ONTOLOGY REPORT - ANNOTATIONS


Term:Wilson disease
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Accession:DOID:893 term browser browse the term
Definition:A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as LIVER CIRRHOSIS; TREMOR; ATAXIA and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years.
Synonyms:exact_synonym: Copper Storage Disease;   Hepatic Form of Wilson Disease;   Hepato Neurologic Wilson Disease;   Hepato-Neurologic Wilson Diseases;   Hepatocerebral Degeneration;   Hepatocerebral Degenerations;   Hepatolenticular Degeneration Syndrome;   Kinnier Wilson Disease;   Kinnier-Wilson Diseases;   Neurohepatic Degeneration;   Neurohepatic Degenerations;   Progressive Lenticular Degeneration;   Pseudosclerosis;   WD;   WND;   Westphal Strumpell Syndrome;   Westphal pseudosclerosis;   Wilson Disease, Hepatic Form;   Wilson's disease;   Wilsons disease;   cerebral pseudoscleroses;   cerebral pseudosclerosis;   hepatolenticular degeneration
 narrow_synonym: Wilson disease, COMMD1 type
 primary_id: MESH:D006527
 alt_id: OMIA:001071;   OMIA:001988;   OMIM:277900;   RDO:0002346
 xref: GARD:7893
For additional species annotation, visit the Alliance of Genome Resources.


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Wilson disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G A2m alpha-2-macroglobulin JBrowse link 4 154,309,426 154,359,138 RGD:11554173
G Ahcy adenosylhomocysteinase JBrowse link 3 150,587,833 150,603,057 RGD:11554173
G Alg11 ALG11, alpha-1,2-mannosyltransferase JBrowse link 16 74,854,007 74,866,096 RGD:8554872
G Anks1b ankyrin repeat and sterile alpha motif domain containing 1B JBrowse link 7 30,507,135 31,684,604 RGD:11554173
G Anxa5 annexin A5 JBrowse link 2 123,162,477 123,194,730 RGD:10053726
RGD:11554173
G Apoe apolipoprotein E JBrowse link 1 80,612,894 80,616,820 RGD:11554173
G Asmt acetylserotonin O-methyltransferase JBrowse link 12 18,521,383 18,527,036 RGD:11554173
G Atp7a ATPase copper transporting alpha JBrowse link X 77,076,085 77,193,644 RGD:11340212
G Atp7b ATPase copper transporting beta JBrowse link 16 74,865,516 74,944,935 RGD:2292672
RGD:8554872
RGD:11554173
RGD:7240710
RGD:734622
G Atp7bhts ATPase copper transporting beta; hepatitis RGD:631728
RGD:2292672
G Bhmt betaine-homocysteine S-methyltransferase JBrowse link 2 23,236,573 23,256,158 RGD:11554173
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:8554872
G Camk2a calcium/calmodulin-dependent protein kinase II alpha JBrowse link 18 56,193,978 56,295,869 RGD:11554173
G Cp ceruloplasmin JBrowse link 2 104,744,249 104,803,034 RGD:11554173
G Cyp27b1 cytochrome P450, family 27, subfamily b, polypeptide 1 JBrowse link 7 70,333,150 70,340,006 RGD:2307322
G Hamp hepcidin antimicrobial peptide JBrowse link 1 89,368,021 89,369,960 RGD:11554173
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase JBrowse link 2 27,480,224 27,500,654 RGD:2292672
G Il10 interleukin 10 JBrowse link 13 47,738,933 47,743,392 RGD:11554173
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:11554173
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:8554872
G Lox lysyl oxidase JBrowse link 18 47,500,320 47,577,819 RGD:11554173
G Loxl2 lysyl oxidase-like 2 JBrowse link 15 51,276,022 51,365,238 RGD:11554173
G Ndufb7 NADH:ubiquinone oxidoreductase subunit B7 JBrowse link 19 24,701,067 24,705,405 RGD:11554173
G Pkhd1 PKHD1, fibrocystin/polyductin JBrowse link 9 26,164,969 26,736,704 RGD:8554872
G Ppp3ca protein phosphatase 3 catalytic subunit alpha JBrowse link 2 241,909,332 242,186,861 RGD:11554173
G Ppp3cb protein phosphatase 3 catalytic subunit beta JBrowse link 15 4,209,702 4,236,895 RGD:11554173
G Prnp prion protein JBrowse link 3 124,515,917 124,531,320 RGD:11554173
G Ryr1 ryanodine receptor 1 JBrowse link 1 87,959,596 88,066,252 RGD:8554872
G Sdhaf2 succinate dehydrogenase complex assembly factor 2 JBrowse link 1 226,543,671 226,572,414 RGD:11554173
G Smpd1 sphingomyelin phosphodiesterase 1 JBrowse link 1 170,383,682 170,387,525 RGD:1601345
G Snca synuclein alpha JBrowse link 4 90,782,412 90,883,236 RGD:11554173
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
G Timp1 TIMP metallopeptidase inhibitor 1 JBrowse link X 1,364,771 1,369,451 RGD:11554173
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:11554173
Copper-Overload Cirrhosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acta2 actin alpha 2, smooth muscle JBrowse link 1 252,537,614 252,550,394 RGD:11554173
G Casp3 caspase 3 JBrowse link 16 48,845,011 48,863,249 RGD:11554173
G Commd1 copper metabolism domain containing 1 JBrowse link 14 107,664,321 107,759,974 RGD:11554173
G Hgf hepatocyte growth factor JBrowse link 4 15,435,460 15,505,377 RGD:11554173
G Krt19 keratin 19 JBrowse link 10 88,055,843 88,060,560 RGD:11554173
G Krt7 keratin 7 JBrowse link 7 143,059,731 143,075,907 RGD:11554173
G Met MET proto-oncogene, receptor tyrosine kinase JBrowse link 4 44,747,467 44,854,628 RGD:11554173
G Mki67 marker of proliferation Ki-67 JBrowse link 1 207,993,895 208,020,454 RGD:11554173
G Smad2 SMAD family member 2 JBrowse link 18 72,550,107 72,612,078 RGD:11554173
G Stat3 signal transducer and activator of transcription 3 JBrowse link 10 88,790,401 88,842,263 RGD:11554173
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      endocrine system disease 4666
        liver disease 2268
          Wilson disease 50
            Copper-Overload Cirrhosis 11
            Westphal Disease 0
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          brain disease 6412
            Metabolic Brain Diseases 441
              Metabolic Brain Diseases, Inborn 385
                Wilson disease 50
                  Copper-Overload Cirrhosis 11
                  Westphal Disease 0
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.