Disorder "Frontotemporal Dementia"
Found 8 records
Disorder information
Disorder name:
Frontotemporal Dementia
Disoder ID:
OMIM entry:
Synonyms:
Wilhemsen-Lynch disease,frontotemporal lobar degeneration,multiple system tauopathy with presenile dementia,pallidopontonigral degeneration
Definition:
A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders.
Modifier statisitcs
Record:
8
Gene:
8
Variant:
8
Reference:
1
Effect type:
Expressivity(8)
Modifier effect:
Altered survival time(4)
,Altered onset time(3)
,Risk factor(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| UNC13A | UNC13A:c.2473-324T>G | Expressivity | Altered survival time | P=0.003 | Significantly associated with survival after onsetmore | more |
| UBAP1 | UBAP1:rs7018487 | Expressivity | Altered onset time | P=0.003 | Significantly associated with age at onsetmore | more |
| PRNP | PRNP:rs6052771 | Expressivity | Altered onset time | P=0.003 | Significantly associated with age at onsetmore | more |
| MT1E | MT1E:rs7403881 | Expressivity | Altered onset time | P=0.001 | Significantly associated with age at onsetmore | more |
| GRN | GRN:rs5848 | Expressivity | Altered survival time | P=0.001 | Significantly associated with survival after onsetmore | more |
| ELP3 | ELP3:rs13268953 | Expressivity | Altered survival time | P=0.003 | Significantly associated with survival after onsetmore | more |
| C9orf72 | ALAD:rs1800435 | Expressivity | Risk factor | P=0.003 | Significantly associated with motor neuron diseasemore | more |
| APOE | APOE | Expressivity | Altered survival time | P=0.004 | Significantly associated with survival after onsetmore | more |
Total 8,Each Page
,Jump To
Page