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.1207T>C(p.Tyr403His) | Expressivity | Altered gene activity | Gene activity study | The mutation should result in substantial impairment of ABCB4 floppase activitymore | more |
ABCB4:c.1769G>A(p.Arg590Gln) | Expressivity | Altered gene activity | Gene activity study | The mutation should result in substantial impairment of ABCB4 floppase activitymore | more | |
ABCB4:c.1888A>G(p.Met630Val) | Expressivity | Altered gene activity | Gene activity study | The mutation should result in substantial impairment of ABCB4 floppase activitymore | more | |
ABCB4:c.2144C>T(p.Thr715Ile) | Expressivity | Altered gene activity | Gene activity study | The mutation should result in substantial impairment of ABCB4 floppase activitymore | more | |
ABCB4:c.2169dup(p.Leu724AlafsX744) | Expressivity | Altered gene activity | Gene activity study | The mutation should result in substantial impairment of ABCB4 floppase activitymore | more | |
ABCB4:c.2210C>T(p.Ala737Val) | Expressivity | Altered gene activity | Gene activity study | The mutation should result in substantial impairment of ABCB4 floppase activitymore | more | |
ABCB4:c.2324C>T(p.Thr775Met) | Expressivity | Altered gene activity | Gene activity study | The mutation should result in substantial impairment of ABCB4 floppase activitymore | more | |
ABCB4:c.2661del(p.Glu888fs) | Expressivity | Altered gene activity | Gene activity study | The mutation should result in substantial impairment of ABCB4 floppase activitymore | more | |
ABCB4:c.2860G>A(p.Gly954Ser) | Expressivity | Altered gene activity | Gene activity study | The mutation should result in substantial impairment of ABCB4 floppase activitymore | more | |
ABCB4:c.475C>T(p.Arg159*) | Expressivity | Altered gene activity | Gene activity study | The mutation should result in substantial impairment of ABCB4 floppase activitymore | more |