Disorder "Duchenne Muscular Dystrophy"
Found 11 records
Disorder information
Disorder name:
Duchenne Muscular Dystrophy
Disoder ID:
OMIM entry:
Definition:
Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.
Modifier statisitcs
Record:
11
Gene:
7
Variant:
10
Reference:
3
Effect type:
Expressivity(10)
,Penetrance(1)
Modifier effect:
Altered membrane damage and fibrosis(4)
,Altered response to exercise and injury(2)
,Altered SPP1 expression level(1)
,Altered grip strength(1)
,Altered incidence(1)
,Altered severity(1)
,Modify the abdominal muscles(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| TGFBR2 | TGFBR2:c.169+3919A>G | Expressivity | Altered SPP1 expression level | From review article | Modifiers can alter strength and ambulation in muscular dystrophymore | more |
| TGFB1 | TGFB1 | Expressivity | Altered response to exercise and injury | From review article | Modify the phenotypemore | more |
| SPP1 | SPP1:c.-2074T>G | Expressivity | Altered severity | More rapid progression (padova cohort log rank P=0.003), and 12%-19% less grip strength (cinrg cohort P=0.0003) | Osteopontin genotype is a genetic modifier of disease severity in Duchenne dystrophy.more | more |
| SPP1:c.-2074T>G | Expressivity | Altered grip strength | From review article | Patients with the G allele at rs28357094 performed less well on the North Star Ambulatory Assessment (NSAA) and 6-Minute Walk Test (6MWT) measuresmore | more | |
| SMAD7 | SMAD7 | Expressivity | Altered response to exercise and injury | From review article | TGFβ1 is elevated in response to exercise and injurymore | more |
| LTBP4 | LTBP4:c.2359A>G(p.Thr787Ala) | Expressivity | Altered membrane damage and fibrosis | From review article | Modifiers can alter strength and ambulation in muscular dystrophymore | more |
| LTBP4:c.2458A>G(p.Thr820Ala) | Expressivity | Altered membrane damage and fibrosis | From review article | Modifiers can alter strength and ambulation in muscular dystrophymore | more | |
| LTBP4:c.3311C>T(p.Thr1104Met) | Expressivity | Altered membrane damage and fibrosis | From review article | Modifiers can alter strength and ambulation in muscular dystrophymore | more | |
| LTBP4:c.580G>A(p.Val194Ile) | Expressivity | Altered membrane damage and fibrosis | From review article | Modifiers can alter strength and ambulation in muscular dystrophymore | more | |
| ANXA6 | ANXA6 | Expressivity | Modify the abdominal muscles | From review article | ANXA6 has been identified as a modifier of MDmore | more |