Alpha-Galactosidase A Deficiency: Causes & Reasons

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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]

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]

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]

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]

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 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]

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]

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]

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]

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]

Schindler Disease Type 1

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]

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]

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

X-Linked Syndromic Mental Retardation Type 17

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]

Adult-Onset Autosomal Recessive Cerebellar Ataxia

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]

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]

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]

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 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]

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]

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]

Alpha-B Crystallinopathy

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]

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]

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]

Fatal Infantile Hypertonic Myofibrillar Myopathy

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]

Tryptophanemia

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]

X-Linked Mandibulofacial Dysostosis

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]

Polyglucosan Body Myopathy Type 2

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]

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]

Dilated Cardiomyopathy Type 1S

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]

Autosomal Recessive Distal Osteolysis Syndrome

Lytic Bone Lesion

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]

High-Density Lipoprotein Deficieny Alpha Thalassemia Alpha Thalassemia X-linked Intellectual Disability Syndrome Alpha-1 Antitrypsin Deficiency Alpha-1 Antitrypsin Deficiency [healthmedicinet.com]

Blepharofacioskeletal Syndrome

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]

Fordyce Angiokeratoma

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]