Wilson Disease

Alternative Names

WND
WD
Hepatolenticular Degeneration

Associated Genes

ATPase, Cu(2+)-Transporting, Beta Polypeptide

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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

277900

Mode of Inheritance

Autosomal recessive

Gene Map Locus

13q14.3

Description

Wilson disease (WD) is an autosomal recessive disorder, characterized by systemic copper overload, resulting in accumulation of copper in body tissues, especially in the liver and brain. The disease is a manifestation of an excessive absorption of copper from the small intestine and decreased excretion of copper by the liver.

The ATBP7 gene, located on chromosome 13, codes for a P-type ATPase (ATPase, Cu(2+)-Transporting, Beta Polypeptide), which functions in the export of copper out of the cells, such as in the efflux of hepatic copper into the bile, and its incorporation into ceruloplasmin. Mutated copies of the ATPB7 gene result in the production of defective transport protein, which is unable to properly transport copper into the bile. Copper, therefore, builds up in the body tissues causing the toxicity noticed in WD.

Epidemiology in the Arab World

View Map

Subject ID	Country	Sex	Family History	Parental Consanguinity	HPO Terms	Variant	Zygosity	Mode of Inheritance	Reference	Remarks
277900.1	Egypt				Chronic hepatitis Chronic hepatitis	NM_000053.3:c.509delA		Autosomal, Recessive	Abdel Ghaffar et al. 2011
277900.2	Egypt				Chronic hepatitis; Tremor; Dysarthria Chronic hepatitis; Tremor; Dysarthria	NM_000053.3:c.1646T>C	Homozygous	Autosomal, Recessive	Abdel Ghaffar et al. 2011
277900.3	Egypt				Chronic hepatitis Chronic hepatitis	NM_000053.3:c.1924G>C	Homozygous	Autosomal, Recessive	Abdel Ghaffar et al. 2011
277900.4	Egypt				Asymptomatic Asymptomatic	NM_000053.4:c.2304dup	Homozygous	Autosomal, Recessive	Abdel Ghaffar et al. 2011
277900.5	Egypt				Chronic hepatitis Chronic hepatitis	NM_000053.3:c.2293G>A	Homozygous	Autosomal, Recessive	Abdel Ghaffar et al. 2011
277900.6	Egypt				Chronic hepatitis; Tremor; Dysarthria Chronic hepatitis; Tremor; Dysarthria	NM_000053.3:c.2993G>A	Homozygous	Autosomal, Recessive	Abdel Ghaffar et al. 2011
277900.7	Egypt				Acute hepatitis Acute hepatitis	NM_000053.3:c.2997insC	Homozygous	Autosomal, Recessive	Abdel Ghaffar et al. 2011
277900.9	Egypt				Acute hepatitis Acute hepatitis	NM_000053.3:c.3731delT	Homozygous	Autosomal, Recessive	Abdel Ghaffar et al. 2011
277900.10	Egypt				Chronic hepatitis Chronic hepatitis	NM_000053.3:c.4022G>A	Homozygous	Autosomal, Recessive	Abdel Ghaffar et al. 2011
277900.13	Egypt				Chronic hepatitis; Tremor; Dysarth... Chronic hepatitis; Tremor; Dysarthria	NM_000053.3:c.3734G>T	Homozygous	Autosomal, Recessive	Abdel Ghaffar et al. 2011
277900.16	Egypt				Chronic hepatitis; Tremor; Dys... Chronic hepatitis; Tremor; Dysarthria	NM_000053.3:c.2450delA	Homozygous	Autosomal, Recessive	Abdel Ghaffar et al. 2011
277900.17	Egypt				Tremor; Dysarthria Tremor; Dysarthria	NM_000053.3:c.1186G>T	Homozygous	Autosomal, Recessive	Abdel Ghaffar et al. 2011
277900.18	Egypt				Acute hepatitis; Acute hepatitis;	NM_000053.3:c.3904-2A>G	Homozygous	Autosomal, Recessive	Abdel Ghaffar et al. 2011
277900.19	Egypt				Chronic hepatitis Chronic hepatitis	NM_000053.3:c.3904-2A>G	Homozygous	Autosomal, Recessive	Abdel Ghaffar et al. 2011
277900.20	Egypt				Acute hepatitis; Acute hepatitis;	NM_000053.3:c.3955C>T	Homozygous	Autosomal, Recessive	Abdel Ghaffar et al. 2011
277900.21	Egypt					NM_000053.3:c.2108G>A	Homozygous	Autosomal, Recessive	Abdelghaffar et al. 2008	Wilson Disease
277900.22	Egypt					NM_000053.4:c.2304dup	Homozygous	Autosomal, Recessive	Abdelghaffar et al. 2008	Wilson Disease
277900.23	Egypt					NM_000053.4:c.2304dup	Heterozygous	Autosomal, Recessive	Abdelghaffar et al. 2008	Wilson Disease
277900.24	Egypt					NM_000053.3:c.3207C>T	Heterozygous	Autosomal, Recessive	Abdelghaffar et al. 2008	Wilson Disease
277900.25	Egypt					NM_000053.3:c.1772G>A	Heterozygous	Autosomal, Recessive	Abdelghaffar et al. 2008	Wilson Disease
277900.26	Egypt					NM_000053.3:c.2634T>A/G	Heterozygous	Autosomal, Recessive	Abdelghaffar et al. 2008	Wilson Disease
277900.27	Egypt					NM_000053.3:c.3443T>C	Heterozygous	Autosomal, Recessive	Abdelghaffar et al. 2008	Wilson Disease
277900.28	Egypt					NM_000053.3:c.3659C>T	Heterozygous	Autosomal, Recessive	Abdelghaffar et al. 2008	Wilson Disease
277900.29	Egypt					NM_000053.3:c.3683G>C	Homozygous	Autosomal, Recessive	Abdelghaffar et al. 2008	Wilson Disease
277900.30.1	Lebanon	Male	Yes	Yes	Cirrhosis; Kayser-Fleischer ring; Incr... Cirrhosis; Kayser-Fleischer ring; Increased urinary copper concentration;	NM_000053.3:c.2071G>A	Homozygous	Autosomal, Recessive	Barada et al, 2007	Sibling of 277900.29...
277900.30.2	Lebanon	Female	Yes	Yes	Hepatitis; Hepatitis;	NM_000053.3:c.2071G>A	Homozygous	Autosomal, Recessive	Barada et al, 2007	Detected by screenin...
277900.30.3	Lebanon	Female	Yes	Yes	Hepatitis; Hepatitis;	NM_000053.3:c.2071G>A	Homozygous	Autosomal, Recessive	Barada et al, 2007	Detected by screenin...
277900.30.4	Lebanon	Male	Yes	Yes	Hepatitis; Hepatitis;	NM_000053.3:c.2071G>A	Homozygous	Autosomal, Recessive	Barada et al, 2007	Detected by screenin...
277900.30.5	Lebanon	Male	Yes	Yes	Cirrhosis; Kayser-Fleischer ring; In... Cirrhosis; Kayser-Fleischer ring; Increased urinary copper concentration;	NM_000053.3:c.2071G>A	Homozygous	Autosomal, Recessive	Barada et al, 2007	First cousin once re...
277900.31.1	Lebanon	Female	Yes	No	Elevated hepatic transaminase; Hepatome... Elevated hepatic transaminase; Hepatomegaly; Chronic hepatitis ;	NM_000053.3:c.2817G>T	Homozygous	Autosomal, Recessive	Usta et al. 2012	Sibling of 277900.30...
277900.31.2	Lebanon	Male	Yes	No	Elevated hepatic transaminase; Cirrhosi... Elevated hepatic transaminase; Cirrhosis ; ;	NM_000053.3:c.2817G>T	Homozygous	Autosomal, Recessive	Usta et al. 2012	Sibling of 277900.30...
277900.31.3	Lebanon	Male	Yes	No	Elevated hepatic transaminase; Cirrhosi... Elevated hepatic transaminase; Cirrhosis ; ;	NM_000053.3:c.2817G>T	Homozygous	Autosomal, Recessive	Usta et al. 2012	Sibling of 277900.30...
277900.32.1	Lebanon		Yes	Yes	Hepatosplenomegaly; Cirrhosis; Ascites... Hepatosplenomegaly; Cirrhosis; Ascites; Excessive salivation; Intention tremor; Slurred speech	NM_000053.3:c.2817G>T	Homozygous	Autosomal, Recessive	Usta et al. 2012	Has affected decease...
277900.33	Saudi Arabia	Male	No	Yes	Excessive salivation; Dystonia; Hypera... Excessive salivation; Dystonia; Hyperactive deep tendon reflexes; Decreased circulating ceruloplasmin concentration; Elevated hepatic transaminase ;	NM_000053.3:c.4021G>A	Homozygous	Autosomal, Recessive	Majumdar et al. 2004
277900.34.1	Lebanon	Female	Yes	Yes	Hepatomegaly ; Decreased circulating ce... Hepatomegaly ; Decreased circulating ceruloplasmin concentration	NM_000053.4:c.2304dup	Homozygous	Autosomal, Recessive	Usta et al, 2014
277900.34.2	Lebanon	Male	Yes	No	Slurred speech ; Ataxia ; Tremor ; Ar... Slurred speech ; Ataxia ; Tremor ; Arthralgia ; Kayser-Fleischer ring ; Decreased circulating ceruloplasmin concentration	NM_000053.4:c.2304dup	Homozygous	Autosomal, Recessive	Usta et al, 2014	Relative of 277900.3...
277900.34.3	Lebanon	Male	Yes	No	Cirrhosis ; Kayser-Fleischer ring ; ... Cirrhosis ; Kayser-Fleischer ring ; Decreased circulating ceruloplasmin concentration ; Death in early adulthood	NM_000053.4:c.2304dup, NM_000053.4:c.3007G>A	Heterozygous	Autosomal, Recessive	Usta et al, 2014	Relative of 277900.3...
277900.34.4	Lebanon	Female	Yes	No	Cirrhosis ; Arthropathy ; Kayser-Fleis... Cirrhosis ; Arthropathy ; Kayser-Fleischer ring ; Decreased circulating ceruloplasmin concentration	NM_000053.4:c.2304dup, NM_000053.4:c.3007G>A	Heterozygous	Autosomal, Recessive	Usta et al, 2014	Relative of 277900.3...
277900.34.5	Lebanon	Female	Yes	Yes	Cirrhosis ; Kayser-Fleischer ring Cirrhosis ; Kayser-Fleischer ring	NM_000053.4:c.2304dup, NM_000053.4:c.3007G>A	Heterozygous	Autosomal, Recessive	Usta et al, 2014	Relative of 277900.3...
277900.34.6	Lebanon	Female	Yes	Yes	Kayser-Fleischer ring ; Decreased circu... Kayser-Fleischer ring ; Decreased circulating ceruloplasmin concentration	NM_000053.4:c.2304dup, NM_000053.4:c.3007G>A	Heterozygous	Autosomal, Recessive	Usta et al, 2014	Relative of 277900.3...
277900.34.7	Lebanon	Female	Yes	Yes	Hepatomegaly ; Decreased circulating ce... Hepatomegaly ; Decreased circulating ceruloplasmin concentration	NM_000053.4:c.2304dup	Homozygous	Autosomal, Recessive	Usta et al, 2014	Relative of 277900.3...
277900.34.8	Lebanon	Male	Yes	No	Choreoathetosis ; Tremor ; Rigidity ; ... Choreoathetosis ; Tremor ; Rigidity ; Kayser-Fleischer ring	NM_000053.4:c.2304dup	Homozygous	Autosomal, Recessive	Usta et al, 2014	Relative of 277900.3...
277900.34.9	Lebanon	Male	Yes	Yes	Decreased circulating ceruloplasmin conc... Decreased circulating ceruloplasmin concentration ; Hepatic steatosis	NM_000053.4:c.2304dup	Homozygous	Autosomal, Recessive	Usta et al, 2014	Relative of 277900.3...
277900.35	Lebanon	Female			Cirrhosis; Suicidal ideation; Kayser-F... Cirrhosis; Suicidal ideation; Kayser-Fleischer ring; Increased urinary copper concentration	NM_000053.3:c.2532delA	Homozygous	Autosomal, Recessive	Barada et al. 2017
277900.36	Lebanon	Male			Cirrhosis; Increased urinary copper con... Cirrhosis; Increased urinary copper concentration	NM_000053.4:c.2304dup	Homozygous	Autosomal, Recessive	Barada et al. 2017
277900.37.1	Lebanon	Female	Yes		Neurodevelopmental delay; Kayser-Fleisc... Neurodevelopmental delay; Kayser-Fleischer ring; Increased urinary copper concentration	NM_000053.3:c.3809A>G	Homozygous	Autosomal, Recessive	Barada et al. 2017
277900.37.2	Lebanon	Female	Yes		Neurodevelopmental delay; Kayser-Fleis... Neurodevelopmental delay; Kayser-Fleischer ring; Increased urinary copper concentration	NM_000053.3:c.3809A>G	Homozygous	Autosomal, Recessive	Barada et al. 2017	Sibling of 277900.37...
277900.38	Lebanon	Female			Abnormality of the liver; Dysarthria; ... Abnormality of the liver; Dysarthria; Dystonia; Increased urinary copper concentration	NM_000053.3:c.3809A>G	Homozygous	Autosomal, Recessive	Barada et al. 2017
277900.39	Lebanon	Male			Delayed speech and language development;... Delayed speech and language development; Increased urinary copper concentration	NM_000053.3:c.3955C>T	Homozygous	Autosomal, Recessive	Barada et al. 2017
277900.40	Lebanon	Male			Chronic hepatitis; Portal hypertension;... Chronic hepatitis; Portal hypertension; Dystonia; Dysarthria; Head tremor; Kayser-Fleischer ring; Increased urinary copper concentration	NM_000053.3:c.3955C>T, NM_000053.4:c.3275C>T	Heterozygous	Autosomal, Recessive	Barada et al. 2017
277900.41.1	Lebanon	Female	Yes		Cirrhosis; Suicidal ideation; Behavi... Cirrhosis; Suicidal ideation; Behavioral abnormality; Kayser-Fleischer ring; Increased urinary copper concentration	NM_000053.3:c.3809A>G	Homozygous	Autosomal, Recessive	Barada et al. 2017
277900.41.2	Lebanon	Female	Yes		Cirrhosis; Kayser-Fleischer ring; Inc... Cirrhosis; Kayser-Fleischer ring; Increased urinary copper concentration	NM_000053.3:c.3809A>G	Homozygous	Autosomal, Recessive	Barada et al. 2017	Sibling of 277900.41...
277900.41.3	Lebanon	Female	Yes		Cirrhosis; Ascites; Kayser-Fleischer r... Cirrhosis; Ascites; Kayser-Fleischer ring; Increased urinary copper concentration	NM_000053.3:c.3809A>G	Homozygous	Autosomal, Recessive	Barada et al. 2017	Sibling of 277900.41...
277900.42.1	Lebanon	Male	Yes		Cirrhosis; Ascites; Kayser-Fleischer ... Cirrhosis; Ascites; Kayser-Fleischer ring; Increased urinary copper concentration	NM_000053.3:c.3818C>T	Homozygous	Autosomal, Recessive	Barada et al. 2017
277900.42.2	Lebanon	Male	Yes		Increased urinary copper concentration Increased urinary copper concentration	NM_000053.3:c.3818C>T	Homozygous	Autosomal, Recessive	Barada et al. 2017	Sibling of 277900.42...
277900.G.1	Egypt				Chronic hepatitis; Tremor; ... Chronic hepatitis; Tremor; Dysarthria	NM_000053.3:c.1186G>T	Homozygous	Autosomal, Recessive	Abdel Ghaffar et al. 2011	2 patients
277900.G.2	Egypt				Chronic hepatitis; Tremor; Dysarth... Chronic hepatitis; Tremor; Dysarthria	NM_000053.3:c.330delA	Homozygous	Autosomal, Recessive	Abdel Ghaffar et al. 2011	2 patients
277900.G.4	Egypt				Chronic hepatitis Chronic hepatitis	NM_000053.3:c.2532delA	Homozygous	Autosomal, Recessive	Abdel Ghaffar et al. 2011	2 patients
277900.G.5	Egypt				Chronic hepatitis Chronic hepatitis	NM_000053.3:c.2930C>T	Homozygous	Autosomal, Recessive	Abdel Ghaffar et al. 2011	2 patients
277900.G.7	Egypt				Chronic hepatitis Chronic hepatitis	NM_000053.3:c.3373_3377delATAinsTCT	Homozygous	Autosomal, Recessive	Abdel Ghaffar et al. 2011	4 patients
277900.G.8	Egypt				Chronic hepatitis; Tremor; Dysar... Chronic hepatitis; Tremor; Dysarthria	NM_000053.3:c.3904-2A>G	Homozygous	Autosomal, Recessive	Abdel Ghaffar et al. 2011	2 patients
277900.G.9	Egypt				Chronic hepatitis; Tremor; Dys... Chronic hepatitis; Tremor; Dysarthria	NM_000053.3:c.3809A>G	Homozygous	Autosomal, Recessive	Abdel Ghaffar et al. 2011	2 patients
277900.G.10	Egypt				Chronic hepatitis Chronic hepatitis	NM_000053.3:c.3818C>T	Homozygous	Autosomal, Recessive	Abdel Ghaffar et al. 2011	3 patients
277900.G.11	Egypt				Chronic hepatitis; Tremor; D... Chronic hepatitis; Tremor; Dysarthria	NM_000053.3:c.3994A>G	Homozygous	Autosomal, Recessive	Abdel Ghaffar et al. 2011	2 patients
277900.G.12	Egypt				Chronic hepatitis; Tremor; ... Chronic hepatitis; Tremor; Dysarthria	NM_000053.3:c.3955C>T	Homozygous	Autosomal, Recessive	Abdel Ghaffar et al. 2011	2 patients
277900.G.13	Egypt				Chronic hepatitis Chronic hepatitis	NM_000053.3:c.4021G>C	Homozygous	Autosomal, Recessive	Abdel Ghaffar et al. 2011	2 patients
277900.G.14	Egypt				Chronic hepatitis Chronic hepatitis	NM_000053.3:c.2332C>G	Homozygous	Autosomal, Recessive	Abdel Ghaffar et al. 2011	2 patients
277900.G.15	Egypt					NM_000053.3:c.2108G>A	Homozygous	Autosomal, Recessive	Abdelghaffar et al. 2008	2 patients with Wils...
277900.G.16	Egypt					NM_000053.3:c.3207C>T	Homozygous	Autosomal, Recessive	Abdelghaffar et al. 2008	3 patients with Wils...
277900.G.19.1	Saudi Arabia				Decreased circulating ceruloplasmin conc... Decreased circulating ceruloplasmin concentration; Increased urinary copper concentration	NM_000053.3:c.4195del	Homozygous	Autosomal, Recessive	Majumdar et al. 2003	16 patients with Wil...

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Other Reports

Kuwait

Fido and Mughaiseeb (1994) described a 14-year old girl with Wilson's disease who was erroneously diagnosed with catatonic schizophrenia. They recommended that psychiatric patients under the age of 40 presenting with neurological symptoms should be screened for Wilson's disease

Oman

Mirza et al. (1994) were the first to report Wilson's disease in Oman in an 18-year old Omani female. (Mirza. Wilson's disease in Oman, report of an Omani family. Oman Med J. 1994; 11(2):32-4.)

Joshi et al. (2002) carried out a retrospective analysis of all patients born with inborn errors of metabolism in Oman between June 1998 and December 2000. Among the 82 patients, two children were diagnosed with Wilson's disease [CTGA Database Editor's note: Computed annual incidence rate is 1.6/100,000].

Palestine

Passwell et al. (1977) observed that Arab patients with Wilson Disease show an earlier age of onset and more severe course than Jewish patients. The overall sex ratio of patients was nearly 1:1, and genetic analysis of 20 families confirmed an autosomal recessive mode of inheritance.

Saudi Arabia

Al Jumah et al. (2004) screened 56 Saudi Arabian Wilson Disease patients (39 symptomatic and 17 pre-symptomatic siblings) for mutations in the ATP7B gene. disease-causing mutations in three exons (exons 8, 19 and 21) were detected in 28 patients (50%).

External Links

http://digestive.niddk.nih.gov/ddiseases/pubs/wilson/index.htm http://ghr.nlm.nih.gov/condition=wilsondisease http://www.emedicine.com/med/topic2413.htm http://www.genetests.org/profiles/wilson http://www.nlm.nih.gov/medlineplus/ency/article/000785.htm http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=905 http://www.wilsonsdisease.org/

Contributors

Pratibha Nair: 04.06.2014
Ghazi O. Tadmouri: 23.07.2013
Pratibha Nair: 04.07.2013
Pratibha Nair: 19.12.2012
Pratibha Nair: 11.02.2008
Ghazi O. Tadmouri: 05.02.2008
Pratibha Nair: 25.06.2007
Eiman Ibrahim: 22.06.2007

Edit History

Pratibha Nair: 02.05.2021
Sayeeda Hana: 09.03.2021
Sayeeda Hana: 01.03.2021
Pratibha Nair: 27.12.2018
Pratibha Nair: 14.04.2015
Pratibha Nair: 28.12.2014
Pratibha Nair: 25.07.2013
Pratibha Nair: 15.07.2013
Pratibha Nair: 27.12.2012
Pratibha Nair: 20.06.2012
Tasneem Obeid: 01.05.2008
Tasneem Obeid: 06.03.2008
Tasneem Obeid: 07.02.2008
Sarah Al-Haj Ali: 20.11.2004
Sarah Al-Haj Ali: 09.11.2004
Ghazi O. Tadmouri: 28.02.2004