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:
Gene:
Variant:
Reference:
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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