[…] 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]
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]
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]
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]
alpha-mannosidosis Alpha-fucosidase deficiency, see fucosidosis alpha-galactosidase A deficiency, see Fabry disease alpha-galactosidase B deficiency, see Schindler disease
[mygenomics.com]
Fabry disease Angiokeratoma Corporis Diffusum see Fabry disease Angiokeratoma diffuse see Fabry disease Arachnodactyly see Marfan syndrome arteriohepatic dysplasia (AHD)
[prodyachenkov.livejournal.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]
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]
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]
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]
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]
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]
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]
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]
alpha-mannosidosis Alpha-fucosidase deficiency, see fucosidosis alpha-galactosidase A deficiency, see Fabry disease alpha-galactosidase B deficiency, see Schindler disease
[mygenomics.com]
/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]
1 antitrypsin deficiency alpha-1,4-glucosidase deficiency, see Pompe disease alpha-aminoadipic semialdehyde deficiency disease, see hyperlysinemia alpha-D-mannosidosis, see
[mygenomics.com]
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]
alpha-mannosidosis Alpha-fucosidase deficiency, see fucosidosis alpha-galactosidase A deficiency, see Fabry disease alpha-galactosidase B deficiency, see Schindler disease
[mygenomics.com]
Fabry's Disease Lysosomal Storage Disease X-Linked Recessive. alpha-Galactosidase A deficiency ------> buildup of ceramide trihexoside in body tissues.
[kumc.edu]
[…] ataxia type 5 Episodic ataxia type 6 Episodic Ataxia Unknown type Epstein syndrome Exposure to Medications Ataxia Excessive fragmentary hypnic myoclonus Erythromelalgia Fabry
[sanfordresearch.org]
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]
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]
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]
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]
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]
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]
Disease Alpha-Galactosidase A Deficiency Alpha-Galactosidase A, Included Anderson-Fabry Disease Angiokeratoma, Diffuse Ceramide Trihexosidase Deficiency Fabry Disease, Cardiac
[ukgtn.nhs.uk]
Variant Galactosidase, Alpha, Included GLA Deficiency Hereditary Dystopic Lipidosis GLA, INCLUDED 301500 Genetic Test Registry Glycogen Storage Disease IV Amylopectinosis
[ukgtn.nhs.uk]
Susceptibility To, 4 IIAE4 614212 Genetic Test Registry Epidermolysis Bullosa, Lethal Acantholytic Lethal Acantholytic Epidermolysis Bullosa EBLA LAEB 609638 Genetic Test Registry Fabry
[ukgtn.nhs.uk]
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]
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]
Fabry disease and Danon disease are X-linked disorders.
[invitae.com]
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]
Alpha-galactosidase A deficiency.
[neurometplus.com]
disease gangliosidosis type I (GM1) gangliosidosis type II (GM2) type I (Tay-Sachs disease) type II (Sandhoff disease) phosphosphingolipidosis sphingomyeline-cholesterol
[humpath.com]
Combined alpha-neuraminidase and beta-galactosidase deficiency. Galactosialidosis. Late infantile type. Combined alpha-neuraminidase and beta-galactosidase deficiency.
[neurometplus.com]
disease Anderson-Fabry disease, Alpha-galactosidase A deficiency, Angiokeratoma corporis diffusum Hypohidrotic ectodermal dysplasia Anhidrotic ectodermal dysplasia, Ectodermal
[socialstyrelsen.se]
disease Alpha-galactosidase A deficiency Angiokeratoma corporis diffusum Kabuki makeup syndrome Niikawa-Kuroki syndrome Steinert disease Dystrophia myotonica type 1 Congenital
[socialstyrelsen.se]
[…] dysplasia ONH Job disease Hyperimmunoglobulin E syndrome HIES ALPS Canale-Smith syndrome Weyers acrofacial dysostosis Lysosomal-associated membrane protein 2 LAMP2 SSADH deficiency
[socialstyrelsen.se]
alpha-mannosidosis Alpha-fucosidase deficiency, see fucosidosis alpha-galactosidase A deficiency, see Fabry disease alpha-galactosidase B deficiency, see Schindler disease
[mygenomics.com]
Fabry’s disease (Angiokeratoma corporis diffusum, a -galactosidase A deficiency) 3. Infectious neuropathies 1. Leprosy (Hansen’s disease) 2. Herpes Zoster 3.
[hickoryneurology.net]
disease, ALS, liver disease, and atypical Parkinsonism.
[blogs.plos.org]
alpha-mannosidosis Alpha-fucosidase deficiency, see fucosidosis alpha-galactosidase A deficiency, see Fabry disease alpha-galactosidase B deficiency, see Schindler disease
[mygenomics.com]
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]
1 antitrypsin deficiency alpha-1,4-glucosidase deficiency, see Pompe disease alpha-aminoadipic semialdehyde deficiency disease, see hyperlysinemia alpha-D-mannosidosis, see
[mygenomics.com]
alpha alpha-galactosidase a deficiency GLA GALA GLA 300644 4296 junction plakoglobin catenin (cadherin-associated protein), gamma 80kDa catenin, gamma desmoplakin III plakoglobin
[ukgtn.nhs.uk]
Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation 2002 ;105: 1407 - 1411 18.
[nejm.org]
Disease Hypertrophic Cardiomyopathy Left Ventricular Hypertrophy (LVH) GLB1 Beta Galactosidase-1 GM1-Gangliosidosis Cardiomyopathy GLI3 GLI Family Zinc Finger 3 Congenital
[bcm.edu]
alpha-mannosidosis Alpha-fucosidase deficiency, see fucosidosis alpha-galactosidase A deficiency, see Fabry disease alpha-galactosidase B deficiency, see Schindler disease
[mygenomics.com]
Disease Alpha-Galactosidase A Deficiency Alpha-Galactosidase A, Included Anderson-Fabry Disease Angiokeratoma, Diffuse Ceramide Trihexosidase Deficiency Fabry Disease, Cardiac
[ukgtn.nhs.uk]
1 antitrypsin deficiency alpha-1,4-glucosidase deficiency, see Pompe disease alpha-aminoadipic semialdehyde deficiency disease, see hyperlysinemia alpha-D-mannosidosis, see
[mygenomics.com]
Genetic Testing Alpha-1,4 Glucosidase Deficiency Alpha-Galactosidase A Deficiency Alpha-L-Fucosidase Deficiency Alpha-Mannosidase B Deficiency Alpha-Mannosidosis Alpha-N-Acetylgalactosaminidase
[healthmedicinet.com]
alpha-mannosidosis Alpha-fucosidase deficiency, see fucosidosis alpha-galactosidase A deficiency, see Fabry disease alpha-galactosidase B deficiency, see Schindler disease
[mygenomics.com]
High-Density Lipoprotein Deficieny Alpha Thalassemia Alpha Thalassemia X-linked Intellectual Disability Syndrome Alpha-1 Antitrypsin Deficiency Alpha-1 Antitrypsin Deficiency
[healthmedicinet.com]
Eulenburg disease Fabry disease Anderson-Fabry disease, Alpha-galactosidase A deficiency, Angiokeratoma corporis diffusum Faciocutaneoskeletal syndrome Faciodigitogenital
[socialstyrelsen.se]
disease is caused by the lack of or faulty enzyme needed to metabolize lipids, fat-like substances that include oils, waxes, and fatty acids._ The disease is also called alpha-galactosidase-A
[staffsneurologicalalliance.org.uk]
[…] infantile) Encephalotrigeminal Angiomatosis Epilepsy Epileptic Hemiplegia Erb-Duchenne and Dejerine-Klumpke Palsies Erb’s Palsy Essential Tremor Extrapontine Myelinolysis Fabry
[gncdubai.com]
Although Fabry disease is associated with the generalized presentation, a case report in 2010 recommends considering Fabry disease in all male patients with angiokeratomas
[emedicine.medscape.com]
Angiokeratomas in Fabry’s disease and Fordyce’s disease: successful treatment with copper vapour laser.
[thieme-connect.com]
Angiokeratomas in Fabry’s disease and Fordyce’s disease: successful treatment with copper vapour laser. Acta Dermatol Venereol. 1993. 73:133-5.
[emedicine.medscape.com]