WD
MCID: WLS001
MIFTS: 77

Wilson Disease (WD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Liver diseases, Nephrological diseases, Gastrointestinal diseases categories

Summaries for Wilson Disease

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22Genetics Home Reference, 44NIH Rare Diseases, 35MedlinePlus, 45NINDS, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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MedlinePlus:35 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 hemochromatosis. An important gene associated with Wilson Disease is ATP7B (ATPase, Cu++ transporting, beta polypeptide), and among its related pathways are Ion channel transport and Ion transport by P-type ATPases. The drugs trientine and trientine hydrochloride and the compounds tetrathiomolybdate and acyl phosphate have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and eye, and related mouse phenotypes are pigmentation and cardiovascular system.

Genetics Home Reference:22 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.

NIH Rare Diseases:44 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:45 Wilson disease (WD) is a rare inherited disorder of copper metabolism in which excessive amounts of copper accumulate in the body.

Wikipedia:66 Wilson\'s disease or hepatolenticular degeneration is an autosomal recessive genetic disorder in which... more...

Description from OMIM:48 277900

GeneReviews summary for wilson

Aliases & Classifications for Wilson Disease

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9Disease Ontology, 10diseasecard, 66Wikipedia, 20GeneReviews, 44NIH Rare Diseases, 22Genetics Home Reference, 45NINDS, 48OMIM, 11DISEASES, 46Novoseek, 50Orphanet, 35MedlinePlus, 21GeneTests, 23GTR, 63UMLS, 59SNOMED-CT, 36MeSH, 41NCIt, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet, 37MESH via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
wilson disease:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Childhood


Aliases & Descriptions:

wilson disease 9 10 66 20 44 22 45 48 11 46 50 35
hepatolenticular degeneration 9 20 44 50 63
wilson's disease * 9 21 23
wilson's disease 9 66 22
wd 66 44 22
hepatolenticular degeneration syndrome 66 22
copper storage disease 66 22
westphal-strumpell syndrome 9
westphal pseudosclerosis 9
cerebral pseudosclerosis 9
wnd 44


External Ids:

Disease Ontology9 DOID:893
OMIM48 277900
MeSH36 D006527
NCIt41 C84756
SNOMED-CT via Orphanet60 190823004, 192640001, 88518009
ICD10 via Orphanet27 E83.0
UMLS via Orphanet64 C0019202
MESH via Orphanet37 D006527

Related Diseases for Wilson Disease

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Wilson Disease:



Diseases related to wilson disease

Symptoms for Wilson Disease

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48OMIM
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Symptoms by clinical synopsis from OMIM:

277900

Clinical features from OMIM:

277900

Drugs & Therapeutics for Wilson Disease

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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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 UMLS63/NDF-RT42:

Genetic Tests for Wilson Disease

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21GeneTests, 23GTR
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Genetic tests related to Wilson Disease:

id Genetic test Affiliating Genes
1 Wilson Disease21 ATP7B
2 Wilson's Disease23

Anatomical Context for Wilson Disease

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32LifeMap Discovery™, 34MalaCards
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MalaCards organs/tissues related to Wilson Disease:

34
Liver, Brain, Eye, Kidney, Testes, Bone, Fetal liver, Pineal, Placenta, Thyroid, Bone marrow, Skin, Cerebellum

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

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38MGI
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Publications for Wilson Disease

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53PubMed
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Articles related to Wilson Disease:

(show top 50)    (show all 533)
idTitleAuthorsYear
1
Wilson disease in offspring of affected patients: report of four French families. (23567103)
2013
2
Secondary glaucoma with copper deposition in trabecular meshwork in Wilson disease. (23601675)
2013
3
Long-term Outcome for Wilson Disease: 85% Good. (24246766)
2013
4
Relative exchangeable copper: A promising tool for family screening in Wilson disease. (24375554)
2013
5
Wilson disease - factors affecting clinical presentation]. (23650006)
2013
6
Perioperative management of Wilson disease for therapeutic abortion: a report. (23636000)
2013
7
Neurological symptoms, genotype-phenotype correlations and ethnic-specific differences in Bulgarian patients with Wilson disease. (22735241)
2012
8
Diagnosis of Wilson Disease in Young Children: Molecular Genetic Testing and a Paradigm Shift from the Laboratory Diagnosis. (24010089)
2012
9
New novel mutation of the ATP7B gene in a family with Wilson disease. (22075048)
2012
10
Association of Wilson disease with neurofibromatosis. (22054275)
2011
11
Late diagnosed Wilson disease with hepatic and neurological manifestations. (21338455)
2011
12
Polymorphism of methylenetetrahydrofolate reductase as disease modifier - a dAcjA -vu in Wilson disease? (21396415)
2011
13
Evidence for a critical role of ceruloplasmin oxidase activity in iron metabolism of Wilson disease gene knockout mice. (20594231)
2010
14
Hypoceruloplasminemia-related movement disorder without Kayser-Fleischer rings is different from Wilson disease and not involved in ATP7B mutation. (19572946)
2009
15
Introduction of DNA microarray in molecular diagnostics of Wilson disease]. (19634275)
2009
16
Special stain and X-ray probe microanalysis of livers with Wilson disease. (19254344)
2009
17
An NMR study of the interaction of the N-terminal cytoplasmic tail of the Wilson disease protein with copper(I)-HAH1. (19181666)
2009
18
Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system. (18203200)
2008
19
Acute Wilson disease associated with E beta-thalassemia. (19131782)
2008
20
Perspectives for gene therapy of Wilson disease. (17584039)
2007
21
Case of Sanfilippo syndrome type B and Wilson disease born to unrelated parents]. (16447797)
2006
22
Iron removal by phlebotomy for the prophylaxis of fulminant hepatitis in a Wilson disease model of Long-Evans Cinnamon Rats. (16737843)
2006
23
Gene symbol: ATP7B. Disease: Wilson disease. (17230652)
2006
24
Wilson disease: an update]. (16998287)
2006
25
Wilson disease: clinical and biological aspects]. (16230279)
2005
26
Proteomic analyzes of copper metabolism in an in vitro model of Wilson disease using surface enhanced laser desorption/ionization-time of flight-mass spectrometry. (15660417)
2004
27
Wilson disease]. (15566072)
2004
28
Analysis of the human homologue of the canine copper toxicosis gene MURR1 in Wilson disease patients. (15205742)
2004
29
Pathophysiology and clinical features of Wilson disease. (15554419)
2004
30
Genomic studies of gene expression: regulation of the Wilson disease gene. (12782122)
2003
31
Concordant pre- and postsynaptic deficits of dopaminergic neurotransmission in neurologic Wilson disease. (12591639)
2003
32
Wilson disease manifested primarily as amenorrhea and accompanying thrombocytopenia. (12359384)
2002
33
Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease. (12544487)
2002
34
Introducing Wilson disease mutations into the zinc-transporting P-type ATPase of Escherichia coli. The mutation P634L in the 'hinge' motif (GDGXNDXP) perturbs the formation of the E2P state. (11874474)
2002
35
Copper-induced conformational changes in the N-terminal domain of the Wilson disease copper-transporting ATPase. (10677240)
2000
36
High prevalence of the very rare Wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands, Spain): a genetic and clinical study. (11093740)
2000
37
Mutation analysis in patients with Wilson disease: identification of 4 novel mutations. (10447265)
1999
38
Detection of a rare Wilson disease mutation associated with arylsulfatase A pseudodeficiency. (10406672)
1999
39
Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups. (9482578)
1998
40
Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant? (9837819)
1998
41
Copper and ceruloplasmin metabolism in the LEC rat, an animal model for Wilson disease. (9686357)
1998
42
Cloning and characterization of a metal responsive element-containing fragment from the Wilson disease gene locus by junction trapping. (11717929)
1998
43
24 bp deletion and Ala1278 to Val mutation of the ATP7B gene in a Sardinian family with Wilson disease. (9222767)
1997
44
Acute liver failure as the initial manifestation of Wilson disease]. (7565403)
1995
45
Molecular pathology and haplotype analysis of Wilson disease in Mediterranean populations. (8533760)
1995
46
A novel RNA splicing mutation in Japanese patients with Wilson disease. (8526905)
1995
47
Effect of growth hormone on IGF-I levels in a patient with growth hormone deficiency and Wilson disease. (7649526)
1995
48
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. (8298641)
1993
49
Linkage studies of the esterase D and retinoblastoma genes to canine copper toxicosis: a model for Wilson disease. (8432554)
1993
50
Wilson Disease (20301685)
1993

Variations for Wilson Disease

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Wilson Disease:

65 (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

Clinvar genetic disease variations for Wilson Disease:

1 (show all 28)
id Gene Name Type Significance SNP ID Assembly Location
1ATP7BNM_000053.3(ATP7B): c.2305A> G (p.Met769Val)single nucleotide variantPathogenicrs193922103GRCh37Chr 13, 52532497: 52532497
2ATP7BNM_000053.3(ATP7B): c.2930C> T (p.Thr977Met)single nucleotide variantPathogenicrs72552255GRCh37Chr 13, 52520550: 52520550
3ATP7BNM_000053.3(ATP7B): c.3659C> T (p.Thr1220Met)single nucleotide variantPathogenicrs193922107GRCh37Chr 13, 52513227: 52513227
4ATP7BNM_000053.3(ATP7B): c.3955C> T (p.Arg1319Ter)single nucleotide variantPathogenicrs193922109GRCh37Chr 13, 52511478: 52511478
5ATP7BNM_000053.3(ATP7B): c.845delT (p.Leu282Profs)deletionPathogenicrs193922111GRCh37Chr 13, 52548511: 52548511
6ATP7BNM_000053.3(ATP7B): c.3443T> C (p.Ile1148Thr)single nucleotide variantPathogenicrs60431989GRCh37Chr 13, 52515330: 52515330
7ATP7BATP7B, 7-BP DEL, NT2010deletionPathogenic
8ATP7BATP7B, 1-BP DEL, 2337CdeletionPathogenic
9ATP7BATP7B, 1-BP INS, NT2487insertionPathogenic
10ATP7BNM_000053.3(ATP7B): c.3207C> A (p.His1069Gln)single nucleotide variantPathogenicrs76151636GRCh37Chr 13, 52518281: 52518281
11ATP7BNM_000053.3(ATP7B): c.3796G> A (p.Gly1266Arg)single nucleotide variantPathogenicrs121907992GRCh37Chr 13, 52511719: 52511719
12ATP7BNM_000053.3(ATP7B): c.1708-1G> Csingle nucleotide variantPathogenicrs137853280GRCh37Chr 13, 52539170: 52539170
13ATP7BNM_000053.3(ATP7B): c.2621C> T (p.Ala874Val)single nucleotide variantPathogenicrs121907994GRCh37Chr 13, 52524252: 52524252
14ATP7BNM_000053.3(ATP7B): c.2333G> T (p.Arg778Leu)single nucleotide variantPathogenicrs28942074GRCh37Chr 13, 52532469: 52532469
15ATP7BATP7B, 15-BP DEL, NT-441deletionPathogenic
16ATP7BATP7B, 3-BP DEL, 3892GTCdeletionPathogenic
17ATP7BNM_000053.3(ATP7B): c.2293G> A (p.Asp765Asn)single nucleotide variantPathogenicrs28942075GRCh37Chr 13, 52532509: 52532509
18ATP7BNM_000053.3(ATP7B): c.2827G> A (p.Gly943Ser)single nucleotide variantPathogenicrs28942076GRCh37Chr 13, 52523836: 52523836
19ATP7BNM_000053.3(ATP7B): c.2755C> G (p.Arg919Gly)single nucleotide variantPathogenicrs121907993GRCh37Chr 13, 52523908: 52523908
20ATP7BATP7B, 1-BP DEL, 2511AdeletionPathogenic
21ATP7BNM_000053.3(ATP7B): c.3809A> G (p.Asn1270Ser)single nucleotide variantPathogenicrs121907990GRCh37Chr 13, 52511706: 52511706
22ATP7BNM_000053.3(ATP7B): c.2906G> A (p.Arg969Gln)single nucleotide variantPathogenicrs121907996GRCh37Chr 13, 52520574: 52520574
23ATP7BNM_000053.3(ATP7B): c.2297C> G (p.Thr766Arg)single nucleotide variantPathogenicrs121907997GRCh37Chr 13, 52532505: 52532505
24ATP7BNM_000053.3(ATP7B): c.1934T> G (p.Met645Arg)single nucleotide variantPathogenicrs121907998GRCh37Chr 13, 52535985: 52535985
25ATP7BNM_000053.3(ATP7B): c.3443T> C (p.Ile1148Thr)single nucleotide variantPathogenicrs60431989GRCh37Chr 13, 52515330: 52515330
26ATP7BNM_000053.3(ATP7B): c.865C> T (p.Gln289Ter)single nucleotide variantPathogenicrs121907999GRCh37Chr 13, 52548491: 52548491
27ATP7BNM_000053.3(ATP7B): c.2123T> C (p.Leu708Pro)single nucleotide variantPathogenicrs121908000GRCh37Chr 13, 52532679: 52532679
28ATP7BNM_000053.3(ATP7B): c.2071G> A (p.Gly691Arg)single nucleotide variantPathogenicrs121908001GRCh37Chr 13, 52534334: 52534334

Expression for genes affiliated with Wilson Disease

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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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

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Sources:
51PathCards, 56Reactome, 39NCBI BioSystems Database, 31KEGG, 52PharmGKB
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Pathways related to Wilson Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6ATP7A, ATP7B
2
Show member pathways
calcium transport I39
9.6ATP7A, ATP7B
3
Show member pathways
9.5CP, SLC31A1
49.5SLC31A1, ATP7A
59.1SLC31A1, ATP7A, ATP7B
6
Show member pathways
8.7SLC31A1, CP, ATP7A, ATP7B

Compounds for genes affiliated with Wilson Disease

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Sources:
46Novoseek, 52PharmGKB, 12DrugBank, 25HMDB, 62Tocris Bioscience
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Compounds related to Wilson Disease according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1tetrathiomolybdate4610.0CP, ATP7B
2acyl phosphate469.9ATP7A, ATP7B
3copper histidine469.9CP, ATP7A
4copper(i)469.9ATP7B, ATP7A
5platinum46 5210.4SLC31A1, ATP7A, ATP7B
6oxaliplatin46 52 1211.4ATP7B, ATP7A, SLC31A1
7fe2+469.4HFE, CP
8carboplatin46 52 1211.4SLC31A1, ATP7A, ATP7B
9superoxide46 2510.3ATP7B, ATP7A, CP
10sialic acid469.3CP, ATP7A
11uric acid46 2510.2HFE, CP
12cisplatin46 52 62 1212.2SLC31A1, ATP7A, ATP7B
13lead468.9HFE, ARSA
14Water258.8ARSA, CP, ATP7A, ATP7B
15alanine468.6ARSA, HFE, CP
16iron46 259.6ATP7B, CP, HFE, SLC31A1
17zinc46 259.6ATP7B, ATP7A, CP, HFE
18cysteine468.4ARSA, HFE, CP, ATP7B
19aspartate468.1ATP7B, ATP7A, CP, HFE, ARSA
20copper46 258.7SLC31A1, HFE, COMMD1, CP, ATP7A, ATP7B

GO Terms for genes affiliated with Wilson Disease

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Sources:
17Gene Ontology
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Cellular components related to Wilson Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1basolateral plasma membraneGO:0163239.6ATP7A, ATP7B
2late endosomeGO:0057709.5ATP7A, ATP7B
3trans-Golgi networkGO:0058029.3ATP7A, ATP7B
4perinuclear region of cytoplasmGO:0484718.8HFE, ATP7A, ATP7B

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

idNameGO IDScoreTop Affiliating Genes
1copper ion importGO:0156779.7ATP7A, ATP7B
2cellular copper ion homeostasisGO:0068789.5ATP7A, ATP7B
3lactationGO:0075959.3ATP7A, ATP7B
4cellular iron ion homeostasisGO:0068799.2HFE, CP
5copper ion transportGO:0068258.8SLC31A1, CP, ATP7A, ATP7B
6transmembrane transportGO:0550858.7ATP7B, ATP7A, CP, SLC31A1

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

idNameGO IDScoreTop Affiliating Genes
1copper ion transmembrane transporter activityGO:0053759.5SLC31A1, ATP7A
2copper-exporting ATPase activityGO:0040089.3ATP7A, ATP7B
3copper ion bindingGO:0055078.6COMMD1, CP, ATP7A, ATP7B

Products for genes affiliated with Wilson Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Wilson Disease

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet