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:
Variant:
29 
Reference:
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
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