Disorder "Hereditary Hemorrhagic Telangiectasia"
Found 2 records
Disorder information
Disorder name:
Hereditary Hemorrhagic Telangiectasia
Disoder ID:
OMIM entry:
Synonyms:
Osler hemorrhagic telangiectasia syndrome,Osler-Weber-Rendu disease,Rendu-Osler-Weber disease
Definition:
An autosomal dominant disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins.
Modifier statisitcs
Record:
2
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(2)
Modifier effect:
Altered severity(2)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| ACVRL1 | ACVRL1:c.314-35A>G | Expressivity | Altered severity | Association with eng (OR=2.66, P=0.022) | ACVRL1 c.314-35A>G showed a trend toward association with pulmonary AVM (OR=1.48, P=0.062). ACVRL1 c.314-35A>G was significantly associated with any VM among patients with HHT with ENG (OR=2.66, P=0.022)more | more |
| ACVRL1:c.314-35A>G | Expressivity | Altered severity | Association with pulmonary avm (OR=1.48, P=0.062) | ACVRL1 c.314-35A>G showed a trend toward association with pulmonary AVM (OR=1.48, P=0.062). ACVRL1 c.314-35A>G was significantly associated with any VM among patients with HHT with ENG (OR=2.66, P=0.022)more | more |
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