Disorder "Macular Corneal Dystrophy"
Found 5 records
Disorder information
Disorder name:
Macular Corneal Dystrophy
Disoder ID:
OMIM entry:
Synonyms:
MACULAR DYSTROPHY, CORNEAL, 1, Fehr corneal dystrophy
Definition:
Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident.
Modifier statisitcs
Record:
5
Gene:
2
Variant:
5
Reference:
1
Effect type:
Expressivity(5)
Modifier effect:
Altered severity(5)
Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
---|---|---|---|---|---|---|
ROM1 | ROM1:c.686G>A(p.Arg229His) | Expressivity | Altered severity | Pedigree analysis | PRPH2-associated phenotype might be modulated by additional mutations in other genes (in this family ABCA4 and/or ROM1) accounting for intrafamilial variability and resulting in a cumulative effect worsening the phenotype. Families showing a variable macular dystrophy phenotype caused by mutations in PRPH2 are tested for additional mutations in ABCA4 and ROM1 as they might alter the progression of the PRPH2 phenotype.more | more |
ROM1:p.Arg172Trp | Expressivity | Altered severity | Pedigree analysis | PRPH2-associated phenotype might be modulated by additional mutations in other genes (in this family ABCA4 and/or ROM1) accounting for intrafamilial variability and resulting in a cumulative effect worsening the phenotype. Families showing a variable macular dystrophy phenotype caused by mutations in PRPH2 are tested for additional mutations in ABCA4 and ROM1 as they might alter the progression of the PRPH2 phenotype.more | more | |
ABCA4 | ABCA4:c.514G>A(p.Gly172Ser) | Expressivity | Altered severity | Pedigree analysis | PRPH2-associated phenotype might be modulated by additional mutations in other genes (in this family ABCA4 and/or ROM1) accounting for intrafamilial variability and resulting in a cumulative effect worsening the phenotype. Families showing a variable macular dystrophy phenotype caused by mutations in PRPH2 are tested for additional mutations in ABCA4 and ROM1 as they might alter the progression of the PRPH2 phenotype.more | more |
ABCA4:c.6148G>C(p.Val2050Leu) | Expressivity | Altered severity | Pedigree analysis | PRPH2-associated phenotype might be modulated by additional mutations in other genes (in this family ABCA4 and/or ROM1) accounting for intrafamilial variability and resulting in a cumulative effect worsening the phenotype. Families showing a variable macular dystrophy phenotype caused by mutations in PRPH2 are tested for additional mutations in ABCA4 and ROM1 as they might alter the progression of the PRPH2 phenotype.more | more | |
ABCA4:p.Arg229His | Expressivity | Altered severity | Pedigree analysis | PRPH2-associated phenotype might be modulated by additional mutations in other genes (in this family ABCA4 and/or ROM1) accounting for intrafamilial variability and resulting in a cumulative effect worsening the phenotype. Families showing a variable macular dystrophy phenotype caused by mutations in PRPH2 are tested for additional mutations in ABCA4 and ROM1 as they might alter the progression of the PRPH2 phenotype.more | more |
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