Disorder "Idiopathic Pulmonary Fibrosis"
Found 3 records
Disorder information
Disorder name:
Idiopathic Pulmonary Fibrosis
Disoder ID:
OMIM entry:
Synonyms:
IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL, FIBROCYSTIC PULMONARY DYSPLASIA, cryptogenic fibrosing alveolitis
Definition:
Idiopathic pulmonary fibrosis (IPF) is a nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause.
Modifier statisitcs
Record:
3
Gene:
3
Variant:
3
Reference:
3
Effect type:
Expressivity(3)
Modifier effect:
Altered life span(1)
,Altered severity(1)
,Risk factor(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| TLR3 | TLR3:c.1234C>T(p.Leu412Phe) | Expressivity | Risk factor | Gene activity study | TLR3 L412F was also associated with a significantly greater risk of mortality and an accelerated decline in FVC in patients with IPF.more | more |
| MUC5B | MUC5B:c.-3133G>T | Expressivity | Altered life span | Pedigree analysis | rs35705950 was recently associated with improved survival in an idiopathic pulmonary fibrosis (IPF) patientsmore | more |
| FCGR1A | FCGR1A:c.500A>G(p.Arg131His) | Expressivity | Altered severity | P=0.03 | The FcγRIIa R131H polymorphism affected the IPF severity and progression, supporting the involvement of immunological mechanisms in IPF pathogenesis.more | more |
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