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Wilson disease(WD)

MedGen UID:
42426
Concept ID:
C0019202
Disease or Syndrome
Synonyms: Hepatolenticular degeneration; WD; Wilson's disease
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Wilson's disease (88518009); Hepatolenticular degeneration syndrome (88518009); Copper storage disease (88518009); Wilson disease (88518009); Westphal-Strumpell syndrome (190823004); Cerebral pseudosclerosis (192640001); Hepatocerebral degeneration (88518009); Hepatolenticular degeneration (88518009); Kinnier-Wilson disease (88518009); Neurohepatic degeneration (88518009); Progressive lenticular degeneration (88518009); WD - Wilson's disease (88518009)
 
Gene (location): ATP7B (13q14.3)
OMIM®: 277900
Orphanet: ORPHA905

Disease characteristics

Excerpted from the GeneReview: Wilson Disease
Wilson disease is a disorder of copper metabolism that can present with hepatic, neurologic, or psychiatric disturbances, or a combination of these, in individuals ranging from age three years to older than 50 years; symptoms vary among and within families. Liver disease includes recurrent jaundice, simple acute self-limited hepatitis-like illness, autoimmune-type hepatitis, fulminant hepatic failure, or chronic liver disease. Neurologic presentations include movement disorders (tremors, poor coordination, loss of fine-motor control, chorea, choreoathetosis) or rigid dystonia (mask-like facies, rigidity, gait disturbance, pseudobulbar involvement). Psychiatric disturbance includes depression, neurotic behaviors, disorganization of personality, and, occasionally, intellectual deterioration. Kayser-Fleischer rings, frequently present, result from copper deposition in Descemet's membrane of the cornea and reflect a high degree of copper storage in the body. [from GeneReviews]
Authors:
Karl Heinz Weiss   view full author information

Additional descriptions

From OMIM
Wilson disease is an autosomal recessive disorder characterized by dramatic build-up of intracellular hepatic copper with subsequent hepatic and neurologic abnormalities. De Bie et al. (2007) provided a detailed review of the molecular pathogenesis of Wilson disease.  http://www.omim.org/entry/277900
From GHR
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.Liver disease is typically the initial feature of Wilson disease in affected children and young adults; individuals diagnosed at an older age usually do not have symptoms of liver problems, although they may have very mild liver disease. The signs and symptoms of liver disease include yellowing of the skin or whites of the eyes (jaundice), fatigue, loss of appetite, and abdominal swelling.Nervous system or psychiatric problems are often the initial features in individuals diagnosed in adulthood and commonly occur in young adults with Wilson disease. Signs and symptoms of these problems can include clumsiness, tremors, difficulty walking, speech problems, impaired thinking ability, depression, anxiety, and mood swings.In many individuals with Wilson disease, copper deposits in the front surface of the eye (the cornea) form a green-to-brownish ring, called the Kayser-Fleischer ring, that surrounds the colored part of the eye. Abnormalities in eye movements, such as a restricted ability to gaze upwards, may also occur.  https://ghr.nlm.nih.gov/condition/wilson-disease

Clinical features

Hemolytic anemia
MedGen UID:
1916
Concept ID:
C0002878
Disease or Syndrome
A condition of inadequate circulating red blood cells (ANEMIA) or insufficient HEMOGLOBIN due to premature destruction of red blood cells (ERYTHROCYTES).
Coma
MedGen UID:
1054
Concept ID:
C0009421
Disease or Syndrome
A profound state of unconsciousness associated with depressed cerebral activity from which the individual cannot be aroused. Coma generally occurs when there is dysfunction or injury involving both cerebral hemispheres or the brain stem RETICULAR FORMATION.
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
A symptom referring to difficulty in swallowing. It may be observed in patients with stroke, motor neuron disorders, cancer of the throat or mouth, head and neck injuries, Parkinson disease, and multiple sclerosis.
Drooling
MedGen UID:
8484
Concept ID:
C0013132
Finding
Excessive production of saliva.
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Disorders of speech articulation caused by imperfect coordination of pharynx, larynx, tongue, or face muscles. This may result from CRANIAL NERVE DISEASES; NEUROMUSCULAR DISEASES; CEREBELLAR DISEASES; BASAL GANGLIA DISEASES; BRAIN STEM diseases; or diseases of the corticobulbar tracts (see PYRAMIDAL TRACTS). The cortical language centers are intact in this condition. (From Adams et al., Principles of Neurology, 6th ed, p489)
Dystonia
MedGen UID:
3940
Concept ID:
C0013421
Sign or Symptom
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Esophageal varix
MedGen UID:
5027
Concept ID:
C0014867
Finding
Abnormally dilated veins of the esophagus.
Glycosuria
MedGen UID:
42267
Concept ID:
C0017979
Finding
An increased concentration of glucose in the urine.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormal enlargement of the liver.
Hypercalciuria
MedGen UID:
43775
Concept ID:
C0020438
Disease or Syndrome
Abnormally high level of calcium in the urine.
Hypoparathyroidism
MedGen UID:
6985
Concept ID:
C0020626
Disease or Syndrome
A condition caused by a deficiency of PARATHYROID HORMONE (or PTH). It is characterized by HYPOCALCEMIA and hyperphosphatemia. Hypocalcemia leads to TETANY. The acquired form is due to removal or injuries to the PARATHYROID GLANDS. The congenital form is due to mutations of genes, such as TBX1; (see DIGEORGE SYNDROME); CASR encoding CALCIUM-SENSING RECEPTOR; or PTH encoding parathyroid hormone.
Cirrhosis
MedGen UID:
7368
Concept ID:
C0023890
Disease or Syndrome
A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.
Osteoarthritis
MedGen UID:
45244
Concept ID:
C0029408
Disease or Syndrome
Osteoarthritis (OA) is a degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis (Meulenbelt et al., 2006). Clinical problems include pain and joint stiffness often leading to significant disability and joint replacement. Osteoarthritis exhibits a clear predilection for specific joints; it appears most commonly in the hip and knee joints and lumbar and cervical spine, as well as in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints of the hand; however, patients with osteoarthritis may have 1, a few, or all of these sites affected (Stefansson et al., 2003). According to a conservative estimate, greater than 70% of the population of the United States at age 65 years is affected by the disease, reflecting its age dependence. Genetic Heterogeneity of Susceptibility to Osteoarthritis Susceptibility to osteoarthritis has been associated with variation in other genes: OS2 (140600) with variation in the MATN3 gene (602109) on chromosome 2p24; OS3 (607850) with variation in the ASPN gene (608135) on chromosome 9q22; and OS5 (612400) with variation in the GDF5 gene (601146) on chromosome 20q11. Other susceptibility loci for osteoarthritis have been mapped to chromosomes 2q33 (OS4; 610839) and 3p24 (OS6; 612401).
Osteomalacia
MedGen UID:
14533
Concept ID:
C0029442
Disease or Syndrome
A metabolic bone disease that results from either a deficiency in vitamin D, or an abnormality in the metabolism of vitamin D, or a deficiency of calcium in the diet. The most common symptoms are bone pain and muscle weakness. When it occurs in children it is commonly referred to as rickets. (Diagnostic Surgical Pathology, 3rd ed.) --2003
Generalized osteoporosis
MedGen UID:
14535
Concept ID:
C0029456
Disease or Syndrome
A condition of reduced bone mass, with decreased cortical thickness and a decrease in the number and size of the trabeculae of cancellous bone (but normal chemical composition), resulting in increased fracture incidence. Osteoporosis is classified as primary (Type 1, postmenopausal osteoporosis; Type 2, age-associated osteoporosis; and idiopathic, which can affect juveniles, premenopausal women, and middle-aged men) and secondary osteoporosis (which results from an identifiable cause of bone mass loss).
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Hepatic failure
MedGen UID:
88444
Concept ID:
C0085605
Disease or Syndrome
A disorder characterized by the inability of the liver to metabolize chemicals in the body. Causes include cirrhosis and drug-induced hepatotoxicity. Signs and symptoms include jaundice and encephalopathy. Laboratory test results reveal abnormal plasma levels of ammonia, bilirubin, lactic dehydrogenase, and alkaline phosphatase.
Renal tubular dysfunction
MedGen UID:
57484
Concept ID:
C0151747
Disease or Syndrome
disease of the kidney structure called tubule
Aminoaciduria
MedGen UID:
116067
Concept ID:
C0238621
Disease or Syndrome
An increased concentration of an amino acid in the urine.
Personality changes
MedGen UID:
66817
Concept ID:
C0240735
Sign or Symptom
A noticeable change in a person's behavior and thinking. Causes include depression, drug or alcohol abuse, brain injuries, brain tumors, and Alzheimer's disease.
Hyperphosphaturia
MedGen UID:
78638
Concept ID:
C0268079
Disease or Syndrome
An increased excretion of phosphates in the urine.
Nephrolithiasis
MedGen UID:
98227
Concept ID:
C0392525
Disease or Syndrome
Formation of stones in the KIDNEY.
Dementia
MedGen UID:
99229
Concept ID:
C0497327
Mental or Behavioral Dysfunction
A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
Chondrocalcinosis
MedGen UID:
154303
Concept ID:
C0553730
Disease or Syndrome
Presence of CALCIUM PYROPHOSPHATE in the connective tissues such as the cartilaginous structures of joints. When accompanied by GOUT-like symptoms, it is referred to as pseudogout.
Joint hypermobility
MedGen UID:
336793
Concept ID:
C1844820
Finding
The ability of a joint to move beyond its normal range of motion.
Poor motor coordination
MedGen UID:
338471
Concept ID:
C1848453
Finding
Atypical or prolonged hepatitis
MedGen UID:
338473
Concept ID:
C1848456
Disease or Syndrome
High nonceruloplasmin-bound serum copper
MedGen UID:
341229
Concept ID:
C1848459
Finding
An increased concentration of non ceruloplasmin bound copper in the blood.
MedGen UID:
429096
Concept ID:
CN006412

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Wilson disease in Orphanet.

Professional guidelines

PubMed

Albanese A, Asmus F, Bhatia KP, Elia AE, Elibol B, Filippini G, Gasser T, Krauss JK, Nardocci N, Newton A, Valls-Solé J
Eur J Neurol 2011 Jan;18(1):5-18. doi: 10.1111/j.1468-1331.2010.03042.x. PMID: 20482602
Roberts EA, Schilsky ML; American Association for Study of Liver Diseases (AASLD).
Hepatology 2008 Jun;47(6):2089-111. doi: 10.1002/hep.22261. PMID: 18506894

External

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

Recent clinical studies

Etiology

Kalita J, Naik S, Bhoi SK, Misra UK, Ranjan A, Kumar S
AJNR Am J Neuroradiol 2017 Jul;38(7):1343-1347. Epub 2017 May 11 doi: 10.3174/ajnr.A5207. PMID: 28495941
Graper ML, Schilsky ML
Handb Clin Neurol 2017;142:231-240. doi: 10.1016/B978-0-444-63625-6.00020-3. PMID: 28433107
Chang IJ, Hahn SH
Handb Clin Neurol 2017;142:19-34. doi: 10.1016/B978-0-444-63625-6.00003-3. PMID: 28433102Free PMC Article
van Meer S, de Man RA, van den Berg AP, Houwen RH, Linn FH, van Oijen MG, Siersema PD, van Erpecum KJ
J Gastroenterol Hepatol 2015 Mar;30(3):535-9. doi: 10.1111/jgh.12716. PMID: 25160780
Beinhardt S, Leiss W, Stättermayer AF, Graziadei I, Zoller H, Stauber R, Maieron A, Datz C, Steindl-Munda P, Hofer H, Vogel W, Trauner M, Ferenci P
Clin Gastroenterol Hepatol 2014 Apr;12(4):683-9. Epub 2013 Sep 25 doi: 10.1016/j.cgh.2013.09.025. PMID: 24076416

Diagnosis

Graper ML, Schilsky ML
Handb Clin Neurol 2017;142:231-240. doi: 10.1016/B978-0-444-63625-6.00020-3. PMID: 28433107
Chang IJ, Hahn SH
Handb Clin Neurol 2017;142:19-34. doi: 10.1016/B978-0-444-63625-6.00003-3. PMID: 28433102Free PMC Article
Ferenci P
Handb Clin Neurol 2017;142:171-180. doi: 10.1016/B978-0-444-63625-6.00014-8. PMID: 28433100
Haberal M, Akdur A, Moray G, Boyacioglu S, Torgay A, Arslan G, Arslan G, Ozdemir BH
Exp Clin Transplant 2017 Feb;15(Suppl 1):182-184. doi: 10.6002/ect.mesot2016.P64. PMID: 28260463
van Meer S, de Man RA, van den Berg AP, Houwen RH, Linn FH, van Oijen MG, Siersema PD, van Erpecum KJ
J Gastroenterol Hepatol 2015 Mar;30(3):535-9. doi: 10.1111/jgh.12716. PMID: 25160780

Therapy

Rupp C, Stremmel W, Weiss KH
Handb Clin Neurol 2017;142:225-230. doi: 10.1016/B978-0-444-63625-6.00019-7. PMID: 28433106
Pfeiffenberger J, Weiss KH, Stremmel W
Handb Clin Neurol 2017;142:205-209. doi: 10.1016/B978-0-444-63625-6.00017-3. PMID: 28433104
Haberal M, Akdur A, Moray G, Boyacioglu S, Torgay A, Arslan G, Arslan G, Ozdemir BH
Exp Clin Transplant 2017 Feb;15(Suppl 1):182-184. doi: 10.6002/ect.mesot2016.P64. PMID: 28260463
Schaefer M, Gotthardt DN, Didion C, Stremmel W, Weiss KH
J Clin Gastroenterol 2015 Aug;49(7):e61-3. doi: 10.1097/MCG.0000000000000248. PMID: 25291347
Weiss KH, Thurik F, Gotthardt DN, Schäfer M, Teufel U, Wiegand F, Merle U, Ferenci-Foerster D, Maieron A, Stauber R, Zoller H, Schmidt HH, Reuner U, Hefter H, Trocello JM, Houwen RH, Ferenci P, Stremmel W; EUROWILSON Consortium.
Clin Gastroenterol Hepatol 2013 Aug;11(8):1028-35.e1-2. Epub 2013 Mar 28 doi: 10.1016/j.cgh.2013.03.012. PMID: 23542331

Prognosis

Belousova OB, Okishev DN, Ignatova TM, Balashova MS, Boulygina ES
World Neurosurg 2017 Sep;105:1034.e1-1034.e6. Epub 2017 Jun 8 doi: 10.1016/j.wneu.2017.06.002. PMID: 28602929
Pfeiffenberger J, Mogler C, Gotthardt DN, Schulze-Bergkamen H, Litwin T, Reuner U, Hefter H, Huster D, Schemmer P, Członkowska A, Schirmacher P, Stremmel W, Cassiman D, Weiss KH
Liver Int 2015 May;35(5):1615-22. Epub 2014 Nov 23 doi: 10.1111/liv.12727. PMID: 25369181
Schaefer M, Gotthardt DN, Didion C, Stremmel W, Weiss KH
J Clin Gastroenterol 2015 Aug;49(7):e61-3. doi: 10.1097/MCG.0000000000000248. PMID: 25291347
van Meer S, de Man RA, van den Berg AP, Houwen RH, Linn FH, van Oijen MG, Siersema PD, van Erpecum KJ
J Gastroenterol Hepatol 2015 Mar;30(3):535-9. doi: 10.1111/jgh.12716. PMID: 25160780
Beinhardt S, Leiss W, Stättermayer AF, Graziadei I, Zoller H, Stauber R, Maieron A, Datz C, Steindl-Munda P, Hofer H, Vogel W, Trauner M, Ferenci P
Clin Gastroenterol Hepatol 2014 Apr;12(4):683-9. Epub 2013 Sep 25 doi: 10.1016/j.cgh.2013.09.025. PMID: 24076416

Clinical prediction guides

Kalita J, Naik S, Bhoi SK, Misra UK, Ranjan A, Kumar S
AJNR Am J Neuroradiol 2017 Jul;38(7):1343-1347. Epub 2017 May 11 doi: 10.3174/ajnr.A5207. PMID: 28495941
Ferenci P
Handb Clin Neurol 2017;142:171-180. doi: 10.1016/B978-0-444-63625-6.00014-8. PMID: 28433100
Haberal M, Akdur A, Moray G, Boyacioglu S, Torgay A, Arslan G, Arslan G, Ozdemir BH
Exp Clin Transplant 2017 Feb;15(Suppl 1):182-184. doi: 10.6002/ect.mesot2016.P64. PMID: 28260463
Kumar R, Ariöz C, Li Y, Bosaeus N, Rocha S, Wittung-Stafshede P
Biometals 2017 Feb;30(1):27-35. Epub 2016 Oct 15 doi: 10.1007/s10534-016-9976-7. PMID: 27744583Free PMC Article
van Meer S, de Man RA, van den Berg AP, Houwen RH, Linn FH, van Oijen MG, Siersema PD, van Erpecum KJ
J Gastroenterol Hepatol 2015 Mar;30(3):535-9. doi: 10.1111/jgh.12716. PMID: 25160780

Recent systematic reviews

Lv T, Li X, Zhang W, Zhao X, Ou X, Huang J
Eur J Med Genet 2016 Oct;59(10):532-9. Epub 2016 Aug 31 doi: 10.1016/j.ejmg.2016.08.011. PMID: 27592149
Sturm E, Piersma FE, Tanner MS, Socha P, Roberts EA, Shneider BL
J Pediatr Gastroenterol Nutr 2016 Jul;63(1):82-7. doi: 10.1097/MPG.0000000000001102. PMID: 26720766
van Meer S, de Man RA, van den Berg AP, Houwen RH, Linn FH, van Oijen MG, Siersema PD, van Erpecum KJ
J Gastroenterol Hepatol 2015 Mar;30(3):535-9. doi: 10.1111/jgh.12716. PMID: 25160780
Wiggelinkhuizen M, Tilanus ME, Bollen CW, Houwen RH
Aliment Pharmacol Ther 2009 May 1;29(9):947-58. doi: 10.1111/j.1365-2036.2009.03959.x. PMID: 19210288
Roberts EA, Schilsky ML; American Association for Study of Liver Diseases (AASLD).
Hepatology 2008 Jun;47(6):2089-111. doi: 10.1002/hep.22261. PMID: 18506894

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