skip navigation links
National Cancer Institute
Enterprise Vocabulary Services
Box
NCIm Version: 201808 (Browser Version 2.9, using LexEVS 6.5.1)
SearchBox Top
SearchBox Bottom
Hepatolenticular Degeneration (CUI C0019202) Suggest changes to this concept
Add to Cart

Terms & Properties

Concept Unique Identifier (CUI): C0019202

NCI Thesaurus Code: C84756  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A rare autosomal recessive inherited disorder caused by mutations in the ATP7B gene. It is characterized by copper accumulation in the tissues, particularly brain and liver. It results in liver failure, neurologic, and psychotic manifestations.

GARD Definition: Wilson disease is a rare inherited disorder that is characterized by the accumulation of copper in the body. Because high levels of copper are toxic to tissues and organs, this buildup can lead to damage of the liver, brain and eyes. Signs and symptoms of Wilson disease include chronic liver disease, central nervous system abnormalities, and psychiatric (mental health-related) disturbances. It is caused by a mutation of the ATP7B gene and is inherited in an autosomal recessive manner. Although there is no cure for Wilson disease, therapies exist that aim to reduce or control the amount of copper that accumulates in the body. - this information is from GARD/ORDR/NCATS.

MEDLINEPLUS Definition: 

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

CSP Definition: rare autosomal recessive disease characterized by the deposition of copper in the brain, liver, cornea and other organs; clinical features include liver cirrhosis, liver failure, splenomegaly, tremor, bradykinesia, dysarthria, chorea, muscle rigidity, Kayser-Fleischer rings (pigmented corneal lesions), ataxia and intellectual deterioration; hepatic dysfunction may precede neurologic dysfunction by several years.

MSH Definition: A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as LIVER CIRRHOSIS; TREMOR; ATAXIA and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years.

Synonyms & Abbreviations: (see Synonym Details)
Cerebral Pseudoscleroses
Cerebral pseudosclerosis (disorder)
cerebral pseudosclerosis
Copper Storage Disease
Degeneration, Hepatocerebral
Degeneration, Hepatolenticular
Degeneration, Neurohepatic
Degeneration, Progressive Lenticular
Degenerations, Hepatocerebral
Degenerations, Neurohepatic
Diseases, Hepato-Neurologic Wilson
Diseases, Kinnier-Wilson
familial hepatitis
Gowers' chorea
HEPATIC WILSONS DISEASE
Hepato Neurologic Wilson Disease
Hepato-lenticular degeneration
Hepato-Neurologic Wilson Diseases
Hepato-Neurologic Wilson Disease
Hepatocerebral Degenerations
hepatocerebral degeneration
Hepatolenticular Degeneration [Disease/Finding]
Hepatolenticular Degeneration Syndrome
hepatolenticular degeneration
HEPATONEUROLOGIC WILSON DIS
Kinnier Wilson Disease
KINNIER WILSON DIS
Kinnier-Wilson Diseases
Kinnier-Wilson disease
LENTICULAR DEGENERATION, PROGRESSIVE
Neurohepatic Degenerations
neurohepatic degeneration
Progressive Lenticular Degeneration
Pseudoscleroses, Cerebral
Pseudosclerosis, Cerebral
Pseudosclerosis
WD - Wilson's disease
WD
Westphal pseudosclerosis
Westphal Strumpell disease
Westphal Strumpell Syndrome
WESTPHAL-STRUEMPELL PSEUDOSCLEROSIS
Westphal-Strumpell syndrome (disorder)
Westphal-Strumpell Syndromes
Westphal-Strumpell Syndrome
Wilson Disease, Hepato-Neurologic
Wilson Diseases, Hepato-Neurologic
WILSON DISEASE
WILSON DIS
Wilson's disease (disorder)
Wilson's disease
Wilsons Disease
WILSONS DIS
WND

External Source Codes: 
NCI Thesaurus Code C84756 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN lenticular refers to the lenticular nucleus in the brain MSH
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
CODE_ALSO associated Kayser Fleischer ring (H18.04-) ICD10CM
CTV3ID C3510 SNOMEDCT_US
CTV3ID XU1XE SNOMEDCT_US
CTV3ID XU1Z3 SNOMEDCT_US
DATE_CREATED 06/20/2002 MEDLINEPLUS
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 1849-4349 CSP
DISEASE_IDENTIFIER_ID 6053 GARD
DISEASE_IDENTIFIER_ID 6054 GARD
DISEASE_IDENTIFIER_ID 6055 GARD
DX 19640101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
GENELOCUS ,1,3,q,1,4,.,3,-,q,2,1,.,1, OMIM
GENESYMBOL ATP7B OMIM
GENESYMBOL WND OMIM
HAS_GARD_PAGE true GARD
HN 1964(1963) MSH
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2010-02-24T00:00:00 GARD
MDA 19990101 MSH
MESH_DEFINITION A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as LIVER CIRRHOSIS; TREMOR; ATAXIA and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years. NDFRT
MESH_DUI D006527 NDFRT
MESH_NAME Hepatolenticular Degeneration NDFRT
MESH_UI M0010235 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20130708 MSH
MN C06.552.413 MSH
MN C10.228.140.079.493 MSH
MN C10.228.140.163.100.360 MSH
MN C10.228.662.400 MSH
MN C10.574.500.487 MSH
MN C16.320.400.361 MSH
MN C16.320.565.189.360 MSH
MN C16.320.565.618.403 MSH
MN C18.452.132.100.360 MSH
MN C18.452.648.189.360 MSH
MN C18.452.648.618.403 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
MP_HEALTH_TOPIC_URL https://www.nlm.nih.gov/medlineplus/wilsondisease.html MEDLINEPLUS
MP_OTHER_LANGUAGE_URL Spanish https://www.nlm.nih.gov/medlineplus/spanish/wilsondisease.html MEDLINEPLUS
MP_PRIMARY_INSTITUTE_URL National Institute of Diabetes and Digestive and Kidney Diseases http://www.niddk.nih.gov/ MEDLINEPLUS
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000001510 NDFRT
ORDER_NO 04715 ICD10CM
PM 1964; see HEPATO-LENTICULAR DEGENERATION 1963 MSH
PRIMARY_PATH 10019819$10009713$10029299$10010331$Hepato-lenticular degeneration$Central nervous system disorders congenital NEC$Neurological disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 20.0 MDR
PT_IN_VERSION 20.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/7893/wilson-disease/resources/1 GARD
RXAUI 3131796 RXNORM
RXAUI 3172295 RXNORM
RXAUI 3172306 RXNORM
RXAUI 3172350 RXNORM
RXAUI 3172351 RXNORM
RXAUI 3184920 RXNORM
RXAUI 3206240 RXNORM
RXAUI 3223939 RXNORM
RXAUI 3225810 RXNORM
RXAUI 3256435 RXNORM
RXAUI 3256481 RXNORM
RXAUI 3256485 RXNORM
RXAUI 5930622 RXNORM
RXAUI 5931101 RXNORM
RXCUI 1025069 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_ADDVERSION 11.1 MDR
SMQ_TERM_ADDVERSION 8.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 11.1 MDR
SMQ_TERM_LMVERSION 12.1 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 190823004 NDFRT
SNOMED_CID 192640001 NDFRT
SNOMED_CID 88518009 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E83.0 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~E83.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E83.01 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF CHOREA CO-OCCURRENT AND DUE TO WILSON DISEASE CHOOSE G25.5 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447638001 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447639009 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 724766009 | Chorea co-occurrent and due to Wilson disease | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~OTHERWISE TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E83.01 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~G25.5 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~ SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~C3510 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XU1XE SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~XU1Z3 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T019687 MSH
TERMUI T019688 MSH
TERMUI T019689 MSH
TERMUI T019690 MSH
TERMUI T019691 MSH
TERMUI T364159 MSH
TERMUI T364160 MSH
TERMUI T364161 MSH
TERMUI T364162 MSH
TERMUI T364163 MSH
TERMUI T364164 MSH
TERMUI T842695 MSH
TERMUI T842696 MSH
TH GHR (2014) MSH
TH NLM (1966) MSH
TH NLM (2000) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TH UNK (19XX) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0019202

Mainbox Bottom