loading...| Preferred Name | Hepatolenticular Degeneration | |
| Synonyms |
Degeneration, Progressive Lenticular Kinnier Wilson Disease Degenerations, Hepatocerebral Degeneration, Hepatolenticular Disease, Copper Storage Diseases, Copper Storage Pseudosclerosis Hepatocerebral Degenerations Hepatolenticular Degeneration Syndromes Copper Storage Diseases Wilson Disease, Hepato-Neurologic Pseudosclerosis, Cerebral Degeneration, Hepatocerebral Degeneration Syndrome, Hepatolenticular Lenticular Degeneration, Progressive Neurohepatic Degeneration Storage Diseases, Copper Pseudoscleroses, Cerebral Degenerations, Neurohepatic Kinnier-Wilson Diseases Cerebral Pseudosclerosis Hepato-Neurologic Wilson Disease Westphal Strumpell Syndrome Wilsons Disease Hepatocerebral Degeneration Progressive Lenticular Degeneration Westphal-Strumpell Syndromes Hepato-Neurologic Wilson Diseases Diseases, Hepato-Neurologic Wilson Hepatic Form of Wilson Disease Kinnier-Wilson Disease Syndrome, Hepatolenticular Degeneration Degeneration Syndromes, Hepatolenticular Wilson's Disease Neurohepatic Degenerations Hepatolenticular Degeneration Syndrome Westphal-Strumpell Syndrome Syndromes, Hepatolenticular Degeneration Copper Storage Disease Wilson Disease Cerebral Pseudoscleroses Storage Disease, Copper Diseases, Kinnier-Wilson Wilson Disease, Hepatic Form Degeneration, Neurohepatic Wilson Diseases, Hepato-Neurologic Hepato Neurologic Wilson Disease |
|
| Definitions |
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. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D006527 |
|
| altLabel |
Degeneration, Progressive Lenticular Kinnier Wilson Disease Degenerations, Hepatocerebral Degeneration, Hepatolenticular Disease, Copper Storage Diseases, Copper Storage Pseudosclerosis Hepatocerebral Degenerations Hepatolenticular Degeneration Syndromes Copper Storage Diseases Wilson Disease, Hepato-Neurologic Pseudosclerosis, Cerebral Degeneration, Hepatocerebral Degeneration Syndrome, Hepatolenticular Lenticular Degeneration, Progressive Neurohepatic Degeneration Storage Diseases, Copper Pseudoscleroses, Cerebral Degenerations, Neurohepatic Kinnier-Wilson Diseases Cerebral Pseudosclerosis Hepato-Neurologic Wilson Disease Westphal Strumpell Syndrome Wilsons Disease Hepatocerebral Degeneration Progressive Lenticular Degeneration Westphal-Strumpell Syndromes Hepato-Neurologic Wilson Diseases Diseases, Hepato-Neurologic Wilson Hepatic Form of Wilson Disease Kinnier-Wilson Disease Syndrome, Hepatolenticular Degeneration Degeneration Syndromes, Hepatolenticular Wilson's Disease Neurohepatic Degenerations Hepatolenticular Degeneration Syndrome Westphal-Strumpell Syndrome Syndromes, Hepatolenticular Degeneration Copper Storage Disease Wilson Disease Cerebral Pseudoscleroses Storage Disease, Copper Diseases, Kinnier-Wilson Wilson Disease, Hepatic Form Degeneration, Neurohepatic Wilson Diseases, Hepato-Neurologic Hepato Neurologic Wilson Disease |
|
| AN |
lenticular refers to the lenticular nucleus in the brain |
|
| 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 |
|
| cui |
C0019202 C1527352 |
|
| DC |
1 |
|
| 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. |
|
| DX |
19640101 |
|
| FX |
D000073840 |
|
| HN |
1964(1963) |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Machine permutation |
1964; see HEPATO-LENTICULAR DEGENERATION 1963 |
|
| Mapped from | ||
| MDA |
19990101 |
|
| MMR |
20190711 |
|
| MN |
C16.320.565.618.403 C06.552.413 C18.452.648.618.403 C10.228.140.163.100.360 C10.228.140.079.493 C10.228.662.400 C10.574.500.487 C18.452.132.100.360 C16.320.565.189.360 C18.452.648.189.360 C16.320.400.361 |
|
| notation |
D006527 |
|
| prefLabel |
Hepatolenticular Degeneration |
|
| TERMUI |
T019687 T364160 T019690 T019689 T364162 T364163 T364164 T842696 T364166 T019691 T364159 T842695 T364165 T364161 T019688 |
|
| TH |
OMIM (2013) NLM (2000) NLM (1966) UNK (19XX) GHR (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D009069 http://purl.bioontology.org/ontology/MESH/D008664 http://purl.bioontology.org/ontology/MESH/D001480 http://purl.bioontology.org/ontology/MESH/D020739 |