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ONTOLOGY REPORT - ANNOTATIONS


Term:Fabry disease
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Accession:DOID:14499 term browser browse the term
Definition:An X-linked inherited metabolic disease caused by a deficiency of lysosomal ALPHA-GALACTOSIDASE A. It is characterized by intralysosomal accumulation of globotriaosylceramide and other GLYCOSPHINGOLIPIDS in blood vessels throughout the body leading to multi-system complications including renal, cardiac, cerebrovascular, and skin disorders.
Synonyms:exact_synonym: Anderson-Fabry disease;   Angiokeratoma Corporis Diffusum;   Angiokeratoma Diffuse;   Ceramide Trihexosidase Deficiency;   Fabry's Disease;   GLA Deficiency;   alpha Galactosidase A Deficiency Disease;   alpha galactosidase A deficiency;   alpha galactosidase deficiency;   deficiency of melibiase;   hereditary dystopic lipidosis
 narrow_synonym: FABRY DISEASE, CARDIAC VARIANT
 primary_id: MESH:D000795
 alt_id: OMIM:301500;   RDO:0000103
 xref: GARD:6400;   ICD10CM:E75.21;   NCI:C84701
For additional species annotation, visit the Alliance of Genome Resources.


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Fabry disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:12879402
G Agt angiotensinogen JBrowse link 19 57,321,594 57,333,460 RGD:13432161
G Ar androgen receptor JBrowse link X 67,656,253 67,828,998 RGD:11576234
G Gla galactosidase, alpha JBrowse link X 105,405,915 105,417,331 RGD:1601350
RGD:8554872
RGD:11554173
RGD:7240710
G Il1a interleukin 1 alpha JBrowse link 3 121,824,712 121,836,122 RGD:6907117
G Mylk2 myosin light chain kinase 2 JBrowse link 3 148,386,185 148,397,851 RGD:8554872
G Vdr vitamin D receptor JBrowse link 7 139,344,452 139,394,138 RGD:13432071
Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankib1 ankyrin repeat and IBR domain containing 1 JBrowse link 4 27,473,477 27,597,206 RGD:8554872
G Krit1 KRIT1, ankyrin repeat containing JBrowse link 4 27,438,609 27,473,150 RGD:8554872
Fabry Disease, Cardiac Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gla galactosidase, alpha JBrowse link X 105,405,915 105,417,331 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15503
    Nutritional and Metabolic Diseases 4395
      disease of metabolism 4395
        lipid metabolism disorder 751
          lipid storage disease 372
            sphingolipidosis 49
              Fabry disease 9
                Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas 2
                Fabry Disease, Cardiac Variant 1
Path 2
Term Annotations click to browse term
  disease 15503
    disease of anatomical entity 14857
      nervous system disease 10273
        central nervous system disease 8410
          brain disease 7763
            Metabolic Brain Diseases 481
              Metabolic Brain Diseases, Inborn 414
                Lysosomal Storage Diseases, Nervous System 65
                  sphingolipidosis 49
                    Fabry disease 9
                      Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas 2
                      Fabry Disease, Cardiac Variant 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.