WD
MCID: WLS001
MIFTS: 74

Wilson Disease (WD) malady

Neuronal, Eye, Liver, Nephrological, Metabolic categories

Summaries for Wilson Disease

Sources:
43NIH Rare Diseases, 34MedlinePlus, 44NINDS, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

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MedlinePlus:34 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 menkes disease and acute liver failure. 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 bone marrow, brain and cerebellum, and related mouse phenotypes are pigmentation and liver/biliary system.

NIH Rare Diseases:43 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:44 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. Typically, signs and symptoms of Wilson disease first appear between the ages of 6 and 40, but most often begin during the teenage years.

Wikipedia:64 Wilson\'s disease or hepatolenticular degeneration is an autosomal recessive genetic disorder in which... more...

Description from OMIM:47 277900

GeneReviews summary for wilson

Aliases & Classifications for Wilson Disease

Sources:
8Disease Ontology, 9diseasecard, 64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 44NINDS, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 34MedlinePlus, 61UMLS, 35MeSH, 40NCIt, 57SNOMED-CT, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Eye, Liver, Nephrological, Metabolic


Characteristics (Orphanet epidemiological data):

49
wilson disease:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Childhood


Aliases & Descriptions:

wilson disease 8 9 64 19 43 21 44 47 10 45 49 34
hepatolenticular degeneration 8 19 43 49 61
wilson's disease * 8 20 22
wilson's disease 8 64 21
wd 64 43 21
hepatolenticular degeneration syndrome 64 21
copper storage disease 64 21
westphal-strumpell syndrome 8
westphal pseudosclerosis 8
cerebral pseudosclerosis 8
wnd 43


External Ids:

Disease Ontology8 DOID:893
MeSH35 D006527
NCIt40 C84756
OMIM47 277900
ICD10 via Orphanet26 E83.0
SNOMED-CT via Orphanet58 88518009

Related Diseases for Wilson Disease

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 155)
idRelated DiseaseScoreTop Affiliating Genes
1menkes disease30.9CP, DNAH8, ATP7B, ATOX1, ATP7A, LOX
2acute liver failure30.7CP, OTC, SLC17A5, GPT
3brain disease30.6PRNP, GPT, SLC17A5, OTC
4hepatitis c30.3SLC17A5, GPT, HFE
5hemochromatosis30.1CP, HFE, ATP7B
6hepatitis e30.1GPT
7thalassemia29.9G6PD, HFE
8akinetic mutism29.9PRNP
9cystic fibrosis29.9CP, OTC, DNAH8
10vascular disease29.9LOX, G6PD, DNAH8, OTC
11mental retardation29.9DRD2, ATP7A, OTC
12thrombocytopenia29.9SLC17A5, GPT, HFE
13alzheimer's disease29.9LOX, DRD2, ATP7A, PRNP, HFE, DNAH8
14hepatitis d10.4
15aminoaciduria10.3
16hepatitis a10.3
17lip disease10.3
18worster drought syndrome10.2
19acanthosis nigricans10.2
20cerebellar degeneration10.2
21myoclonus epilepsy10.2
22myoclonus10.2
23warty dyskeratoma10.1
24central pontine myelinolysis10.1
25cockayne syndrome10.0
26digeorge syndrome10.0
27kallmann syndrome10.0
28triple-a syndrome10.0
29adenocarcinoma10.0
30hypoxia10.0
31tuberculosis10.0CP
32hypertension10.0DNAH8
33alcohol dependence10.0DRD2
34neuroblastoma10.0PRNP
35neuropathy10.0DNAH8
36cholelithiasis10.0GPT
37coronary heart disease10.0HFE
38substance abuse10.0DRD2, SLC6A3
39hailey-hailey disease10.0DNAH8
40hepatoblastoma10.0OTC
41pancreatitis10.0SLC17A5
42cataract10.0DNAH8, G6PD
43lactic acidosis10.0G6PC
44parkinson's disease10.0DRD2, SLC6A3
45colorectal cancer10.0CP, DRD2, LOX
46migraine10.0SLC6A3, PNOC, DRD2
47asthma10.0CP, LOX
48movement disease10.0CP, SLC6A3, ATP7B, DRD2
49amyotrophic lateral sclerosis10.0LOX, PRNP, SLC6A3
50schimke immunoosseous dysplasia10.0ATP7A, ATP7B, HFE, CP

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



Diseases related to wilson disease

Clinical Features for Wilson Disease

Sources:
47OMIM
See all sources

Clinical features from OMIM:

277900

Clinical synopsis from OMIM:

277900

Drugs & Therapeutics for Wilson Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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 UMLS61/NDF-RT41:

Genetic Tests for Wilson Disease

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

Sources:
31LifeMap Discovery™, 33MalaCards
See all sources

MalaCards organs/tissues related to Wilson Disease:

33
Bone marrow, Brain, Cerebellum, Heart, Small intestine, Kidney, Liver, Thyroid, Breast, Skin, Placenta, B lymphoblasts, B cells, Fetal brain, Fetal liver, Fetal thyroid, Pineal, Pituitary

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

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Wilson Disease

Sources:
51PubMed
See all sources

Articles related to Wilson Disease:

(show top 50)    (show all 762)
idTitleAuthorsYear
1
Metal storage disorders: Wilson disease and hemochromatosis. (24266916)
2014
2
Seven-Tesla Magnetic Resonance Imaging in Wilson Disease Using Quantitative Susceptibility Mapping for Measurement of Copper Accumulation. (24220252)
2013
3
Relative exchangeable copper: A promising tool for family screening in Wilson disease. (24375554)
2013
4
Central pontine myelinolysis associated with Wilson disease in a 7-year-old child. (23704419)
2013
5
Wilson disease, genotype and infertility: is there a correlation? (23307056)
2013
6
Spasmodic muscle cramps and weakness as presenting symptoms in Wilson disease. (23999958)
2013
7
"Not so rare" Wilson disease. (23707004)
2013
8
Outcome and development of symptoms after orthotopic liver transplantation for Wilson disease. (24118554)
2013
9
Acute liver failure as the initial manifestation of Wilson disease triggered by human parvovirus b19 infection. (22217972)
2012
10
Analysis of exon 8 of ATP7B gene in Thai patients with Wilson disease. (22145502)
2011
11
Long-term follow-up of Wilson disease: natural history, treatment, mutations analysis and phenotypic correlation. (20958917)
2011
12
The eye in Wilson disease. (20444834)
2011
13
DNA and RNA studies for molecular characterization of a gross deletion detected in homozygosity in the NH2-terminal region of the ATP7B gene in a Wilson disease patient. (21925265)
2011
14
Interdomain interactions modulate collective dynamics of the metal-binding domains in the Wilson disease protein. (20078131)
2010
15
A novel COMMD1 mutation Thr174Met associated with elevated urinary copper and signs of enhanced apoptotic cell death in a Wilson Disease patient. (20550661)
2010
16
Acute Wilson disease associated with E beta-thalassemia. (19131782)
2008
17
Probing transient copper chaperone-Wilson disease protein interactions at the single-molecule level with nanovesicle trapping. (18247622)
2008
18
Newborn screening for Wilson disease: does liquid chromatography-tandem mass spectrometry provide the solution? (19042985)
2008
19
Rapid diagnosis of Wilson disease by a 28-mutation panel: real-time amplification refractory mutation system in diagnosing acute Wilsonian liver failure. (18760268)
2008
20
New mutations in the Wilson disease gene, ATP7B: implications for molecular testing. (18373411)
2008
21
Value of molecular analysis of Wilson's disease in the absence of tissue copper deposits: a novel ATP7B mutation in an adult patient. (18809983)
2008
22
Hepatitis A super infection as a cause of liver failure in a child with Wilson's disease. (17907522)
2007
23
Late neurological presentations of Wilson disease patients in French population and identification of 8 novel mutations in the ATP7B gene. (17317524)
2007
24
Introducing single-nucleotide polymorphism markers in the diagnosis of Wilson disease. (17711999)
2007
25
The clinical value of Tc-99m TRODAT-1 SPECT for evaluating disease severity in young patients with symptomatic and asymptomatic Wilson disease. (18075417)
2007
26
Iron removal by phlebotomy for the prophylaxis of fulminant hepatitis in a Wilson disease model of Long-Evans Cinnamon Rats. (16737843)
2006
27
Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease. (16649058)
2006
28
Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease. (16644258)
2006
29
Copper-dependent interaction of glutaredoxin with the N termini of the copper-ATPases (ATP7A and ATP7B) defective in Menkes and Wilson diseases. (16884690)
2006
30
Gene symbol: ATP7B. Disease: Wilson disease. (16156015)
2005
31
Mutation analysis of Wilson disease in the Spanish population -identification of a prevalent substitution and eight novel mutations in the ATP7B gene. (15952988)
2005
32
Improvement of cardiovascular autonomic dysfunction following anti-copper therapy in Wilson's disease. (15726258)
2005
33
Analysis of the human homologue of the canine copper toxicosis gene MURR1 in Wilson disease patients. (15205742)
2004
34
Wilson disease. (15205951)
2004
35
Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease. (14966923)
2004
36
Central pontine myelinolysis in Wilson's disease: MR spectroscopy findings. (14994719)
2004
37
Rapid detection of mutations in Wilson disease gene ATP7B by DNA strip technology. (15202786)
2004
38
Decreased bone density, elevated serum osteoprotegerin, and beta-cross-laps in Wilson disease. (12412803)
2002
39
Structural and functional insights of Wilson disease copper-transporting ATPase. (12539961)
2002
40
Elastosis perforans serpiginosa secondary to D-penicillamine treatment in a Wilson's disease patient. (12190204)
2002
41
An adolescent with hemolytic anemia and coagulation disorders as manifestation of Wilson's disease, treated with liver transplantation]. (11234295)
2001
42
Immunochemical studies in Wilson's disease. (12024917)
2001
43
Hypersomnia in Wilson's disease: an unusual symptom in an unusual case. (10770529)
2000
44
Identification and analysis of mutations of the Wilson disease gene in Chinese population. (11775208)
2000
45
DNA haplotype analysis for the diagnosis of Wilson disease in siblings. (11071101)
2000
46
Menkes disease and Wilson disease: two sides of the same copper coin. Part II: Wilson disease. (10595669)
1999
47
This liver is a giver: Wilson disease and living related liver transplantation. (10487274)
1999
48
Curative effect of TCM-WM therapy on Wilson disease with different clinical phenotypes and polymorphisms of ATP7B gene]. (11477856)
1998
49
Effect of growth hormone on IGF-I levels in a patient with growth hormone deficiency and Wilson disease. (7649526)
1995
50
The Wilson disease gene: spectrum of mutations and their consequences. (7626145)
1995

Genetic Variations for Wilson Disease

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Wilson Disease:

63 (show all 195)
id Symbol AA change Variation 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.Ala1278ValVAR_000785
66ATP7Bp.Ser1310ArgVAR_000787
67ATP7Bp.Arg1322ProVAR_000788
68ATP7Bp.Gly1341AspVAR_000789
69ATP7Bp.Trp1353ArgVAR_000790
70ATP7Bp.Ala1358SerVAR_000791
71ATP7Bp.Arg616GlnVAR_009004
72ATP7Bp.Gly711ArgVAR_009006
73ATP7Bp.Gly711TrpVAR_009007
74ATP7Bp.Ser744ProVAR_009008
75ATP7Bp.Met769ArgVAR_009009
76ATP7Bp.Leu795ArgVAR_009010
77ATP7Bp.Gly869ValVAR_009011
78ATP7Bp.Cys985TyrVAR_009012
79ATP7Bp.Ala1003ValVAR_009013
80ATP7Bp.Thr1033AlaVAR_009014
81ATP7Bp.Arg1041ProVAR_009015
82ATP7Bp.Pro1052LeuVAR_009016
83ATP7Bp.Gly1061GluVAR_009017
84ATP7Bp.Ala1063ValVAR_009018
85ATP7Bp.Glu1068GlyVAR_009019
86ATP7Bp.Gln1095ProVAR_009020
87ATP7Bp.Cys1104PheVAR_009021
88ATP7Bp.Arg1151HisVAR_009022
89ATP7Bp.Met1169ThrVAR_009023
90ATP7Bp.Glu1173LysVAR_009024
91ATP7Bp.Val1239GlyVAR_009026
92ATP7Bp.Val1262PheVAR_009027
93ATP7Bp.Gly1266ArgVAR_009028
94ATP7Bp.Leu1327ValVAR_009030
95ATP7Bp.Ser1363PheVAR_009031
96ATP7Bp.Thr1434MetVAR_009032rs60986317
97ATP7Bp.Gly710AlaVAR_010010
98ATP7Bp.Tyr741CysVAR_010011
99ATP7Bp.Gly891ValVAR_010012
100ATP7Bp.Ile967PheVAR_010013rs60003608
101ATP7Bp.Thr1031IleVAR_010014
102ATP7Bp.Arg1038LysVAR_010015rs59959366
103ATP7Bp.Val1106AspVAR_010017
104ATP7Bp.Trp1153ArgVAR_010018
105ATP7Bp.Gly1176ArgVAR_010019
106ATP7Bp.Asp1222ValVAR_010020
107ATP7Bp.Gly1355SerVAR_010021
108ATP7Bp.Asn41SerVAR_023011
109ATP7Bp.Arg616TrpVAR_023012
110ATP7Bp.Leu641SerVAR_023013rs186924074
111ATP7Bp.Pro690LeuVAR_023014
112ATP7Bp.Ser693CysVAR_023015
113ATP7Bp.Ser721ProVAR_023016
114ATP7Bp.Thr737ArgVAR_023017
115ATP7Bp.Pro760LeuVAR_023018
116ATP7Bp.Asp765GlyVAR_023019
117ATP7Bp.Pro768HisVAR_023020
118ATP7Bp.Met769IleVAR_023021
119ATP7Bp.Val890MetVAR_023023
120ATP7Bp.Gln898ArgVAR_023024
121ATP7Bp.Asp918GluVAR_023025
122ATP7Bp.Val949GlyVAR_023026
123ATP7Bp.Ser975TyrVAR_023027
124ATP7Bp.Thr1033SerVAR_023028
125ATP7Bp.Phe1094LeuVAR_023029
126ATP7Bp.Pro1098ArgVAR_023030
127ATP7Bp.Gly1099SerVAR_023031
128ATP7Bp.Gly1111AspVAR_023032rs182659444
129ATP7Bp.Ala1168SerVAR_023034
130ATP7Bp.Thr1232ProVAR_023035
131ATP7Bp.Lys1248AsnVAR_023037
132ATP7Bp.Leu1255IleVAR_023038
133ATP7Bp.Asp1271AsnVAR_023039
134ATP7Bp.Asp1279GlyVAR_023040
135ATP7Bp.Leu1305ProVAR_023041
136ATP7Bp.Ile1336ThrVAR_023042
137ATP7Bp.Gly1355CysVAR_023043
138ATP7Bp.Leu1373ProVAR_023044
139ATP7Bp.Leu1373ArgVAR_023045
140ATP7Bp.Ala486SerVAR_044454
141ATP7Bp.Tyr532HisVAR_044455
142ATP7Bp.Gly591AspVAR_044456
143ATP7Bp.Ala604ProVAR_044457
144ATP7Bp.His639TyrVAR_044458
145ATP7Bp.Ser653TyrVAR_044459
146ATP7Bp.Cys703TyrVAR_044460
147ATP7Bp.Gly710ValVAR_044461
148ATP7Bp.Ala756GlyVAR_044462
149ATP7Bp.Thr766MetVAR_044463
150ATP7Bp.Thr766ArgVAR_044464
151ATP7Bp.Leu776ProVAR_044465
152ATP7Bp.Ala861ThrVAR_044466
153ATP7Bp.Gly875ValVAR_044467
154ATP7Bp.Gly943CysVAR_044468
155ATP7Bp.Gly988ArgVAR_044469
156ATP7Bp.Thr991MetVAR_044470rs41292782
157ATP7Bp.Pro992HisVAR_044471
158ATP7Bp.Met996ThrVAR_044472
159ATP7Bp.Gly1000ArgVAR_044473
160ATP7Bp.Thr1029IleVAR_044474
161ATP7Bp.Ala1065ProVAR_044475
162ATP7Bp.Cys1104TyrVAR_044476
163ATP7Bp.Val1106IleVAR_044477
164ATP7Bp.Gly1176GluVAR_044478
165ATP7Bp.Gly1221GluVAR_044480
166ATP7Bp.Asp1222AsnVAR_044481
167ATP7Bp.Val1252IleVAR_044482
168ATP7Bp.Gln1256ArgVAR_044483
169ATP7Bp.Asp1279TyrVAR_044484
170ATP7Bp.Gly1287SerVAR_044485
171ATP7Bp.Asp1296AsnVAR_044486rs199821556
172ATP7Bp.Tyr1331SerVAR_044488
173ATP7Bp.Gly1341SerVAR_044489
174ATP7Bp.Gly1341ValVAR_044490
175ATP7Bp.Pro1352SerVAR_044491
176ATP7Bp.Leu1368ProVAR_044492
177ATP7Bp.Cys1375SerVAR_044493
178ATP7Bp.Pro1379SerVAR_044494rs181250704
179ATP7Bp.Val536AlaVAR_058925rs138427376
180ATP7Bp.Ser657ArgVAR_058926
181ATP7Bp.Ala971ValVAR_058927
182ATP7Bp.Thr974MetVAR_058928
183ATP7Bp.Gln1004ProVAR_058929
184ATP7Bp.Gly1149AlaVAR_058930
185ATP7Bp.Asp1164AsnVAR_058931
186ATP7Bp.Glu1173GlyVAR_058932
187ATP7Bp.Arg1228ThrVAR_058933
188ATP7Bp.Ile1230ValVAR_058934rs200911496
189ATP7Bp.Asp1267ValVAR_058935
190ATP7Bp.Ala1328ThrVAR_058936
191ATP7Bp.Met1359IleVAR_058937
192ATP7Bp.Leu549ProVAR_067335
193ATP7Bp.Gly998AspVAR_067336
194ATP7Bp.Asn1332AspVAR_067337
195ATP7Bp.Gly1341ArgVAR_067338

Expression for genes affiliated with Wilson Disease

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

Sources:
50PharmGKB, 30KEGG, 54Reactome
See all sources

Compounds for genes affiliated with Wilson Disease

Sources:
45Novoseek, 24HMDB, 29IUPHAR, 50PharmGKB, 60Tocris Bioscience, 11DrugBank
See all sources

Compounds related to Wilson Disease according to GeneCards/GeneDecks:

(show top 50)    (show all 118)
idCompoundScoreTop Affiliating Genes
1acyl phosphate4510.8DNAH8, ATP7A, ATP7B
2copper(i)4510.8ATP7B, ATOX1, ATP7A
3thiobarbituric acid4510.7SLC17A5, CP, G6PD
4malondialdehyde4510.7GPT, G6PD, G6PC, SLC17A5, CP
5uric acid45 2411.7G6PD, HFE, GPT, SLC17A5, CP, G6PC
6risperidone29 45 50 60 11 2415.7DRD2, GPT, SLC6A3, SLC17A5
7vitamin b124510.7DNAH8, G6PD, SLC17A5, CP, GPT
8phenobarbital45 29 1112.7GPT, G6PD, CP, SLC17A5, G6PC
9opiate4510.7SLC17A5, SLC6A3, PNOC, DRD2, DNAH8
10valproate4510.7OTC, SLC17A5, GPT, SLC6A3
11carnitine4510.7DNAH8, SLC17A5, CP, OTC, G6PD
12urea45 11 2412.7LOX, OTC, GPT, SLC17A5, G6PC
13ascorbic acid45 2411.7CP, SLC17A5, HFE, G6PD, DRD2, LOX
14pyruvate4510.6G6PC, G6PD, HFE, GPT, OTC, SLC17A5
15cocaine45 1111.6SLC17A5, DRD2, SLC6A3, PNOC, GPT
16oxygen45 2411.6G6PC, PRNP, LOX, ATOX1
17histidine4510.6ATOX1, PRNP, LOX, HFE, OTC, G6PC
18cisplatin45 50 60 1113.6DRD2, SLC31A1, SLC17A5, ATP7B, ATP7A, G6PD
195-hydroxytryptamine4510.6SLC6A3, DRD2, DNAH8, PNOC, ESD
20d penicillamine4510.6LOX, CP, GPT
21thyroxine45 2411.6G6PD, DNAH8, GPT, SLC17A5, CP
22sodium azide4510.6G6PD, DNAH8, CP
23malate4510.6OTC, GPT, DNAH8, G6PD
24lactate4510.6OTC, SLC17A5, GPT, ARSA, G6PD, G6PC
25iron45 2411.6CP, SLC17A5, SLC31A1, HFE, PRNP, ATP7B
26valine4510.6SLC6A3, PRNP, ARSA, G6PD, LOX
27glutamine4510.6GPT, SLC17A5, CP, OTC, DNAH8, ARSA
28creatinine4510.6SLC6A3, SLC17A5, GPT, G6PD, ARSA, OTC
29copper45 2411.6PRNP, SLC31A1, ESD, CP, LOX, COMMD1
30nash4510.6SLC17A5, HFE, GPT
31h2o24510.6LOX, SLC17A5, PRNP, G6PD, CP, SLC6A3
32adenylate4510.5DNAH8, LOX, CP, DRD2, G6PC, ESD
33superoxide45 2411.5LOX, CP, SLC17A5, ATP7B, PNOC, PRNP
34magnesium45 11 2412.5DNAH8, G6PC, LOX, GPT, SLC17A5, CP
35hydrazine4510.5LOX, SLC6A3, CP
36dmso4510.5G6PC, PRNP, G6PD, DNAH8, SLC17A5
37alanine4510.5HFE, GPT, PNOC, SLC6A3, SLC17A5, CP
38glutamate4510.5DNAH8, PNOC, OTC, SLC17A5, SLC6A3, CP
39vitamin-e4510.5G6PD, GPT, CP, SLC17A5
40lipid4510.5OTC, SLC17A5, CP, G6PD, ARSA, PRNP
41cysteine4510.5ARSA, DNAH8, SLC6A3, ATOX1, LOX, HFE
42atp45 2911.5ATP7B, OTC, G6PD, ATP7A, SLC17A5, DNAH8
43aspartate4510.5PRNP, HFE, DNAH8, GPT, SLC17A5, OTC
44arginine4510.4SLC6A3, PRNP, G6PC, GPT, OTC, DNAH8
45asparagine4510.4GPT, PRNP, ARSA, G6PC
46epinephrine45 11 2412.4G6PD, DRD2, DNAH8, CP, SLC17A5
476-phosphogluconate4510.4ESD, G6PD
48isoniazid50 45 1112.3SLC17A5, GPT, G6PD
49valproic acid45 50 11 2413.2SLC17A5, GPT, OTC, CP
50tyrosine459.8PNOC, HFE, PRNP, ATOX1, LOX, ESD

GO Terms for genes affiliated with Wilson Disease

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Wilson Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet