Disorder "Amyotrophic Lateral Sclerosis"
Found 36 records
Disorder information
Disorder name:
Amyotrophic Lateral Sclerosis
Disoder ID:
OMIM entry:
Synonyms:
ALS,Lou Gehrig's disease,motor neuron disease, bulbar
Definition:
A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.
Modifier statisitcs
Record:
36
Gene:
15
Variant:
32
Reference:
8
Effect type:
Expressivity(35)
,Penetrance(1)
Modifier effect:
Risk of respiratory failure or death(20)
,Risk factor(5)
,Altered life span(4)
,Altered severity(4)
,Altered incidence(1)
,Altered onset time(1)
,Altered survival time and Altered susceptibility(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| SOD1 | SOD1:p.Lys37* | Expressivity | Altered severity | Gene activity study | Mice carrying the mutant human SOD1 transgenes can greatly increase our ability to properly assess the impact and implications for the role of various genes in the development of ALSmore | more |
| SOD1:p.Lys37* | Expressivity | Altered life span | Study on mouse strains | ALS genetic modifiers that increase survival of SOD1 micemore | more | |
| SOD1:p.Phe46* | Expressivity | Altered onset time | Study on animal models | The H46R mutation in the human Cu/Zn superoxide dismutase (SOD1) gene sustained motor functions and delayed disease progressionmore | more | |
| SOD1:p.Phe46* | Expressivity | Altered life span | Study on mouse strains | ALS genetic modifiers that increase survival of SOD1 micemore | more | |
| SOD1:rs774994509 | Expressivity | Risk of respiratory failure or death | After adjusting forother factors, each additional rare variant increased the risk of respiratory failure or death by 60% (p=0.0098). | The presence of the rare variant was associated with the risk of ALSmore | more | |
| SETX | SETX:rs545072717 | Expressivity | Risk of respiratory failure or death | After adjusting forother factors, each additional rare variant increased the risk of respiratory failure or death by 60% (p=0.0098). | The presence of the rare variant was associated with the risk of ALSmore | more |
| SETX:rs757006541 | Expressivity | Risk of respiratory failure or death | After adjusting forother factors, each additional rare variant increased the risk of respiratory failure or death by 60% (p=0.0098). | The presence of the rare variant was associated with the risk of ALSmore | more | |
| PLCD1 | PLCD1:rs776435867 | Expressivity | Risk of respiratory failure or death | After adjusting forother factors, each additional rare variant increased the risk of respiratory failure or death by 60% (p=0.0098). | The presence of the rare variant was associated with the risk of ALSmore | more |
| P4HB | P4HB:c.*600G>T | Expressivity | Risk factor | P=0.0148 | P4HB is a modifier gene in ALS susceptibility and may represent a potential therapeutic target for ALS.more | more |
| P4HB:c.624+2376T>C | Expressivity | Risk factor | P=0.0155 | P4HB is a modifier gene in ALS susceptibility and may represent a potential therapeutic target for ALS.more | more |