Disorder "Creutzfeldt-Jakob disease"
Found 1 record
Disorder information
Disorder name:
Creutzfeldt-Jakob disease
Disoder ID:
OMIM entry:
Synonyms:
Jakob-Creutzfeldt disease, Creutzfeldt-Jacob disease, Subacute spongiform encephalopathy, Transmissible virus dementia, CJD, Creutzfeldt Jakob disease, Creutzfeldt Jacob syndrome
Definition:
A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Penetrance(1)
Modifier effect:
Altered incidence(1)
Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
---|---|---|---|---|---|---|
KARS | KARS:rs150529876 | Penetrance | Altered incidence | Pedigree analysis | Candidate protective factormore | more |
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