Disorder "Muscular Dystrophy"
Found 5 records
Disorder information
Disorder name:
Muscular Dystrophy
Disoder ID:
OMIM entry:
OMIM:300376
,OMIM:158800
,OMIM:159050
,OMIM:309930
,OMIM:309950
,OMIM:310000
,OMIM:310095
,OMIM:600416
Synonyms:
Benign pseudohypertrophic muscular dystrophy,benign congenital myopathy
Definition:
The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.
Modifier statisitcs
Record:
5
Gene:
3
Variant:
5
Reference:
3
Effect type:
Expressivity(5)
Modifier effect:
Risk factor(3)
,Altered onset time(1)
,destabilized plasma membrane and/or an altered extracellular matrix(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| SGCG | SGCG:c.525delT* | Expressivity | Risk factor | Study on mouse strains | Mutation in the γ-sarcoglycan is thought to contribute to the formation of intramolecular disulfide bridges, The loss of a disulfide bridge likely affects the trafficking of γ-sarcoglycan to the plasma membranemore | more |
| SGCG:p.Cys283* | Expressivity | Risk factor | Study on mouse strains | Mutation in the γ-sarcoglycan is thought to contribute to the formation of intramolecular disulfide bridges, The loss of a disulfide bridge likely affects the trafficking of γ-sarcoglycan to the plasma membranemore | more | |
| SGCG:p.Gly69* | Expressivity | Risk factor | Study on mouse strains | Mutation in the γ-sarcoglycan is thought to contribute to the formation of intramolecular disulfide bridges, The loss of a disulfide bridge likely affects the trafficking of γ-sarcoglycan to the plasma membranemore | more | |
| FBN1 | FBN1:p.Ser1039* | Expressivity | destabilized plasma membrane and/or an altered extracellular matrix | Study on animal models | Modifier genes that alter the TGFβ pathway and approaches to modulate TGFβ activity to ameliorate muscle disease.more | more |
| CD40 | CD40:c.-1T>C | Expressivity | Altered onset time | From review article | A SNP at rs1883832 of the CD40 gene is predictive of the age at loss of ambulationmore | more |
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