Disorder "Wilson Disease"
Found 14 records
Disorder information
Disorder name:
Wilson Disease
Disoder ID:
OMIM entry:
Synonyms:
Cerebral pseudosclerosis,Westphal pseudosclerosis,Westphal-Strumpell syndrome,Wilson's disease,hepatolenticular degeneration
Definition:
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.
Modifier statisitcs
Record:
14
Gene:
3
Variant:
14
Reference:
3
Effect type:
Expressivity(14)
Modifier effect:
Altered onset time(12)
,Altered expression of iron overload(1)
,Altered severity(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| XIAP | XIAP:c.*122del | Expressivity | Altered onset time | Assessment of genotype–phenotype associations | BIRC10/XIAP as a putative modifier gene of Wilson Diseasemore | more |
| XIAP:c.*12A>G | Expressivity | Altered onset time | Assessment of genotype–phenotype associations | BIRC8/XIAP as a putative modifier gene of Wilson Diseasemore | more | |
| XIAP:c.*80G>C | Expressivity | Altered onset time | Assessment of genotype–phenotype associations | BIRC9/XIAP as a putative modifier gene of Wilson Diseasemore | more | |
| XIAP:c.1019A>G | Expressivity | Altered onset time | Assessment of genotype–phenotype associations | BIRC14/XIAP as a putative modifier gene of Wilson Diseasemore | more | |
| XIAP:c.1268A>C(p.Gln423Pro) | Expressivity | Altered onset time | Assessment of genotype–phenotype associations | BIRC7/XIAP as a putative modifier gene of Wilson Diseasemore | more | |
| XIAP:c.1-26T>G | Expressivity | Altered onset time | Assessment of genotype–phenotype associations | BIRC11/XIAP as a putative modifier gene of Wilson Diseasemore | more | |
| XIAP:c.1408A>T | Expressivity | Altered onset time | Assessment of genotype–phenotype associations | BIRC12/XIAP as a putative modifier gene of Wilson Diseasemore | more | |
| XIAP:c.320A>G(p.Asn107Ser) | Expressivity | Altered onset time | Assessment of genotype–phenotype associations | BIRC4/XIAP as a putative modifier gene of Wilson Diseasemore | more | |
| XIAP:c.398C>T(p.Ser133Phe) | Expressivity | Altered onset time | Assessment of genotype–phenotype associations | BIRC5/XIAP as a putative modifier gene of Wilson Diseasemore | more | |
| XIAP:c.726T>G(p.Asp242Glu) | Expressivity | Altered onset time | Assessment of genotype–phenotype associations | BIRC6/XIAP as a putative modifier gene of Wilson Diseasemore | more |