance in a patient with Anderson-Fabry [link.springer.com]

Cardiovasc Imaging 24: 857–859 CrossRef PubMed CAS Google Scholar Moon JC, Sachdev B, Elkington AG et al. (2003) Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry [link.springer.com]

Familial Hypertrophic Cardiomyopathy Type 18

alpha alpha-galactosidase a deficiency GLA GALA GLA 300644 4296 lysosomal associated membrane protein 2 lysosomal membrane glycoprotein, 110-kd lysosome-associated membrane [ukgtn.nhs.uk]

Fabry disease and Danon disease are X-linked disorders. [invitae.com]

Danon disease, Fabry disease, Noonan syndrome, Pompe disease, Amyloidosis) Lab Method: Deletion/Duplication Analysis Next-Gen Sequencing Ordering Preferred Specimen: 2-5 mL [genedx.com]

Fatal Infantile Hypertonic Myofibrillar Myopathy

Disease Alpha-Galactosidase A Deficiency Alpha-Galactosidase A, Included Anderson-Fabry Disease Angiokeratoma, Diffuse Ceramide Trihexosidase Deficiency Fabry Disease, Cardiac [ukgtn.nhs.uk]

disease, 301500 (3)- GLA Fabry disease, cardiac variant, 301500 (3)- GLA Factor V deficiency, 227400 (3)- F5 Factor XII deficiency, 234000 (3)- F12 Familial cold inflammatory [rcpa.edu.au]

Variant Galactosidase, Alpha, Included GLA Deficiency Hereditary Dystopic Lipidosis GLA, INCLUDED 301500 Genetic Test Registry Glycogen Storage Disease IV Amylopectinosis [ukgtn.nhs.uk]

Osteoarthritis of the Distal Interphalangeal Joint

Fabry disease, an Ander-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. [elsevier.es]

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet, 38 (2001), pp. 750-760 [126.] M.F. Lyon. [elsevier.es]

Fabry's disease: long-term study of a family. Eur J Intern Med, 15 (2004), pp. 210-215 [129.] G. Pintos. Enfermedad de Fabry: reconocimiento en la edad pediátrica. [elsevier.es]

Angiokeratoma of Mibelli

Electron microscopy description In patients with Anderson-Fabry disease, see lipid bodies and lamellar inclusions in endothelial cells, pericytes and smooth muscle cells in [pathologyoutlines.com]

If Fabry disease is suspected, a blood test in males should be undertaken for alpha-galactosidase A activity. [dermnetnz.org]

Angiokeratoma corporis diffusum refers to Fabry's disease,[1] but this is usually considered a distinct condition. [en.wikipedia.org]

Aprosencephaly and Cerebellar Dysgenesis

Disease: 0.07, 0.22, 0.73, 2.50, 5.25, 50.00, 275.36, 536.42, 655.20, 755.49 Androgen Insens. [rifeandzappers2.com]