ORPHA:905
Wilson disease
Synonyms: Hepatolenticular degeneration
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
A rare genetic disorder of copper metabolism presenting with non-specific hepatic, neurologic, psychiatric or ophthalmologic manifestations due to impaired biliary copper excretion and consecutive excessive copper deposition in the body.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Wilson disease | Hepatolenticular degeneration |
| fr | Maladie de Wilson | Dégénérescence hépato-lenticulaire |
| de | Wilson-Krankheit | Degeneration, hepatolentikuläre |
| es | Enfermedad de Wilson | |
| it | Malattia di Wilson | Degenerazione epatolenticolare |
| nl | Ziekte van Wilson | Hepatolenticulaire degeneratie |
| pt | Doença de Wilson | Degenerescência hepatolenticular |
| pl | Choroba Wilsona | Zwyrodnienie soczewkowo-wątrobowe |
| cs | Wilsonova choroba | Hepatolentikulární degenerace |
| uk | Хвороба Вільсона | Гепатолентикулярна дегенерація |
| zh | 肝豆状核变性 | 肝豆状核变性 |
| tr | Wilson hastalığı | Hepatolentiküler dejenerasyon |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 277900 | E | validated | |
| ICD-10 | E83.0 | NTBT | inclusion | validated |
| ICD-11 | 5C64.00 | E | specific | validated |
| MONDO | 0010200 | E | validated | |
| MeSH | D006527 | E | validated | |
| UMLS | C0019202 | E | validated | |
| GARD | 7893 | E | validated | |
| MedDRA | 10019819 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (12):
- ORPHA:309839Disorder of copper metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:225692Metal transport or utilization disorder with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:93593Nephropathy secondary to a storage or other metabolic disease
rare genetic diseases; rare renal diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:506210Rare disorder potentially indicated for liver transplant
rare transplant-related disorders - ORPHA:370106Rare disorder with dystonia and other neurologic or systemic manifestation
rare genetic diseases; rare neurological diseases - ORPHA:307061Rare genetic tremor disorder
rare genetic diseases - ORPHA:207018Rare hereditary metabolic disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:101940Rare metabolic liver disease
rare genetic diseases; rare hepatic diseases - ORPHA:98033Rare neurologic disease with psychiatric involvement
rare neurological diseases - ORPHA:306712Rare tremor disorder
rare neurological diseases - ORPHA:98687Supranuclear eye movement disorder
rare genetic diseases; rare ophthalmic disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATP7B | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:870 | ENSG00000123191 | 606882 | 13q14.3 | ATPase copper transporting beta | 23333878[PMID]_22240481[PMID] |
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Prevalence and incidence
13 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2.25 / 100 000 | Worldwide | Value and class | Validated | 31449670[PMID] |
| Point prevalence | 1-9 / 100 000 | 6 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2015[OTHER] |
| Point prevalence | 1-9 / 100 000 | 2.02 / 100 000 | Worldwide | Value and class | Validated | 31449670[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.5 / 100 000 | France | Value and class | Validated | 28648494[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.94 / 100 000 | Italy | Value and class | Validated | 11953730[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 3 / 100 000 | Japan | Value and class | Validated | 7338703[PMID]_17276780 [PMID] |
| Point prevalence | 1-5 / 10 000 | 10 / 100 000 | China | Value and class | Validated | 20301685[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 13.5 / 100 000 | Specific population | Value and class | Validated | 11953730[PMID] |
| Point prevalence | 1-5 / 10 000 | 37.04 / 100 000 | Specific population | Value and class | Validated | 23486543[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1.37 / 100 000 | Ireland | Value and class | Validated | 8459248[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2.9 / 100 000 | Germany | Value and class | Validated | 542546[PMID]_17276780[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.016 / 100 000 | Finland | Value and class | Validated | 32618023[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.45 / 100 000 | Finland | Value and class | Validated | 32618023[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
57 annotations · validated 2024-03-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001155 | Abnormality of the hand | |
| HP:0000140 | Abnormality of the menstrual cycle | |
| HP:0006554 | Acute hepatic failure | |
| HP:0200119 | Acute hepatitis | |
| HP:0000718 | Aggressive behavior | |
| HP:5200321 | Amplification of sexual behavior | |
| HP:0001903 | Anemia | |
| HP:0002829 | Arthralgia | |
| HP:0001369 | Arthritis | |
| HP:0003418 | Back pain | |
| HP:0002653 | Bone pain | |
| HP:0000978 | Bruising susceptibility | |
| HP:0001394 | Cirrhosis | |
| HP:0002312 | Clumsiness | |
| HP:0000716 | Depression | |
| HP:0001260 | Dysarthria | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001508 | Failure to thrive | |
| HP:0001288 | Gait disturbance | |
| HP:0001397 | Hepatic steatosis | |
| HP:0012115 | Hepatitis | |
| HP:0002240 | Hepatomegaly | |
| HP:0004324 | Increased body weight | |
| HP:0001249 | Intellectual disability | |
| HP:0000952 | Jaundice | |
| HP:0001386 | Joint swelling | |
| HP:0200032 | Kayser-Fleischer ring | |
| HP:0002756 | Pathologic fracture | |
| HP:0008994 | Proximal muscle weakness in lower limbs | |
| HP:0000989 | Pruritus | |
| HP:0001744 | Splenomegaly | |
| HP:0001873 | Thrombocytopenia | |
| HP:0001824 | Weight loss | |
| Frequent (79-30%) | ||
| HP:0002072 | Chorea | |
| HP:0010837 | Decreased circulating ceruloplasmin concentration | |
| HP:0001332 | Dystonia | |
| HP:0001288 | Gait disturbance | |
| HP:0001878 | Hemolytic anemia | |
| HP:0000939 | Osteoporosis | |
| HP:0000751 | Personality changes | |
| HP:0001337 | Tremor | |
| Occasional (29-5%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0003355 | Aminoaciduria | |
| HP:0000739 | Anxiety | |
| HP:0001541 | Ascites | |
| HP:0003781 | Excessive salivation | |
| HP:0012748 | Focal T2 hyperintense brainstem lesion | |
| HP:0000738 | Hallucinations | |
| HP:0000829 | Hypoparathyroidism | |
| HP:0000789 | Infertility | |
| HP:0100785 | Insomnia | |
| HP:0000787 | Nephrolithiasis | |
| HP:0001733 | Pancreatitis | |
| HP:0000709 | Psychosis | |
| HP:0001250 | Seizure | |
| HP:0002013 | Vomiting | |
| Very rare (<4-1%) | ||
| HP:6000642 | Sunflower cataract | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 28723019[PMID]_20301685[PMID]_34432061[PMID]_24209444[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/905
- This record as JSON: /data/d/905.json