Disorder "Recessive dystrophic epidermolysis bullosa"
Found 1 record
Disorder information
Disorder name:
Recessive dystrophic epidermolysis bullosa
Disoder ID:
OMIM entry:
Synonyms:
autosomal recessive dystrophic epidermolysis bullosa generalisata gravis, RDEB, Hallopeau-Siemens type, autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
Definition:
An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has material basis in homozygous or compound heterozygous mutation in the gene encoding type vii collagen (col7a1) on chromosome 3p21.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered severity(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| MMP1 | MMP1:c.-1673G= | Expressivity | Altered severity | Gene activity study | The polymorphism is associated with the disease severitymore | more |
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