Disorder "Progressive Familial Intrahepatic Cholestasis 3"
Found 29 records
Disorder information
Disorder name:
Progressive Familial Intrahepatic Cholestasis 3
Disoder ID:
OMIM entry:
Synonyms:
progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase, MDR3 deficiency, PFIC3
Definition:
Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood.
Modifier statisitcs
Record:
29
Gene:
1
Variant:
29
Reference:
1
Effect type:
Expressivity(29)
Modifier effect:
Altered gene activity(29)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| ABCB4 | ABCB4:c.835T>C(p.Tyr279His) | Expressivity | Altered gene activity | Gene activity study | The mutation should result in substantial impairment of ABCB4 floppase activitymore | more |
| ABCB4:c.857C>T(p.Ala286Val) | Expressivity | Altered gene activity | Gene activity study | The mutation should result in substantial impairment of ABCB4 floppase activitymore | more | |
| ABCB4:c.959C>T(p.Ser320Phe) | Expressivity | Altered gene activity | Gene activity study | The mutation should result in substantial impairment of ABCB4 floppase activitymore | more | |
| ABCB4:p.Ala1193Thr | Expressivity | Altered gene activity | Gene activity study | The mutation should result in substantial impairment of ABCB4 floppase activitymore | more | |
| ABCB4:p.Ala250Pro | Expressivity | Altered gene activity | Gene activity study | The mutation should result in substantial impairment of ABCB4 floppase activitymore | more | |
| ABCB4:p.Ala364Val | Expressivity | Altered gene activity | Gene activity study | The mutation should result in substantial impairment of ABCB4 floppase activitymore | more | |
| ABCB4:p.Ala511Thr | Expressivity | Altered gene activity | Gene activity study | The mutation should result in substantial impairment of ABCB4 floppase activitymore | more | |
| ABCB4:p.Ala840Asp | Expressivity | Altered gene activity | Gene activity study | The mutation should result in substantial impairment of ABCB4 floppase activitymore | more | |
| ABCB4:p.Glu558Lys | Expressivity | Altered gene activity | Gene activity study | The mutation should result in substantial impairment of ABCB4 floppase activitymore | more | |
| ABCB4:p.Gly126Glu | Expressivity | Altered gene activity | Gene activity study | The mutation should result in substantial impairment of ABCB4 floppase activitymore | more |