WD
MCID: WLS001
MIFTS: 89

Wilson Disease (WD) malady

Neuronal diseases, Eye diseases, Liver diseases, Nephrological diseases, Metabolic diseases categories

Summaries for Wilson Disease

About this section
Sources:
42NIH Rare Diseases, 33MedlinePlus, 43NINDS, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MedlinePlus:33 Wilson disease is a rare inherited disorder that prevents your body from getting rid of extra copper. you need a small amount of copper from food to stay healthy. too much copper is poisonous. normally, your liver releases extra copper into bile, a digestive fluid. with wilson disease, the copper builds up in your liver, and it releases the copper directly into your bloodstream. this can cause damage to your brain, kidneys, and eyes. wilson disease is present at birth, but symptoms usually start between ages 5 and 35. it first attacks the liver, the central nervous system or both. the most characteristic sign is a rusty brown ring around the cornea of the eye. a physical exam and laboratory tests can diagnose it. treatment is with drugs to remove the extra copper from your body. you need to take medicine and follow a low-copper diet for the rest of your life. don't eat shellfish or liver, as these foods may contain high levels of copper. at the beginning of treatment, you'll also need to avoid chocolate, mushrooms, and nuts. have your drinking water checked for copper content and don't take multivitamins that contain copper. with early detection and proper treatment, you can enjoy good health. nih: national institute of diabetes and digestive and kidney diseases

MalaCards: Wilson Disease, also known as hepatolenticular degeneration, is related to hepatitis and menkes disease. An important gene associated with Wilson Disease is ATP7B (ATPase, Cu++ transporting, beta polypeptide), and among its related pathways are Platinum Pathway, Pharmacokinetics/Pharmacodynamics and Mineral absorption. The drugs trientine and trientine hydrochloride and the compounds acyl phosphate and copper(i) have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and brain, and related mouse phenotypes are pigmentation and liver/biliary system.

NIH Rare Diseases:42 Wilson disease is a rare inherited disorder in which excessive amounts of copper accumulate in the body.  the buildup of copper leads to damage in the kidneys, brain, and eyes.  although copper accumulation begins at birth, symptoms of the disorder typically appear later in life. wilson disease is caused by a mutation of the atp7b gene. people who have wilson disease cannot release copper from the liver at a normal rate, causing a buildup of copper in the body. this condition is inherited in an autosomal recessive manner. treatment includes removing excess copper from the body, reducing intake of foods that are rich in copper and treating any liver or central nervous system damage. lifelong treatment is required. last updated: 2/19/2010

NINDS:43 Wilson disease (WD) is a rare inherited disorder of copper metabolism in which excessive amounts of copper accumulate in the body.

Genetics Home Reference:21 Wilson disease is an inherited disorder in which excessive amounts of copper accumulate in the body, particularly in the liver, brain, and eyes. The signs and symptoms of Wilson disease usually first appear between the ages of 6 and 45, but they most often begin during the teenage years. The features of this condition include a combination of liver disease and neurological and psychiatric problems.

Wikipedia:63 Wilson\'s disease or hepatolenticular degeneration is an autosomal recessive genetic disorder in which... more...

Description from OMIM:46 277900

GeneReviews summary for wilson

Aliases & Classifications for Wilson Disease

About this section
Sources:
8Disease Ontology, 9diseasecard, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 33MedlinePlus, 60UMLS, 34MeSH, 39NCIt, 56SNOMED-CT, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

48
wilson disease:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Childhood


Aliases & Descriptions:

wilson disease 8 9 63 19 42 21 43 46 10 44 48 33
hepatolenticular degeneration 8 19 42 48 60
wilson's disease * 8 20 22
wilson's disease 8 63 21
wd 63 42 21
hepatolenticular degeneration syndrome 63 21
copper storage disease 63 21
westphal-strumpell syndrome 8
westphal pseudosclerosis 8
cerebral pseudosclerosis 8
wnd 42


External Ids:

Disease Ontology8 DOID:893
MeSH34 D006527
NCIt39 C84756
OMIM46 277900
SNOMED-CT via Orphanet57 190823004, 192640001, 88518009
ICD10 via Orphanet26 E83.0

Related Diseases for Wilson Disease

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Wilson Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 171)
idRelated DiseaseScoreTop Affiliating Genes
1hepatitis30.9HFE, GPT, SLC17A5
2menkes disease30.8CP, DNAH8, ATP7B, ATOX1, ATP7A, LOX
3acute liver failure30.7CP, OTC, SLC17A5, GPT
4brain disease30.5PRNP, GPT, SLC17A5, OTC
5hepatocellular carcinoma30.3G6PC, ATP7B, HFE, DNAH8, GPT, PNOC
6hemochromatosis30.1CP, HFE, ATP7B
7iron metabolism disease30.1CP, SLC6A3, HFE, G6PD
8hemolytic anemia30.1CP, HFE, G6PD
9prion disease30.1CP
10parkinson's disease29.9DRD2, SLC6A3
11colon cancer29.9LOX, ATP7A, CP
12movement disease29.9CP, SLC6A3, ATP7B, DRD2
13cholestasis29.9CP, SLC17A5, GPT
14akinetic mutism29.9PRNP
15cystic fibrosis29.9CP, OTC, DNAH8
16vascular disease29.9LOX, G6PD, DNAH8, OTC
17thrombocytopenia29.9SLC17A5, GPT, HFE
18liver cirrhosis29.9LOX, ATP7B, HFE, DNAH8, GPT, PNOC
19alzheimer's disease29.9LOX, DRD2, ATP7A, PRNP, HFE, DNAH8
20leukemia29.9OTC, DNAH8, HFE, LOX
21liver disease10.8
22neurologic diseases10.6
23hepatitis a10.4
24hair disease10.3
25worster drought syndrome10.2
26retinoblastoma10.2
27acanthosis nigricans10.2
28triple-a syndrome10.1
29warty dyskeratoma10.1
30central pontine myelinolysis10.1
31eye disease10.1
32glomerulonephritis10.1
33lipid metabolism disorder10.1
34tuberculosis10.0CP
35hypertension10.0DNAH8
36alcohol dependence10.0DRD2
37neuroblastoma10.0PRNP
38neuropathy10.0DNAH8
39cholelithiasis10.0GPT
40coronary heart disease10.0HFE
41substance abuse10.0DRD2, SLC6A3
42hailey-hailey disease10.0DNAH8
43hepatoblastoma10.0OTC
44pancreatitis10.0SLC17A5
45cataract10.0DNAH8, G6PD
46lactic acidosis10.0G6PC
47colorectal cancer10.0CP, DRD2, LOX
48migraine10.0SLC6A3, PNOC, DRD2
49asthma10.0CP, LOX
50amyotrophic lateral sclerosis10.0LOX, PRNP, SLC6A3

Graphical network of the top 20 diseases related to Wilson Disease:



Diseases related to wilson disease

Clinical Features for Wilson Disease

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

277900

Clinical synopsis from OMIM:

277900

Drugs & Therapeutics for Wilson Disease

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Wilson Disease

Drug clinical trials:

Search ClinicalTrials for Wilson Disease

Search NIH Clinical Center for Wilson Disease

Search CenterWatch for Wilson Disease

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Wilson Disease

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Wilson Disease:

id Genetic test Affiliating Genes
1 Wilson Disease20 ATP7B
2 Wilson's Disease22

Anatomical Context for Wilson Disease

About this section
Sources:
30LifeMap Discovery™, 32MalaCards
See all sources

MalaCards organs/tissues related to Wilson Disease:

32
Liver, Eye, Brain, Kidney, Testes, Bone, Fetal liver, Placenta, Skin, Thyroid, Bone marrow, Cerebellum, Pineal

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Wilson Disease:
id TissueAnatomical CompartmentCell Relevance
1 LiverLiver LobuleHepatocytes Potential therapeutic candidate, affected by disease

Animal Models for Wilson Disease or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Wilson Disease:

36 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000118610.5ATP7A, ATOX1, ATP7B
2MP:000537010.4COMMD1, DRD2, G6PC, ATOX1, HFE, SLC31A1
3MP:000539510.3DRD2, ATOX1, ATP7B, PRNP, SLC31A1
4MP:001077110.2LOX, DRD2, ATP7A, ATOX1, ATP7B, PNOC
5MP:000363110.2ATP7A, ARSA, G6PD, G6PC, DRD2, COMMD1
6MP:000538510.2COMMD1, DRD2, G6PD, ATP7A, ATOX1, SLC31A1
7MP:000538610.2CP, LOX, DRD2, G6PC, ARSA, ATP7A
8MP:000537810.2COMMD1, DRD2, G6PC, G6PD, ATP7A, ATOX1
9MP:000537610.2ATP7A, ARSA, G6PD, G6PC, DRD2, COMMD1
10MP:001076810.1ATP7A, G6PD, G6PC, DRD2, COMMD1, LOX
11MP:000539710.1DRD2, G6PD, ARSA, ATP7B, PRNP, HFE
12MP:00053879.9DRD2, ARSA, ATP7A, ATP7B, PRNP, HFE

Publications for Wilson Disease

About this section
Sources:
50PubMed
See all sources

Articles related to Wilson Disease:

(show top 50)    (show all 553)
idTitleAuthorsYear
1
Seven-Tesla Magnetic Resonance Imaging in Wilson Disease Using Quantitative Susceptibility Mapping for Measurement of Copper Accumulation. (24220252)
2013
2
Wilson disease - factors affecting clinical presentation]. (23650006)
2013
3
Central pontine myelinolysis associated with Wilson disease in a 7-year-old child. (23704419)
2013
4
Evolving perspectives in Wilson disease: diagnosis, treatment and monitoring. (22083169)
2012
5
Late diagnosed Wilson disease with hepatic and neurological manifestations. (21338455)
2011
6
Atypical presentation of Wilson disease. (21901661)
2011
7
Liver transplantation for children with Wilson disease: comparison of outcomes between children and adults. (20946468)
2011
8
Zinc monotherapy is not as effective as chelating agents in treatment of Wilson disease. (21185835)
2011
9
Re-evaluation of the diagnostic criteria for Wilson disease in children with mild liver disease. (20967755)
2010
10
Potential of curcumin as a multifunctional agent to combat Wilson disease. (20513009)
2010
11
Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease. (20517649)
2010
12
Bullous pemphigoid induced by penicillamine in a patient with Wilson disease. (19170410)
2009
13
Lysine-60 in copper chaperone Atox1 plays an essential role in adduct formation with a target Wilson disease domain. (19863064)
2009
14
Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system. (18203200)
2008
15
Once daily trientine for maintenance therapy of Wilson disease. (18289222)
2008
16
Newborn screening for Wilson disease: does liquid chromatography-tandem mass spectrometry provide the solution? (19042985)
2008
17
From clinical and biochemical to molecular genetic diagnosis of Wilson disease in Latvia. (19062534)
2008
18
Therapeutic plasmapheresis as a bridge to liver transplantation in fulminant Wilson disease. (17285615)
2007
19
Twenty-four novel mutations in Wilson disease patients of predominantly Italian origin. (17949296)
2007
20
Wilson disease--a practical approach to diagnosis, treatment and follow-up. (17382611)
2007
21
The clinical value of Tc-99m TRODAT-1 SPECT for evaluating disease severity in young patients with symptomatic and asymptomatic Wilson disease. (18075417)
2007
22
Iron removal by phlebotomy for the prophylaxis of fulminant hepatitis in a Wilson disease model of Long-Evans Cinnamon Rats. (16737843)
2006
23
Familial gene analysis for Wilson disease from north-west Indian patients. (16684691)
2006
24
Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing. (16791614)
2006
25
Genotype-phenotype correlation of the Wilson disease ATP7B gene. (16532467)
2006
26
Prion protein gene codon 129 modulates clinical course of neurological Wilson disease. (16543824)
2006
27
Erythrocyte metabolism and antioxidant status of patients with Wilson disease with hemolytic anemia. (16549536)
2006
28
Simple and effective strategies for detection of allele dropout in PCR-based diagnosis of Wilson disease. (16873303)
2006
29
Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients. (16133174)
2005
30
Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B). (15523622)
2004
31
Early white matter changes in Wilson disease. (15645987)
2004
32
DNA linkage based diagnosis of Wilson disease in asymptomatic siblings. (14723487)
2003
33
Non-radioactive detection of five common microsatellite markers for ATP7B gene in Wilson disease patients. (14602476)
2003
34
Two families with Wilson disease in which siblings showed different phenotypes. (12376745)
2002
35
Wilson disease in two consecutive generations: an exceptional family. (11467673)
2001
36
8th International Conference on Wilson Disease and Menkes Disease. Leipzig, Germany, April 16-18, 2001. Abstracts. (11444216)
2001
37
Mallory bodies, like the mutant of ATP7B seen in Wilson disease, are aggresomes. (11706834)
2001
38
Haemolytic onset of Wilson disease in a patient with homozygous truncation of ATP7B at Arg1319. (11472373)
2001
39
Distribution of patients with Wilson disease carrying the H1069Q mutation in Austria. (10944815)
2000
40
Wilson disease: diagnostic dilemmas? (10896082)
2000
41
Determination of the frequencies of ten allelic variants of the Wilson disease gene (ATP7B), in pooled DNA samples. (11175281)
2000
42
Acute lymphoblastic leukemia in a child with Wilson disease. (11105631)
2000
43
A novel pineal night-specific ATPase encoded by the Wilson disease gene. (9920665)
1999
44
This liver is a giver: Wilson disease and living related liver transplantation. (10487274)
1999
45
Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease. (9554743)
1998
46
Developmental expression of the mouse mottled and toxic milk genes suggests distinct functions for the Menkes and Wilson disease copper transporters. (9215673)
1997
47
Wilson disease mutations associated with uncommon haplotypes in Mediterranean patients. (8931691)
1996
48
Effect of growth hormone on IGF-I levels in a patient with growth hormone deficiency and Wilson disease. (7649526)
1995
49
The Menkes/Wilson disease gene homologue in yeast provides copper to a ceruloplasmin-like oxidase required for iron uptake. (7708696)
1995
50
Brainstem auditory evoked responses in spinocerebellar degeneration and Wilson disease. (7212664)
1981

Genetic Variations for Wilson Disease

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Wilson Disease:

62 (show all 194)
id Symbol AA change Variation ID SNP ID
1ATP7Bp.Gly85ValVAR_000703
2ATP7Bp.Leu492SerVAR_000710
3ATP7Bp.Gly626AlaVAR_000712
4ATP7Bp.Asp642HisVAR_000713
5ATP7Bp.Met645ArgVAR_000714
6ATP7Bp.Met665IleVAR_000715rs72552259
7ATP7Bp.Gly691ArgVAR_000716
8ATP7Bp.Leu708ProVAR_000717
9ATP7Bp.Gly710ArgVAR_000718
10ATP7Bp.Gly710SerVAR_000719
11ATP7Bp.Gly711GluVAR_000720
12ATP7Bp.Tyr713CysVAR_000721
13ATP7Bp.Ile747PheVAR_000723
14ATP7Bp.Asp765AsnVAR_000724rs28942075
15ATP7Bp.Met769ValVAR_000725
16ATP7Bp.Arg778GlyVAR_000727
17ATP7Bp.Arg778LeuVAR_000728rs28942074
18ATP7Bp.Arg778GlnVAR_000729
19ATP7Bp.Arg778TrpVAR_000730
20ATP7Bp.Leu795PheVAR_000731
21ATP7Bp.Pro840LeuVAR_000733
22ATP7Bp.Ile857ThrVAR_000734
23ATP7Bp.Gly869ArgVAR_000736rs191312027
24ATP7Bp.Ala874ValVAR_000737
25ATP7Bp.Asp918AsnVAR_000738
26ATP7Bp.Arg919GlyVAR_000739
27ATP7Bp.Arg919TrpVAR_000740
28ATP7Bp.Ser921AsnVAR_000741
29ATP7Bp.Thr933ProVAR_000742
30ATP7Bp.Thr935MetVAR_000743
31ATP7Bp.Gly943AspVAR_000744
32ATP7Bp.Gly943SerVAR_000745rs28942076
33ATP7Bp.Arg969GlnVAR_000747
34ATP7Bp.Thr977MetVAR_000748
35ATP7Bp.Pro992LeuVAR_000749
36ATP7Bp.Ala1003ThrVAR_000751rs201497300
37ATP7Bp.Ala1018ValVAR_000752
38ATP7Bp.Gly1035ValVAR_000753
39ATP7Bp.Leu1043ProVAR_000755
40ATP7Bp.Glu1064AlaVAR_000756
41ATP7Bp.Glu1064LysVAR_000757
42ATP7Bp.His1069GlnVAR_000758
43ATP7Bp.Leu1083PheVAR_000759
44ATP7Bp.Gly1089GluVAR_000760
45ATP7Bp.Gly1089ValVAR_000761
46ATP7Bp.Gly1101ArgVAR_000762
47ATP7Bp.Ile1102ThrVAR_000763
48ATP7Bp.Gln1142HisVAR_000766
49ATP7Bp.Val1146MetVAR_000767
50ATP7Bp.Ile1148ThrVAR_000768rs60431989
51ATP7Bp.Trp1153CysVAR_000769
52ATP7Bp.Met1169ValVAR_000770
53ATP7Bp.Ala1183GlyVAR_000771
54ATP7Bp.Ala1183ThrVAR_000772
55ATP7Bp.Gly1186CysVAR_000773
56ATP7Bp.Gly1186SerVAR_000774
57ATP7Bp.Gly1213ValVAR_000775
58ATP7Bp.Val1216MetVAR_000776
59ATP7Bp.Thr1220MetVAR_000778
60ATP7Bp.Asp1222TyrVAR_000779
61ATP7Bp.Gly1266ValVAR_000781
62ATP7Bp.Asp1267AlaVAR_000782
63ATP7Bp.Asn1270SerVAR_000783
64ATP7Bp.Pro1273LeuVAR_000784
65ATP7Bp.Ser1310ArgVAR_000787
66ATP7Bp.Arg1322ProVAR_000788
67ATP7Bp.Gly1341AspVAR_000789
68ATP7Bp.Trp1353ArgVAR_000790
69ATP7Bp.Ala1358SerVAR_000791
70ATP7Bp.Arg616GlnVAR_009004
71ATP7Bp.Gly711ArgVAR_009006
72ATP7Bp.Gly711TrpVAR_009007
73ATP7Bp.Ser744ProVAR_009008
74ATP7Bp.Met769ArgVAR_009009
75ATP7Bp.Leu795ArgVAR_009010
76ATP7Bp.Gly869ValVAR_009011
77ATP7Bp.Cys985TyrVAR_009012
78ATP7Bp.Ala1003ValVAR_009013
79ATP7Bp.Thr1033AlaVAR_009014
80ATP7Bp.Arg1041ProVAR_009015
81ATP7Bp.Pro1052LeuVAR_009016
82ATP7Bp.Gly1061GluVAR_009017
83ATP7Bp.Ala1063ValVAR_009018
84ATP7Bp.Glu1068GlyVAR_009019
85ATP7Bp.Gln1095ProVAR_009020
86ATP7Bp.Cys1104PheVAR_009021
87ATP7Bp.Arg1151HisVAR_009022
88ATP7Bp.Met1169ThrVAR_009023
89ATP7Bp.Glu1173LysVAR_009024
90ATP7Bp.Val1239GlyVAR_009026
91ATP7Bp.Val1262PheVAR_009027
92ATP7Bp.Gly1266ArgVAR_009028
93ATP7Bp.Leu1327ValVAR_009030
94ATP7Bp.Ser1363PheVAR_009031
95ATP7Bp.Thr1434MetVAR_009032rs60986317
96ATP7Bp.Gly710AlaVAR_010010
97ATP7Bp.Tyr741CysVAR_010011
98ATP7Bp.Gly891ValVAR_010012
99ATP7Bp.Ile967PheVAR_010013rs60003608
100ATP7Bp.Thr1031IleVAR_010014
101ATP7Bp.Arg1038LysVAR_010015rs59959366
102ATP7Bp.Val1106AspVAR_010017
103ATP7Bp.Trp1153ArgVAR_010018
104ATP7Bp.Gly1176ArgVAR_010019
105ATP7Bp.Asp1222ValVAR_010020
106ATP7Bp.Gly1355SerVAR_010021
107ATP7Bp.Asn41SerVAR_023011
108ATP7Bp.Arg616TrpVAR_023012
109ATP7Bp.Leu641SerVAR_023013rs186924074
110ATP7Bp.Pro690LeuVAR_023014
111ATP7Bp.Ser693CysVAR_023015
112ATP7Bp.Ser721ProVAR_023016
113ATP7Bp.Thr737ArgVAR_023017
114ATP7Bp.Pro760LeuVAR_023018
115ATP7Bp.Asp765GlyVAR_023019
116ATP7Bp.Pro768HisVAR_023020
117ATP7Bp.Met769IleVAR_023021
118ATP7Bp.Val890MetVAR_023023
119ATP7Bp.Gln898ArgVAR_023024
120ATP7Bp.Asp918GluVAR_023025
121ATP7Bp.Val949GlyVAR_023026
122ATP7Bp.Ser975TyrVAR_023027
123ATP7Bp.Thr1033SerVAR_023028
124ATP7Bp.Phe1094LeuVAR_023029
125ATP7Bp.Pro1098ArgVAR_023030
126ATP7Bp.Gly1099SerVAR_023031
127ATP7Bp.Gly1111AspVAR_023032rs182659444
128ATP7Bp.Ala1168SerVAR_023034
129ATP7Bp.Thr1232ProVAR_023035
130ATP7Bp.Lys1248AsnVAR_023037
131ATP7Bp.Leu1255IleVAR_023038
132ATP7Bp.Asp1271AsnVAR_023039
133ATP7Bp.Asp1279GlyVAR_023040
134ATP7Bp.Leu1305ProVAR_023041
135ATP7Bp.Ile1336ThrVAR_023042
136ATP7Bp.Gly1355CysVAR_023043
137ATP7Bp.Leu1373ProVAR_023044
138ATP7Bp.Leu1373ArgVAR_023045
139ATP7Bp.Ala486SerVAR_044454
140ATP7Bp.Tyr532HisVAR_044455
141ATP7Bp.Gly591AspVAR_044456
142ATP7Bp.Ala604ProVAR_044457
143ATP7Bp.His639TyrVAR_044458
144ATP7Bp.Ser653TyrVAR_044459
145ATP7Bp.Cys703TyrVAR_044460
146ATP7Bp.Gly710ValVAR_044461
147ATP7Bp.Ala756GlyVAR_044462
148ATP7Bp.Thr766MetVAR_044463
149ATP7Bp.Thr766ArgVAR_044464
150ATP7Bp.Leu776ProVAR_044465
151ATP7Bp.Ala861ThrVAR_044466
152ATP7Bp.Gly875ValVAR_044467
153ATP7Bp.Gly943CysVAR_044468
154ATP7Bp.Gly988ArgVAR_044469
155ATP7Bp.Thr991MetVAR_044470rs41292782
156ATP7Bp.Pro992HisVAR_044471
157ATP7Bp.Met996ThrVAR_044472
158ATP7Bp.Gly1000ArgVAR_044473
159ATP7Bp.Thr1029IleVAR_044474
160ATP7Bp.Ala1065ProVAR_044475
161ATP7Bp.Cys1104TyrVAR_044476
162ATP7Bp.Val1106IleVAR_044477
163ATP7Bp.Gly1176GluVAR_044478
164ATP7Bp.Gly1221GluVAR_044480
165ATP7Bp.Asp1222AsnVAR_044481
166ATP7Bp.Val1252IleVAR_044482
167ATP7Bp.Gln1256ArgVAR_044483
168ATP7Bp.Asp1279TyrVAR_044484
169ATP7Bp.Gly1287SerVAR_044485
170ATP7Bp.Asp1296AsnVAR_044486rs199821556
171ATP7Bp.Tyr1331SerVAR_044488
172ATP7Bp.Gly1341SerVAR_044489
173ATP7Bp.Gly1341ValVAR_044490
174ATP7Bp.Pro1352SerVAR_044491
175ATP7Bp.Leu1368ProVAR_044492
176ATP7Bp.Cys1375SerVAR_044493
177ATP7Bp.Pro1379SerVAR_044494rs181250704
178ATP7Bp.Val536AlaVAR_058925rs138427376
179ATP7Bp.Ser657ArgVAR_058926
180ATP7Bp.Ala971ValVAR_058927
181ATP7Bp.Thr974MetVAR_058928
182ATP7Bp.Gln1004ProVAR_058929
183ATP7Bp.Gly1149AlaVAR_058930
184ATP7Bp.Asp1164AsnVAR_058931
185ATP7Bp.Glu1173GlyVAR_058932
186ATP7Bp.Arg1228ThrVAR_058933
187ATP7Bp.Ile1230ValVAR_058934rs200911496
188ATP7Bp.Asp1267ValVAR_058935
189ATP7Bp.Ala1328ThrVAR_058936
190ATP7Bp.Met1359IleVAR_058937
191ATP7Bp.Leu549ProVAR_067335
192ATP7Bp.Gly998AspVAR_067336
193ATP7Bp.Asn1332AspVAR_067337
194ATP7Bp.Gly1341ArgVAR_067338

Expression for genes affiliated with Wilson Disease

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Wilson Disease

Search GEO for disease gene expression data for Wilson Disease.

Pathways for genes affiliated with Wilson Disease

About this section
Sources:
49PharmGKB, 29KEGG, 53Reactome
See all sources

Compounds for genes affiliated with Wilson Disease

About this section
Sources:
44Novoseek, 24HMDB, 28IUPHAR, 49PharmGKB, 59Tocris Bioscience, 11DrugBank
See all sources

Compounds related to Wilson Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 118)
idCompoundScoreTop Affiliating Genes
1acyl phosphate4410.8DNAH8, ATP7A, ATP7B
2copper(i)4410.8ATP7B, ATOX1, ATP7A
3thiobarbituric acid4410.7SLC17A5, CP, G6PD
4malondialdehyde4410.7GPT, G6PD, G6PC, SLC17A5, CP
5uric acid44 2411.7G6PD, HFE, GPT, SLC17A5, CP, G6PC
6risperidone28 44 49 59 11 2415.7DRD2, GPT, SLC6A3, SLC17A5
7vitamin b124410.7DNAH8, G6PD, SLC17A5, CP, GPT
8phenobarbital44 28 1112.7GPT, G6PD, CP, SLC17A5, G6PC
9opiate4410.7SLC17A5, SLC6A3, PNOC, DRD2, DNAH8
10valproate4410.7OTC, SLC17A5, GPT, SLC6A3
11carnitine4410.7DNAH8, SLC17A5, CP, OTC, G6PD
12urea44 11 2412.7LOX, OTC, GPT, SLC17A5, G6PC
13ascorbic acid44 2411.7CP, SLC17A5, HFE, G6PD, DRD2, LOX
14pyruvate4410.6G6PC, G6PD, HFE, GPT, OTC, SLC17A5
15cocaine44 1111.6SLC17A5, DRD2, SLC6A3, PNOC, GPT
16oxygen44 2411.6G6PC, PRNP, LOX, ATOX1
17histidine4410.6ATOX1, PRNP, LOX, HFE, OTC, G6PC
18cisplatin44 49 59 1113.6DRD2, SLC31A1, SLC17A5, ATP7B, ATP7A, G6PD
195-hydroxytryptamine4410.6SLC6A3, DRD2, DNAH8, PNOC, ESD
20d penicillamine4410.6LOX, CP, GPT
21thyroxine44 2411.6G6PD, DNAH8, GPT, SLC17A5, CP
22sodium azide4410.6G6PD, DNAH8, CP
23malate4410.6OTC, GPT, DNAH8, G6PD
24lactate4410.6OTC, SLC17A5, GPT, ARSA, G6PD, G6PC
25iron44 2411.6CP, SLC17A5, SLC31A1, HFE, PRNP, ATP7B
26valine4410.6SLC6A3, PRNP, ARSA, G6PD, LOX
27glutamine4410.6GPT, SLC17A5, CP, OTC, DNAH8, ARSA
28creatinine4410.6SLC6A3, SLC17A5, GPT, G6PD, ARSA, OTC
29copper44 2411.6PRNP, SLC31A1, ESD, CP, LOX, COMMD1
30nash4410.6SLC17A5, HFE, GPT
31h2o24410.6LOX, SLC17A5, PRNP, G6PD, CP, SLC6A3
32adenylate4410.5DNAH8, LOX, CP, DRD2, G6PC, ESD
33superoxide44 2411.5LOX, CP, SLC17A5, ATP7B, PNOC, PRNP
34magnesium44 11 2412.5DNAH8, G6PC, LOX, GPT, SLC17A5, CP
35hydrazine4410.5LOX, SLC6A3, CP
36dmso4410.5G6PC, PRNP, G6PD, DNAH8, SLC17A5
37alanine4410.5HFE, GPT, PNOC, SLC6A3, SLC17A5, CP
38glutamate4410.5DNAH8, PNOC, OTC, SLC17A5, SLC6A3, CP
39vitamin-e4410.5G6PD, GPT, CP, SLC17A5
40lipid4410.5OTC, SLC17A5, CP, G6PD, ARSA, PRNP
41cysteine4410.5ARSA, DNAH8, SLC6A3, ATOX1, LOX, HFE
42atp44 2811.5ATP7B, OTC, G6PD, ATP7A, SLC17A5, DNAH8
43aspartate4410.5PRNP, HFE, DNAH8, GPT, SLC17A5, OTC
44arginine4410.4SLC6A3, PRNP, G6PC, GPT, OTC, DNAH8
45asparagine4410.4GPT, PRNP, ARSA, G6PC
46epinephrine44 11 2412.4G6PD, DRD2, DNAH8, CP, SLC17A5
476-phosphogluconate4410.4ESD, G6PD
48isoniazid49 44 1112.3SLC17A5, GPT, G6PD
49valproic acid44 49 11 2413.2SLC17A5, GPT, OTC, CP
50tyrosine449.8PNOC, HFE, PRNP, ATOX1, LOX, ESD

GO Terms for genes affiliated with Wilson Disease

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to Wilson Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral to plasma membraneGO:00588710.3SLC17A5, SLC6A3, SLC31A1, HFE, ATP7B, DRD2

Biological processes related to Wilson Disease according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1copper ion importGO:01567710.6ATP7B, ATP7A
2elastic fiber assemblyGO:04825110.6LOX, ATP7A
3cellular copper ion homeostasisGO:00687810.6ATP7A, ATOX1, ATP7B, PRNP
4copper ion transportGO:00682510.6CP, SLC31A1, ATP7B, ATOX1, ATP7A
5adenohypophysis developmentGO:02198410.6SLC6A3, DRD2
6glucose 6-phosphate metabolic processGO:05115610.5G6PD, G6PC
7locomotory behaviorGO:00762610.5DRD2, ATP7A, SLC6A3
8transmembrane transportGO:05508510.5G6PC, ATP7A, ATP7B, SLC31A1, SLC6A3, SLC17A5
9dopamine metabolic processGO:04241710.5ATP7A, DRD2
10response to iron ionGO:01003910.4DRD2, SLC6A3
11prepulse inhibitionGO:06013410.4SLC6A3, DRD2
12response to drugGO:04249310.2OTC, SLC6A3, DRD2, LOX
13response to copper ionGO:04668810.1PRNP, ATP7B

Molecular functions related to Wilson Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1copper-exporting ATPase activityGO:00400810.5ATP7A, ATP7B
2copper-dependent protein bindingGO:03276710.4ATOX1, ATP7A
3phosphate ion bindingGO:04230110.4OTC, G6PC
4copper ion bindingGO:00550710.4CP, PRNP, ATP7B, ATOX1, ATP7A, COMMD1
5copper ion transmembrane transporter activityGO:00537510.3SLC31A1, ATP7A
6dopamine bindingGO:03524010.1SLC6A3, DRD2

Products for genes affiliated with Wilson Disease

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Wilson Disease

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet