Progressive Familial Intrahepatic Cholestasis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

PFIC MCID: PRG047 MIFTS: 64	Progressive Familial Intrahepatic Cholestasis (PFIC) Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Progressive Familial Intrahepatic Cholestasis

MalaCards integrated aliases for Progressive Familial Intrahepatic Cholestasis:

Name: Progressive Familial Intrahepatic Cholestasis ¹² ²⁵ ⁵⁸ ³⁶ ²⁹ ⁶ ¹⁵

Cholestasis, Intrahepatic, Familial, Progressive ³⁹

Cholestasis, Progressive Familial Intrahepatic, ⁶

Cholestasis, Progressive Familial Intrahepatic ⁷⁴

Low Γ-Gt Familial Intrahepatic Cholestasis ²⁵

Abcb11-Related Intrahepatic Cholestasis ²⁵

Atp8b1-Related Intrahepatic Cholestasis ²⁵

Abcb4-Related Intrahepatic Cholestasis ²⁵

Pfic; Byler Disease ¹²

Mdr3 Deficiency ²⁵

Bsep Deficiency ²⁵

Fic1 Deficiency ²⁵

Byler Syndrome ²⁵

Byler Disease ²⁵

Pfic ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

progressive familial intrahepatic cholestasis
Inheritance: Autosomal recessive; Age of onset: Adolescent,Childhood,Infancy,Neonatal;

Classifications:

MalaCards categories:
Global: Metabolic diseases Rare diseases Cancer diseases Genetic diseases
Anatomical: Liver diseases Gastrointestinal diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the digestive system

Diseases of liver

Other diseases of liver

Other specified diseases of liver

Orphanet: ⁵⁸

Rare hepatic diseases

Inborn errors of metabolism

External Ids:

Disease Ontology ¹² DOID:0070221

KEGG ³⁶ H00624

NCIt ⁴⁹ C84453

SNOMED-CT ⁶⁷ 74162007

ICD10 via Orphanet ³³ K76.8

UMLS via Orphanet ⁷² C0268312

Orphanet ⁵⁸ ORPHA172

SNOMED-CT via HPO ⁶⁸ 108369006 123983008 127566005 more

UMLS ⁷¹ C0268312

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Summaries for Progressive Familial Intrahepatic Cholestasis

Genetics Home Reference : ²⁵ Progressive familial intrahepatic cholestasis (PFIC) is a disorder that causes progressive liver disease, which typically leads to liver failure. In people with PFIC, liver cells are less able to secrete a digestive fluid called bile. The buildup of bile in liver cells causes liver disease in affected individuals. Signs and symptoms of PFIC typically begin in infancy and are related to bile buildup and liver disease. Specifically, affected individuals experience severe itching, yellowing of the skin and whites of the eyes (jaundice), failure to gain weight and grow at the expected rate (failure to thrive), high blood pressure in the vein that supplies blood to the liver (portal hypertension), and an enlarged liver and spleen (hepatosplenomegaly). There are three known types of PFIC: PFIC1, PFIC2, and PFIC3. The types are also sometimes described as shortages of particular proteins needed for normal liver function. Each type has a different genetic cause. In addition to signs and symptoms related to liver disease, people with PFIC1 may have short stature, deafness, diarrhea, inflammation of the pancreas (pancreatitis), and low levels of fat-soluble vitamins (vitamins A, D, E, and K) in the blood. Affected individuals typically develop liver failure before adulthood. The signs and symptoms of PFIC2 are typically related to liver disease only; however, these signs and symptoms tend to be more severe than those experienced by people with PFIC1. People with PFIC2 often develop liver failure within the first few years of life. Additionally, affected individuals are at increased risk of developing a type of liver cancer called hepatocellular carcinoma. Most people with PFIC3 have signs and symptoms related to liver disease only. Signs and symptoms of PFIC3 usually do not appear until later in infancy or early childhood; rarely, people are diagnosed in early adulthood. Liver failure can occur in childhood or adulthood in people with PFIC3.

MalaCards based summary : Progressive Familial Intrahepatic Cholestasis, also known as cholestasis, intrahepatic, familial, progressive, is related to cholestasis, progressive familial intrahepatic, 5 and cholestasis, progressive familial intrahepatic, 4, and has symptoms including pruritus, diarrhea and icterus. An important gene associated with Progressive Familial Intrahepatic Cholestasis is ABCB11 (ATP Binding Cassette Subfamily B Member 11), and among its related pathways/superpathways are Bile secretion and Cholesterol metabolism. The drugs Glycerol and Estrogens have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and spleen, and related phenotypes are splenomegaly and hepatomegaly

Disease Ontology : ¹² An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood.

KEGG : ³⁶ Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of rare, genetic autosomal recessive disorders characterized by unremitting cholestasis and progression to liver failure. The course of the disease involves portal hypertension, liver failure, cirrhosis, hepatocellular carcinoma along with several extra hepatic manifestations. The pathogenesis of PFIC revolves around defective bile acid synthesis, transport, and/or excretion.

Wikipedia : ⁷⁴ Progressive familial intrahepatic cholestasis (PFIC) is a group of familial cholestatic conditions... more...

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Related Diseases for Progressive Familial Intrahepatic Cholestasis

Diseases in the Familial Intrahepatic Cholestasis family:

Cholestasis, Progressive Familial Intrahepatic, 1	Cholestasis, Benign Recurrent Intrahepatic, 1
Cholestasis, Progressive Familial Intrahepatic, 2	Cholestasis, Progressive Familial Intrahepatic, 3
Cholestasis, Benign Recurrent Intrahepatic, 2	Cholestasis, Progressive Familial Intrahepatic, 4
Cholestasis, Progressive Familial Intrahepatic, 5	Progressive Familial Intrahepatic Cholestasis
Myo5b-Related Progressive Familial Intrahepatic Cholestasis

Diseases related to Progressive Familial Intrahepatic Cholestasis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 126)

#	Related Disease	Score	Top Affiliating Genes
1	cholestasis, progressive familial intrahepatic, 5	34.0	TJP2 NR1H4 ATP8B1 ABCB4 ABCB11
2	cholestasis, progressive familial intrahepatic, 4	33.8	TJP2 SLC10A2 NR1H4 ATP8B1 ABCC2 ABCB4
3	cholestasis, progressive familial intrahepatic, 3	33.1	TJP2 SLC10A2 SLC10A1 NR1H4 ATP8B1 ABCG8
4	cholestasis, progressive familial intrahepatic, 2	32.8	TJP2 SLCO1B1 SLC10A2 SLC10A1 NR1H4 CYP7A1
5	cholestasis, progressive familial intrahepatic, 1	32.3	TMEM30A TJP2 SLC10A2 SLC10A1 NR1H4 LOC100505549
6	bile acid synthesis defect, congenital, 2	32.3	SLC10A1 NR1H4 CYP7A1 ABCB11
7	atp8b1 deficiency	31.7	NR1H4 ATP8B1 ABCB11
8	cholestasis, benign recurrent intrahepatic, 1	31.3	TMEM30A TJP2 SLC10A2 SLC10A1 NR1H4 CYP7A1
9	alagille syndrome 1	31.1	ATP8B1 ABCB4 ABCB11
10	cholestasis, intrahepatic, of pregnancy, 1	30.9	SLC10A2 NR1H4 GGT1 ATP8B1 ABCC2 ABCB4
11	cholangitis	30.9	NR1H4 GGT1 ABCB4 ABCB11
12	cholestasis, intrahepatic, of pregnancy 3	30.7	ABCB4 ABCB11
13	liver disease	30.5	TJP2 SLC10A1 NR1H4 GGT1 ATP8B1 ABCC2
14	cholestasis	30.5	USP53 TJP2 SLCO1B1 SLC10A2 SLC10A1 NR1H4
15	intrahepatic cholestasis of pregnancy	30.4	SLCO1B3 SLCO1B1 NR1H4 ATP8B1 ABCC2 ABCB4
16	biliary atresia	30.3	SLC10A2 SLC10A1 NR1H4 GGT1 ATP8B1 ABCB4
17	cholelithiasis	30.1	NR1H4 GGT1 CYP7A1 ABCG8 ABCG5 ABCB4
18	hypercholesterolemia, familial, 1	30.1	NR1H4 CYP7A1 ABCG8 ABCG5
19	familial intrahepatic cholestasis	30.1	TMEM30A TJP2 SLCO1B3 SLCO1B1 SLC10A2 NR1H4
20	lipid metabolism disorder	29.9	NR1H4 GGT1 CYP7A1
21	bilirubin metabolic disorder	29.9	SLCO1B3 SLCO1B1 GGT1 ATP8B1 ABCC2 ABCB4
22	primary biliary cirrhosis	29.5	SLCO1B3 SLCO1B1 SLC10A1 NR1H4 GGT1 CYP7A1
23	cholestasis, benign recurrent intrahepatic, 2	29.3	TJP2 SLC10A2 SLC10A1 NR1H4 CYP7A1 ATP8B1
24	myo5b-related progressive familial intrahepatic cholestasis	12.6
25	bile acid synthesis defect, congenital, 1	12.3
26	arthrogryposis, renal dysfunction, and cholestasis 1	11.4
27	liver cirrhosis	10.6
28	autosomal recessive disease	10.5
29	parenteral nutrition-associated cholestasis	10.5	GGT1 ABCB4
30	perforation of bile duct	10.5	GGT1 ATP8B1
31	diarrhea	10.5
32	autosomal dominant non-syndromic intellectual disability 3	10.5	ABCB4 ABCB11
33	suppurative cholangitis	10.4	GGT1 ABCB4
34	portal hypertension	10.4
35	colchicine resistance	10.4	ABCB11 ABCB1
36	bile duct cysts	10.4	GGT1 ATP8B1 ABCB4
37	splenomegaly	10.4
38	common bile duct disease	10.3	GGT1 ABCB4
39	methotrexate toxicity	10.3	SLCO1B1 ABCB1
40	hyperbilirubinemia, rotor type	10.3	SLCO1B3 SLCO1B1 ABCC2
41	hepatocellular carcinoma	10.3
42	rickets	10.3
43	47,xyy	10.3
44	sitosterolemia 2	10.2	ABCG8 ABCG5
45	sitosterolemia 1	10.2	ABCG8 ABCG5
46	functional diarrhea	10.2	SLC10A2 NR1H4 CYP7A1
47	pericholangitis	10.2	SLC10A2 SLC10A1 ABCB4 ABCB11
48	caroli disease	10.2	ATP8B1 ABCB4
49	arcus corneae	10.2	ABCG8 ABCG5
50	sclerosing cholangitis	10.2	NR1H4 GGT1 ABCC2 ABCB4 ABCB11

Graphical network of the top 20 diseases related to Progressive Familial Intrahepatic Cholestasis:

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Symptoms & Phenotypes for Progressive Familial Intrahepatic Cholestasis

Human phenotypes related to Progressive Familial Intrahepatic Cholestasis:

⁵⁸ ³¹ (show all 15)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	splenomegaly ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001744
2	hepatomegaly ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002240
3	malabsorption ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002024
4	short stature ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0004322
5	cognitive impairment ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0100543
6	failure to thrive ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001508
7	jaundice ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000952
8	abnormality of coagulation ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001928
9	delayed skeletal maturation ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002750
10	reduced bone mineral density ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0004349
11	hypocalcemia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002901
12	abnormal thrombocyte morphology ³¹	frequent (33%)		HP:0001872
13	neoplasm ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002664
14	abnormality of thrombocytes ⁵⁸		Frequent (79-30%)
15	cholestasis ⁵⁸		Very frequent (99-80%)

UMLS symptoms related to Progressive Familial Intrahepatic Cholestasis:

pruritus, diarrhea, icterus

MGI Mouse Phenotypes related to Progressive Familial Intrahepatic Cholestasis:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	9.83	ABCB1 ABCB11 ABCB4 ABCC2 ABCG5 ABCG8
2	digestive/alimentary	MP:0005381	9.7	ABCB1 ABCB4 ABCG5 ABCG8 CYP7A1 NR1H4
3	liver/biliary system	MP:0005370	9.44	ABCB1 ABCB11 ABCB4 ABCC2 ABCG5 ABCG8

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Drugs & Therapeutics for Progressive Familial Intrahepatic Cholestasis

Drugs for Progressive Familial Intrahepatic Cholestasis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Glycerol

Approved, Investigational

56-81-5

753

Synonyms:

1,2,3-propanetriol

1,2,3-Propanetriol

1,2,3-trihydroxypropane

1,2,3-Trihydroxypropane

Bulbold

Cristal

e 422

Emery 916

Glyceol opthalgan

Glycerin

Glycerin, anhydrous

Glycerin,anhydrous

Glycerine

glycérine

Glycerinum

Glyceritol

Glycerol

glycérol

Glycerolum

Glycyl alcohol

Glyrol

Glysanin

Glyzerin

Gro

IFP

Incorporation factor

Mackstat H 66

Monoctanoin component D

Oelsuess

Ölsüß

Osmoglyn

Pricerine 9091

Propanetriol

RG-S

Trihydroxypropane

Tryhydroxypropane

Estrogens

Lecithin

Gastrointestinal Agents

4-phenylbutyric acid

Protective Agents

Liver Extracts

Bile Acids and Salts

Alpha 1-Antitrypsin

Protein C Inhibitor

Interventional clinical trials:

(show all 19)

#	Name	Status	NCT ID	Phase	Drugs
1	An Open-label Extension Study to Evaluate Long-term Efficacy and Safety of A4250 in Children With Progressive Familial Intrahepatic Cholestasis Types 1 and 2 (PEDFIC 2)	Recruiting	NCT03659916	Phase 3	A4250 (odevixibat)
2	MRX-502: Randomized Double-blind Placebo-controlled Phase 3 Study to Evaluate the Efficacy and Safety of Maralixibat in the Treatment of Subjects With Progressive Familial Intrahepatic Cholestasis (PFIC) - MARCH-PFIC	Recruiting	NCT03905330	Phase 3	Maralixibat
3	A Double-Blind, Randomized, Placebo-Controlled, Phase 3 Study to Demonstrate Efficacy and Safety of A4250 in Children With Progressive Familial Intrahepatic Cholestasis Types 1 and 2 (PEDFIC 1)	Active, not recruiting	NCT03566238	Phase 3	A4250 (odevixibat);Placebo
4	An Open-label Extension Study to Evaluate the Long-term Safety and Efficacy of Maralixibat in the Treatment of Subjects With Progressive Familial Intrahepatic Cholestasis (PFIC)	Enrolling by invitation	NCT04185363	Phase 3	Maralixibat
5	Randomized Double-blind Placebo-controlled Phase 3 Study to Evaluate the Efficacy and Safety of Maralixibat (SHP625) in the Treatment of Pediatric Subjects With Progressive Familial Intrahepatic Cholestasis (PFIC)	Withdrawn	NCT03353454	Phase 3	Maralixibat;Placebo
6	Open Label Study of the Efficacy and Long Term Safety of LUM001, an Apical Sodium-Dependent Bile Acid Transporter Inhibitor (ASBTi), in the Treatment of Cholestatic Liver Disease in Pediatric Patients With Progressive Familial Intrahepatic Cholestasis	Completed	NCT02057718	Phase 2	LUM001
7	MRX-800: A Long-Term Safety Study of Maralixibat, an Apical Sodium Dependent Bile Acid Transporter Inhibitor (ASBTi), in the Treatment of Cholestatic Liver Disease in Subjects Who Previously Participated in a Maralixibat Study	Enrolling by invitation	NCT04168385	Phase 2	Maralixibat
8	Efficacy and Tolerance of RADIOEMBOLIZATION for Patients With Unresectable Intrahepatic Cholangiocarcinoma With Tumor Progression After First-line Therapy	Terminated	NCT01383746	Phase 1, Phase 2
9	Mutations and Polymorphisms of Gene ABCB4 Among Women Suffering From Intrahepatic Cholestasis of Pregnancy. A Study With a Control Group.	Completed	NCT00700232
10	Intralumenal Effects on Cholesterol Absorption/Synthesis	Completed	NCT00328211		Pluronic F-68
11	Search for Maternal Microchimerism in Swollen Portal Lymph Nodes of Infants With Biliary Atresia.	Completed	NCT02292862
12	Sulfation of Bile Acids as a Biomarker for Hepatobiliary Diseases	Recruiting	NCT01200082
13	NAtural Course and Prognosis of PFIC and Effect of Biliary Diversion (NAPPED Study), Meta-analysis of Individual Patient Data of PFIC Before and After Surgery (Bile Diversion or Liver Transplantation)	Enrolling by invitation	NCT03930810
14	Gastrostomy-Biliary Diversion: Innovative Management for Children With Bile Canalicular Transport Disorders	Not yet recruiting	NCT04071197
15	Transition From Buphenyl to RAVICTI for the Therapy of Byler Disease	No longer available	NCT01949766		Glycerol phenylbutyrate
16	Compassionate Use of Buphenyl® in the Treatment of Byler's Disease	No longer available	NCT01784718		Buphenyl
17	Expanded Access Protocol for an Intermediate Size Population - RAVICTI for Byler Disease	No longer available	NCT02094222		RAVICTI
18	Longitudinal Study of Genetic Causes of Intrahepatic Cholestasis (LOGIC)	Suspended	NCT00571272
19	Longitudinal Study of Mitochondrial Hepatopathies	Suspended	NCT01148550

Search NIH Clinical Center for Progressive Familial Intrahepatic Cholestasis

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Genetic Tests for Progressive Familial Intrahepatic Cholestasis

Genetic tests related to Progressive Familial Intrahepatic Cholestasis:

#	Genetic test	Affiliating Genes
1	Progressive Familial Intrahepatic Cholestasis ²⁹

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Anatomical Context for Progressive Familial Intrahepatic Cholestasis

MalaCards organs/tissues related to Progressive Familial Intrahepatic Cholestasis:

⁴⁰

Liver, Eye, Spleen, Pancreas, Skin, Bone, Lymph Node

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Publications for Progressive Familial Intrahepatic Cholestasis

Articles related to Progressive Familial Intrahepatic Cholestasis:

(show top 50) (show all 517)

#	Title	Authors	PMID	Year
1	Potential of ileal bile acid transporter inhibition as a therapeutic target in Alagille syndrome and progressive familial intrahepatic cholestasis. ⁶¹	Kamath BM...Verkade HJ	32492754	2020
2	Glycerol Phenylbutyrate Therapy in Progressive Familial Intrahepatic Cholestasis Type 2. ⁶¹	Almes M...Jacquemin E	32443059	2020
3	NR1H4-related Progressive Familial Intrahepatic Cholestasis 5: Further Evidence for Rapidly Progressive Liver Failure. ⁶¹	Himes RW...Moore DD	32443034	2020
4	The Largest Single Center Report on Pediatric Liver Transplantation: Experiences and Lessons Learned. ⁶¹	Nikeghbalian S...Salahi H	32541224	2020
5	Systematic Review and Meta-Analysis: Partial External Biliary Diversion in Progressive Familial Intrahepatic Cholestasis. ⁶¹	Verkade HJ...Lindstrom E	32433433	2020
6	Effects of partial internal biliary diversion on long-term outcomes in patients with progressive familial intrahepatic cholestasis: experience in 44 patients. ⁶¹	Foroutan HR...Ashraf MA	32206891	2020
7	A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis. ⁶¹	Kucukcongar Yavas A...Gunduz M	32229667	2020
8	Functional rescue of an ABCB11 mutant by ivacaftor: A new targeted pharmacotherapy approach in bile salt export pump deficiency. ⁶¹	Mareux E...Jacquemin E	32433800	2020
9	Novel ABCB4 mutation in a Chinese female patient with progressive familial intrahepatic cholestasis type 3: a case report. ⁶¹	Wu Z...Li M	32321542	2020
10	Phenotype-Genotype Correlation of North Indian Progressive Familial Intrahepatic Cholestasis type2 Children Shows p.Val444Ala and p.Asn591Ser Variants and Retained BSEP Expression. ⁶¹	Mitra S...Kumar Vasishta R	31335238	2020
11	Nasobiliary drainage prior to surgical biliary diversion in progressive familial intrahepatic cholestasis type II. ⁶¹	Jannone G...Sokal EM	32291498	2020
12	Clinical profiles and diagnostic challenges in 1158 children with rare hepatobiliary disorders. ⁶¹	Dong Y...Zhao P	32289814	2020
13	Drugs and hepatic transporters: A review. ⁶¹	Jetter A...Kullak-Ublick GA	31004787	2020
14	Glycerol Phenylbutyrate Therapy in Progressive Familial Intrahepatic Cholestasis Type 2. ⁶¹	Almes M...Jacquemin E	32205771	2020
15	Successful Treatment with Rituximab and Immunoadsorption for an Auto-Antibody Induced Bile Salt Export Pump Deficiency in a Liver Transplanted Patient. ⁶¹	Quintero J...Charco R	32206630	2020
16	Changes in plasma bile acid profiles after partial internal biliary diversion in PFIC2 patients. ⁶¹	Liu T...Wang JS	32309332	2020
17	ABCB4 disease mimicking morbus Wilson: A potential diagnostic pitfall. ⁶¹	Sticova E...Jirsa M	31728073	2020
18	ABCB4 disease: Many faces of one gene deficiency. ⁶¹	Sticova E...Jirsa M	31759867	2020
19	New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults: A case report. ⁶¹	Wei CS...Gronbak H	32089630	2020
20	Erratum to "Systematic review of progressive familial intrahepatic cholestasis" [Clin. Res. Hepatol. Gastroenterol. 43 (2019) 20-36]. ⁶¹	Baker A...Houwen RHJ	31926839	2020
21	NR1H4-related Progressive Familial Intrahepatic Cholestasis 5: Further Evidence for Rapidly Progressive Liver Failure. ⁶¹	Himes RW...Moore DD	32097368	2020
22	Treatment of rickets and dyslipidemia in twins with progressive familial intrahepatic cholestasis type 2. ⁶¹	Sura SR...Germain-Lee EL	32508937	2020
23	Gene therapy for progressive familial intrahepatic cholestasis type 3 in a clinically relevant mouse model. ⁶¹	Weber ND...Smerdou C	31836711	2019
24	Prevention of Cholestatic Liver Disease and Reduced Tumorigenicity in a Murine Model of PFIC Type 3 Using Hybrid AAV-piggyBac Gene Therapy. ⁶¹	Siew SM...Alexander IE	31099022	2019
25	Plectin Mutations in Progressive Familial Intrahepatic Cholestasis. ⁶¹	Wu SH...Chen HL	31269534	2019
26	Ileal Exclusion for Pruritus Treatment in Children with Progressive Familial Intrahepatic Cholestasis and other Cholestatic Diseases. ⁶¹	Van Vaisberg V...Tannuri U	31708211	2019
27	Effect of food on the pharmacokinetics and therapeutic efficacy of 4-phenylbutyrate in progressive familial intrahepatic cholestasis. ⁶¹	Nakano S...Hayashi H	31745229	2019
28	A Molecular Mechanism Underlying Genotype-Specific Intrahepatic Cholestasis Resulting From MYO5B Mutations. ⁶¹	Overeem AW...van Ijzendoorn SCD	31750554	2019
29	Pediatric Pure Red Cell Aplasia Caused by Tacrolimus After Living-Donor Liver Transplant. ⁶¹	Watanabe S...Nakamura K	31724928	2019
30	Technique and outcome of domino liver transplantation from patients with maple syrup urine disease: Expanding the donor pool for live donor liver transplantation. ⁶¹	Celik N...Khanna A	31556146	2019
31	Progressive familial intrahepatic cholestasis type-3 and multiple sclerosis: lessons from comorbidity. ⁶¹	De Masi R...De Donno A	31568708	2019
32	Genetic Causes of Liver Disease: When to Suspect a Genetic Etiology, Initial Lab Testing, and the Basics of Management. ⁶¹	Schonfeld EA...Brown RS	31582009	2019
33	Comorbidity between progressive familial intrahepatic cholestasis and atopic dermatitis in a 19-month-old child. ⁶¹	Panasiti I...Caminiti L	31630127	2019
34	ABCB4/MDR3 in health and disease - at the crossroads of biochemistry and medicine. ⁶¹	Prescher M...Schmitt L	30730833	2019
35	Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1. ⁶¹	Rhee ES...Yoo HW	31555573	2019
36	[Phenotype and genetic analysis of a pedigree affected with progressive familial intrahepatic cholestasis]. ⁶¹	Wu Q...Shi H	31400129	2019
37	Diagnostic Yield of an Algorithm for Neonatal and Infantile Cholestasis Integrating Next-Generation Sequencing. ⁶¹	Nicastro E...D'Antiga L	31160058	2019
38	Progressive Familial Intrahepatic Cholestasis in Korea: A Clinicopathological Study of Five Patients. ⁶¹	Kang HJ...Yu E	31091858	2019
39	Familial intrahepatic cholestasis: New and wide perspectives. ⁶¹	Vitale G...Andreone P	31105019	2019
40	Liver-directed gene therapy results in long-term correction of progressive familial intrahepatic cholestasis type 3 in mice. ⁶¹	Aronson SJ...Bosma PJ	30935993	2019
41	Biliary atresia combined with progressive familial intrahepatic cholestasis type 3: A case report and review of the literature. ⁶¹	Zhang BP...Dong C	31083246	2019
42	Beyond an Obvious Cause of Cholestasis in a Toddler: Compound Heterozygosity for ABCB11 Mutations. ⁶¹	Fotoulaki M...Knisely AS	31015375	2019
43	Persistent cholestasis resulting from duodenal papillary carcinoma in an adolescent male: A case report. ⁶¹	Fu H...Zhao R	31145285	2019
44	Expanding etiology of progressive familial intrahepatic cholestasis. ⁶¹	Henkel SA...Squires JE	31183005	2019
45	First report of successful transplantation of a pediatric donor liver graft after hypothermic machine perfusion. ⁶¹	Werner MJM...Porte RJ	30801955	2019
46	Posttransplant epithelioid inflammatory myofibroblastic sarcoma: A case report. ⁶¹	Garg R...Kashyap V	30971562	2019
47	Structural analogues of roscovitine rescue the intracellular traffic and the function of ER-retained ABCB4 variants in cell models. ⁶¹	Vauthier V...Falguieres T	31040306	2019
48	Progressive Familial Intrahepatic Cholestasis Presenting With an Intracranial Bleed and Mimicking Abusive Head Trauma. ⁶¹	Haney S...Truemper E	31083836	2019
49	Substrates of P4-ATPases: beyond aminophospholipids (phosphatidylserine and phosphatidylethanolamine). ⁶¹	Shin HW...Takatsu H	30509129	2019
50	Alloimmunity and Cholestasis After Liver Transplantation in Children With Progressive Familial Intrahepatic Cholestasis. ⁶¹	Krebs-Schmitt D...Grabhorn E	30664572	2019

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Genes for Progressive Familial Intrahepatic Cholestasis

Genes related to Progressive Familial Intrahepatic Cholestasis (2 elite genes):

(show all 30)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	ABCB11	ATP Binding Cassette Subfamily B Member 11	Protein Coding	440.61	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Gene name Variants (show sections)
2	USP53	Ubiquitin Specific Peptidase 53	Protein Coding	404.68	Pathogenic ⁶ DISEASES inferred ¹⁵
3	ATP8B1	ATPase Phospholipid Transporting 8B1	Protein Coding	38.49	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries Variants (show sections)
4	ABCB4	ATP Binding Cassette Subfamily B Member 4	Protein Coding	29.4	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
5	TJP2	Tight Junction Protein 2	Protein Coding	16.25	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
6	NR1H4	Nuclear Receptor Subfamily 1 Group H Member 4	Protein Coding	14.75	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
7	ABCC2	ATP Binding Cassette Subfamily C Member 2	Protein Coding	14.19	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
8	SLC10A2	Solute Carrier Family 10 Member 2	Protein Coding	14.06	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
9	TMEM30A	Transmembrane Protein 30A	Protein Coding	13.9	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
10	GGT1	Gamma-Glutamyltransferase 1	Protein Coding	13.48	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
11	ABCB1	ATP Binding Cassette Subfamily B Member 1	Protein Coding	13.12	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
12	SLCO1B1	Solute Carrier Organic Anion Transporter Family Member 1B1	Protein Coding	13.06	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
13	SLCO1B3	Solute Carrier Organic Anion Transporter Family Member 1B3	Protein Coding	12.95	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
14	FABP6	Fatty Acid Binding Protein 6	Protein Coding	12.69	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
15	MARCHF6	Membrane Associated Ring-CH-Type Finger 6	Protein Coding	11.47	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
16	LOC100505549	Uncharacterized LOC100505549	RNA Gene	8.67	GeneCards inferred via : Variants (show sections)
17	SLC10A1	Solute Carrier Family 10 Member 1	Protein Coding	7.38	DISEASES inferred ¹⁵
18	ABCG5	ATP Binding Cassette Subfamily G Member 5	Protein Coding	7.29	DISEASES inferred ¹⁵
19	ABCG8	ATP Binding Cassette Subfamily G Member 8	Protein Coding	7.05	DISEASES inferred ¹⁵
20	CYP7A1	Cytochrome P450 Family 7 Subfamily A Member 1	Protein Coding	6.99	DISEASES inferred ¹⁵
21	ATP11C	ATPase Phospholipid Transporting 11C	Protein Coding	6.95	DISEASES inferred ¹⁵
22	GGT3P	Gamma-Glutamyltransferase 3 Pseudogene	Pseudogene	6.94	GeneCards inferred via : Publications (show sections)
23	SLC51A	Solute Carrier Family 51 Subunit Alpha	Protein Coding	6.81	DISEASES inferred ¹⁵
24	ABCC4	ATP Binding Cassette Subfamily C Member 4	Protein Coding	6.78	DISEASES inferred ¹⁵
25	ATP8A1	ATPase Phospholipid Transporting 8A1	Protein Coding	6.78	DISEASES inferred ¹⁵
26	MYO5B	Myosin VB	Protein Coding	6.74	DISEASES inferred ¹⁵
27	ATP8A2	ATPase Phospholipid Transporting 8A2	Protein Coding	6.72	DISEASES inferred ¹⁵
28	ATP8B2	ATPase Phospholipid Transporting 8B2	Protein Coding	6.64	DISEASES inferred ¹⁵
29	ABCC3	ATP Binding Cassette Subfamily C Member 3	Protein Coding	6.6	DISEASES inferred ¹⁵
30	ABCD4	ATP Binding Cassette Subfamily D Member 4	Protein Coding	6.59	GeneCards inferred via : Publications (show sections)

Sources

Variations for Progressive Familial Intrahepatic Cholestasis

ClinVar genetic disease variations for Progressive Familial Intrahepatic Cholestasis:

⁶ (show all 14) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	USP53	NM_019050.2(USP53):c.1012C>T (p.Arg338Ter)	SNV	Pathogenic	694273		4:120188514-120188514	4:119267359-119267359
2	ABCB11	NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly)	SNV	Pathogenic	6590	rs11568372	2:169847329-169847329	2:168990819-168990819
3	ATP8B1	NM_005603.6(ATP8B1):c.2637G>A (p.Leu879=)	SNV	Conflicting interpretations of pathogenicity	327475	rs199716374	18:55328476-55328476	18:57661244-57661244
4	ATP8B1	NM_005603.6(ATP8B1):c.3450C>T (p.Ile1150=)	SNV	Uncertain significance	327469	rs886054009	18:55317680-55317680	18:57650448-57650448
5	ABCB11	NM_003742.4(ABCB11):c.*193G>C	SNV	Uncertain significance	332019	rs886055061	2:169779939-169779939	2:168923429-168923429
6	ABCB11	NM_003742.4(ABCB11):c.2834G>A (p.Ser945Asn)	SNV	Uncertain significance	332024	rs200857579	2:169791916-169791916	2:168935406-168935406
7	ABCB11	NM_003742.4(ABCB11):c.1699G>A (p.Val567Ile)	SNV	Uncertain significance	332032	rs886055066	2:169826665-169826665	2:168970155-168970155
8	ATP8B1	NM_005603.6(ATP8B1):c.2052C>T (p.Asp684=)	SNV	Uncertain significance	327482	rs370484798	18:55336595-55336595	18:57669363-57669363
9	ATP8B1	NM_005603.6(ATP8B1):c.2098-30_2098-28dup	duplication	Likely benign	327477	rs34422185	18:55335786-55335787	18:57668554-57668555
10	ATP8B1	NM_005603.6(ATP8B1):c.2098-30_2098-26dup	duplication	Likely benign	327479	rs34422185	18:55335786-55335787	18:57668554-57668555
11	ATP8B1	NM_005603.6(ATP8B1):c.2098-30_2098-24dup	duplication	Likely benign	327481	rs34422185	18:55335786-55335787	18:57668554-57668555
12	ATP8B1	NM_005603.6(ATP8B1):c.2098-30_2098-27dup	duplication	Benign	327478	rs34422185	18:55335786-55335787	18:57668554-57668555
13	ATP8B1	NM_005603.6(ATP8B1):c.*2015del	deletion	Benign	327438	rs35833803	18:55313705-55313705	18:57646473-57646473
14	ATP8B1	NM_005603.6(ATP8B1):c.2098-30_2098-25dup	duplication	Benign	327480	rs34422185	18:55335786-55335787	18:57668554-57668555

Cosmic variations for Progressive Familial Intrahepatic Cholestasis:

⁹ (show top 50) (show all 15626)

#	Cosmic Mut ID	Gene Symbol	COSMIC Disease Classification (Primary site, Site subtype, Primary histology, Histology subtype)	Mutation CDS	Mutation AA	GRCh38 Location	Conf
1	COSM97724722	ZXDB	liver,NS,carcinoma,hepatocellular carcinoma	c.1308C>A	p.D436E	23:57593356-57593356	12
2	COSM94436083	ZSWIM1	liver,NS,carcinoma,hepatocellular carcinoma	c.1399A>C	p.S467R	20:45883991-45883991	12
3	COSM94063771	ZSCAN20	liver,NS,carcinoma,hepatocellular carcinoma	c.2314G>T	p.G772W	1:33494658-33494658	12
4	COSM88264637	ZRSR2	liver,NS,carcinoma,hepatocellular carcinoma	c.304G>T	p.E102*	23:15803788-15803788	12
5	COSM131494492	ZNRF3	liver,NS,carcinoma,hepatocellular carcinoma	c.1159A>G	p.M387V	22:29049340-29049340	12
6	COSM102131817	ZNFX1	liver,NS,carcinoma,hepatocellular carcinoma	c.2580G>A	p.L860=	20:49257501-49257501	12
7	COSM113317148	ZNF853	liver,NS,carcinoma,hepatocellular carcinoma	c.1610G>T	p.G537V	7:6622601-6622601	12
8	COSM128686611	ZNF829	liver,NS,carcinoma,hepatocellular carcinoma	c.1072T>A	p.F358I	19:36891962-36891962	12
9	COSM123949383	ZNF827	liver,NS,carcinoma,hepatocellular carcinoma	c.1741C>T	p.L581=	4:145885684-145885684	12
10	COSM86004822	ZNF653	liver,NS,carcinoma,hepatocellular carcinoma	c.1553A>C	p.H518P	19:11485673-11485673	12
11	COSM139729931	ZNF615	liver,NS,carcinoma,hepatocellular carcinoma	c.141G>A	p.V47=	19:52002156-52002156	12
12	COSM91868668	ZNF536	liver,NS,carcinoma,hepatocellular carcinoma	c.3900G>T	p.K1300N	19:30557161-30557161	12
13	COSM91880764	ZNF536	liver,NS,carcinoma,hepatocellular carcinoma	c.2171-78T>G	p.?	19:30534769-30534769	12
14	COSM94799980	ZNF521	liver,NS,carcinoma,hepatocellular carcinoma	c.3658+205G>A	p.?	18:25194955-25194955	12
15	COSM90582798	ZNF518B	liver,NS,carcinoma,hepatocellular carcinoma	c.1624G>T	p.E542*	4:10444705-10444705	12
16	COSM87577038	ZNF462	liver,NS,carcinoma,hepatocellular carcinoma	c.6715G>T	p.V2239L	9:106974156-106974156	12
17	COSM151538615	ZNF385B	liver,NS,carcinoma,hepatocellular carcinoma	c.253+23785G>T	p.?	2:179745718-179745718	12
18	COSM111609487	ZNF276	liver,NS,carcinoma,hepatocellular carcinoma	c.1444C>G	p.L482V	16:89734008-89734008	12
19	COSM92353291	ZNF26	liver,NS,carcinoma,hepatocellular carcinoma	c.1010C>T	p.T337I	12:133010889-133010889	12
20	COSM95253159	ZNF217	liver,NS,carcinoma,hepatocellular carcinoma	c.*194A>T	p.?	20:53569094-53569094	12
21	COSM94505616	ZMYND12	liver,NS,carcinoma,hepatocellular carcinoma	c.425-1G>T	p.?	1:42440026-42440026	12
22	COSM89943752	ZMYM4	liver,NS,carcinoma,hepatocellular carcinoma	c.86-8201G>T	p.?	1:35350724-35350724	12
23	COSM101398456	ZIC2	liver,NS,carcinoma,hepatocellular carcinoma	c.-18C>T	p.?	13:99982047-99982047	12
24	COSM92703312	ZGPAT	liver,NS,carcinoma,hepatocellular carcinoma	c.*197C>A	p.?	20:63736116-63736116	12
25	COSM92032561	ZFYVE26	liver,NS,carcinoma,hepatocellular carcinoma	c.663C>A	p.A221=	14:67807621-67807621	12
26	COSM84360265	ZFR	liver,NS,carcinoma,hepatocellular carcinoma	c.1979+14C>A	p.?	5:32395145-32395145	12
27	COSM84362097	ZFR	liver,NS,carcinoma,hepatocellular carcinoma	c.2882C>T	p.P961L	5:32364229-32364229	12
28	COSM85178149	ZFP36L2	liver,NS,carcinoma,hepatocellular carcinoma	c.910T>G	p.S304A	2:43224894-43224894	12
29	COSM87884183	ZFP28	liver,NS,carcinoma,hepatocellular carcinoma	c.1865G>A	p.C622Y	19:56554650-56554650	12
30	COSM127392053	ZFHX4	liver,NS,carcinoma,hepatocellular carcinoma	c.10601C>G	p.S3534C	8:76864315-76864315	12
31	COSM149268658	ZFHX3	liver,NS,carcinoma,hepatocellular carcinoma	c.9997C>T	p.Q3333*	16:72788279-72788279	12
32	COSM149328017	ZFHX3	liver,NS,carcinoma,hepatocellular carcinoma	c.10852C>A	p.P3618T	16:72787424-72787424	12
33	COSM149281099	ZFHX3	liver,NS,carcinoma,hepatocellular carcinoma	c.8342A>G	p.Q2781R	16:72794340-72794340	12
34	COSM144309108	ZEB2	liver,NS,carcinoma,hepatocellular carcinoma	c.1141A>G	p.M381V	2:144400046-144400046	12
35	COSM87420403	ZCCHC14	liver,NS,carcinoma,hepatocellular carcinoma	c.71A>T	p.Q24L	16:87491757-87491757	12
36	COSM98996636	ZC3H7A	liver,NS,carcinoma,hepatocellular carcinoma	c.2866A>G	p.N956D	16:11751367-11751367	12
37	COSM92255466	ZC3H15	liver,NS,carcinoma,hepatocellular carcinoma	c.*55T>G	p.?	2:186508788-186508788	12
38	COSM85044193	ZC3H14	liver,NS,carcinoma,hepatocellular carcinoma	c.*10873G>A	p.?	14:88622624-88622624	12
39	COSM106743522	ZBTB7B	liver,NS,carcinoma,hepatocellular carcinoma	c.*635G>C	p.?	1:155017320-155017320	12
40	COSM93795261	ZBTB41	liver,NS,carcinoma,hepatocellular carcinoma	c.1700G>A	p.R567K	1:197178489-197178489	12
41	COSM103188148	ZBTB40	liver,NS,carcinoma,hepatocellular carcinoma	c.3339C>A	p.F1113L	1:22524258-22524258	12
42	COSM91488114	ZBTB4	liver,NS,carcinoma,hepatocellular carcinoma	c.454G>T	p.G152C	17:7466348-7466348	12
43	COSM95291738	ZBTB37	liver,NS,carcinoma,hepatocellular carcinoma	c.620G>C	p.S207T	1:173870845-173870845	12
44	COSM107993551	ZBTB10	liver,NS,carcinoma,hepatocellular carcinoma	c.2383A>G	p.I795V	8:80519295-80519295	12
45	COSM107993152	ZBTB10	liver,NS,carcinoma,hepatocellular carcinoma	c.2208A>G	p.T736=	8:80518852-80518852	12
46	COSM86073785	ZBED4	liver,NS,carcinoma,hepatocellular carcinoma	c.2225A>C	p.E742A	22:49885887-49885887	12
47	COSM142300159	YTHDF3	liver,NS,carcinoma,hepatocellular carcinoma	c.1580A>G	p.N527S	8:63187582-63187582	12
48	COSM90849676	YOD1	liver,NS,carcinoma,hepatocellular carcinoma	c.*157T>C	p.?	1:207048863-207048863	12
49	COSM90620829	YME1L1	liver,NS,carcinoma,hepatocellular carcinoma	c.2006A>G	p.H669R	10:27116230-27116230	12
50	COSM86902201	YEATS2	liver,NS,carcinoma,hepatocellular carcinoma	c.501C>T	p.N167=	3:183722100-183722100	12

Sources

Expression for Progressive Familial Intrahepatic Cholestasis

Search GEO for disease gene expression data for Progressive Familial Intrahepatic Cholestasis.

Sources

Pathways for Progressive Familial Intrahepatic Cholestasis

Pathways related to Progressive Familial Intrahepatic Cholestasis according to KEGG:

³⁶

#	Name	Kegg Source Accession
1	Bile secretion	hsa04976
2	Cholesterol metabolism	hsa04979
3	Tight junction	hsa04530

Pathways related to Progressive Familial Intrahepatic Cholestasis according to GeneCards Suite gene sharing:

(show all 21)

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism ⁶⁵ Show member pathways Metabolic pathways ³⁶ Metabolism of lipids and lipoproteins ⁶⁵	13.96	SLCO1B3 SLCO1B1 SLC10A2 SLC10A1 NR1H4 GGT1
2	Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds ⁶⁵ Show member pathways Bicarbonate transporters ⁶⁵ Cation-coupled Chloride cotransporters ⁶⁵ Class II GLUTs ⁶⁵ Facilitative Na+-independent glucose transporters ⁶⁵ Inositol transporters ⁶⁵ Multifunctional anion exchangers ⁶⁵ Na+/Cl- dependent neurotransmitter transporters ⁶⁵ Na+-dependent glucose transporters ⁶⁵ Organic anion transport ⁶⁵ Organic anion transporters ⁶⁵ Organic cation transport ⁶⁵ Organic cation/anion/zwitterion transport ⁶⁵ Proton/oligopeptide cotransporters ⁶⁵ Proton-coupled monocarboxylate transport ⁶⁵ Rhesus glycoproteins mediate ammonium transport. ⁶⁵ SLC-mediated transmembrane transport ⁶⁵ Sodium/Calcium exchangers ⁶⁵ Sodium/Proton exchangers ⁶⁵ Sodium-coupled phosphate cotransporters ⁶⁵ Sodium-coupled sulphate, di- and tri-carboxylate transporters ⁶⁵ Transmembrane transport of small molecules ⁶⁵ Transport of inorganic cations/anions and amino acids/oligopeptides ⁶⁵ Type II Na+/Pi cotransporters ⁶⁵	13.25	SLCO1B3 SLCO1B1 ATP8B1 ABCG8 ABCG5 ABCC2
3	Synthesis of bile acids and bile salts ⁶⁵ Show member pathways Bile acid and bile salt metabolism ⁶⁵ bile acid biosynthesis, neutral pathway ¹ Primary bile acid biosynthesis ³⁶ Recycling of bile acids and salts ⁶⁵ Synthesis of bile acids and bile salts via 24-hydroxycholesterol ⁶⁵ Synthesis of bile acids and bile salts via 27-hydroxycholesterol ⁶⁵ Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol ⁶⁵	12.1	SLCO1B3 SLCO1B1 SLC10A2 SLC10A1 NR1H4 FABP6
4	Hepatic ABC Transporters ⁶³ Show member pathways MODY (Maturity-Onset Diabetes of Young) ⁶³	11.94	SLCO1B1 SLC10A1 ABCC2 ABCB4 ABCB11 ABCB1
5	Blood-Brain Barrier: Anatomy ⁶⁴ Show member pathways Blood-Brain Barrier and Immune Cell Transmigration: Overview ⁶⁴	11.93	SLCO1B1 ABCC2 ABCB1
6	Statin Pathway ¹ Show member pathways Cholesterol metabolism ³⁶ Composition of Lipid Particles ¹ Statin Pathway, Pharmacodynamics ⁶⁰	11.93	CYP7A1 ABCG8 ABCG5 ABCB11 ABCB1
7	Statin Pathway - Generalized, Pharmacokinetics ⁶⁰ Show member pathways Anti-diabetic Drug Nateglinide Pathway, Pharmacokinetics ⁶⁰ Anti-diabetic Drug Repaglinide Pathway, Pharmacokinetics ⁶⁰ Atorvastatin/Lovastatin/Simvastatin Pathway, Pharmacokinetics ⁶⁰ Clobazam Pathway, Pharmacokinetics ⁶⁰ Diclofenac Metabolic Pathway ¹ Diclofenac Pathway, Pharmacokinetics ⁶⁰ Fluvastatin Pathway, Pharmacokinetics ⁶⁰ Ibuprofen Pathway, Pharmacokinetics ⁶⁰ Pravastatin Pathway, Pharmacokinetics ⁶⁰ Rosiglitazone Pathway, Pharmacokinetics ⁶⁰ Rosuvastatin Pathway, Pharmacokinetics ⁶⁰	11.89	SLCO1B3 SLCO1B1 ABCC2 ABCB11 ABCB1
8	Carvedilol Pathway, Pharmacokinetics ⁶⁰ Show member pathways Clopidogrel Pathway, Pharmacokinetics ⁶⁰ Codeine and Morphine Metabolism ¹ Codeine and Morphine Pathway, Pharmacokinetics ⁶⁰ Ivacaftor pathway, pharmacokinetics/pharmacodynamics ⁶⁰ Losartan Pathway, Pharmacokinetics ⁶⁰ Macrolide Antibiotic Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰ Oxycodone Pathway, Pharmacokinetics ⁶⁰ Tacrolimus/Cyclosporine Pathway, Pharmacokinetics ⁶⁰ Tramadol Pharmacokinetics ⁶⁰	11.65	SLCO1B3 SLCO1B1 ABCC2 ABCB1
9	Irinotecan Pathway, Pharmacokinetics ⁶⁰ Show member pathways Irinotecan Pathway ¹ Irinotecan Pathway, Pharmacodynamics ⁶⁰ Mycophenolic acid Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰	11.5	SLCO1B1 ABCC2 ABCB1
10	Ponatinib Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰ Show member pathways Bosutinib Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰ Imatinib Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰ Nilotinib Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰ Taxane Pathway, Pharmacokinetics ⁶⁰	11.44	SLCO1B3 ABCC2 ABCB1
11	Bile secretion ³⁶	11.36	SLCO1B3 SLCO1B1 SLC10A2 SLC10A1 NR1H4 CYP7A1
12	Crizotinib Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰	11.29	SLCO1B3 SLCO1B1 ABCB1
13	Nuclear Receptors in Lipid Metabolism and Toxicity ¹	11.24	NR1H4 CYP7A1 ABCG5 ABCC2 ABCB4 ABCB11
14	Pazopanib Pathway, Pharmacokinetics ⁶⁰ Show member pathways Sunitinib Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰	11.22	SLCO1B3 SLCO1B1 ABCB1
15	Methotrexate Pathway, Pharmacokinetics ⁶⁰ Show member pathways Methotrexate Pathway (Brain Cell), Pharmacokinetics ⁶⁰	11.01	SLCO1B3 SLCO1B1 ABCC2 ABCB1
16	Farnesoid X Receptor Pathway ¹	11	SLC10A1 NR1H4 CYP7A1 ABCB4 ABCB11
17	Gemtuzumab ozogamicin Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰	10.95	ABCC2 ABCB1
18	Lamivudine Pathway, Pharmacokinetics/Pharmacodynamics ⁶⁰	10.84	ABCC2 ABCB1
19	Lamotrigine Pathway, Pharmacokinetics and Pharmacodynamics ⁶⁰	10.75	ABCC2 ABCB1
20	Drug Induction of Bile Acid Pathway ¹	10.73	SLCO1B1 SLC10A1 NR1H4 CYP7A1 ABCC2 ABCB11
21	Vinka Alkaloid Pathway, Pharmacokinetics ⁶⁰	10.57	ABCC2 ABCB1

Sources

GO Terms for Progressive Familial Intrahepatic Cholestasis

Cellular components related to Progressive Familial Intrahepatic Cholestasis according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	membrane	GO:0016020	10.25	TMEM30A TJP2 SLCO1B3 SLCO1B1 SLC10A2 SLC10A1
2	plasma membrane	GO:0005886	10.21	TMEM30A TJP2 SLCO1B3 SLCO1B1 SLC10A2 SLC10A1
3	integral component of membrane	GO:0016021	10.13	TMEM30A SLCO1B3 SLCO1B1 SLC10A2 SLC10A1 MARCHF6
4	integral component of plasma membrane	GO:0005887	9.85	SLCO1B3 SLCO1B1 SLC10A2 SLC10A1 ATP8B1 ABCG8
5	ATP-binding cassette (ABC) transporter complex	GO:0043190	9.4	ABCG8 ABCG5
6	apical plasma membrane	GO:0016324	9.23	TMEM30A SLC10A2 ATP8B1 ABCG8 ABCG5 ABCC2
7	intercellular canaliculus	GO:0046581	9.13	ABCC2 ABCB4 ABCB11

Biological processes related to Progressive Familial Intrahepatic Cholestasis according to GeneCards Suite gene sharing:

(show all 23)

#	Name	GO ID	Score	Top Affiliating Genes
1	response to drug	GO:0042493	9.89	ABCG8 ABCG5 ABCC2 ABCB1
2	phospholipid transport	GO:0015914	9.69	TMEM30A ATP8B1 ABCG8
3	cholesterol homeostasis	GO:0042632	9.67	NR1H4 CYP7A1 ABCG8 ABCG5
4	transmembrane transport	GO:0055085	9.65	SLCO1B3 SLCO1B1 SLC10A2 SLC10A1 ABCG8 ABCG5
5	lipid transport	GO:0006869	9.63	TMEM30A FABP6 ATP8B1 ABCG8 ABCG5 ABCB4
6	cholesterol efflux	GO:0033344	9.61	ABCG8 ABCG5
7	sodium-independent organic anion transport	GO:0043252	9.61	SLCO1B3 SLCO1B1
8	sterol transport	GO:0015918	9.6	ABCG8 ABCG5
9	bile acid metabolic process	GO:0008206	9.58	NR1H4 ATP8B1
10	transepithelial transport	GO:0070633	9.58	ABCC2 ABCB1
11	intestinal cholesterol absorption	GO:0030299	9.57	ABCG8 ABCG5
12	cellular response to bile acid	GO:1903413	9.56	NR1H4 ABCB4
13	phospholipid translocation	GO:0045332	9.56	TMEM30A ATP8B1 ABCB4 ABCB1
14	regulation of bile acid biosynthetic process	GO:0070857	9.55	NR1H4 CYP7A1
15	aminophospholipid transport	GO:0015917	9.54	TMEM30A ATP8B1
16	drug transmembrane transport	GO:0006855	9.52	TMEM30A ATP8B1
17	organic anion transport	GO:0015711	9.5	SLCO1B3 SLCO1B1 ABCC2
18	canalicular bile acid transport	GO:0015722	9.49	ABCC2 ABCB11
19	drug transport across blood-brain barrier	GO:1990962	9.48	ABCC2 ABCB1
20	ceramide translocation	GO:0099040	9.46	ABCB4 ABCB1
21	negative regulation of intestinal cholesterol absorption	GO:0045796	9.43	ABCG8 ABCG5
22	negative regulation of intestinal phytosterol absorption	GO:0010949	9.4	ABCG8 ABCG5
23	bile acid and bile salt transport	GO:0015721	9.23	SLCO1B3 SLCO1B1 SLC10A2 SLC10A1 NR1H4 ATP8B1

Molecular functions related to Progressive Familial Intrahepatic Cholestasis according to GeneCards Suite gene sharing:

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	ATP binding	GO:0005524	10.04	ATP8B1 ABCG8 ABCG5 ABCC2 ABCB4 ABCB11
2	intermembrane cholesterol transfer activity	GO:0120020	9.52	ABCG8 ABCG5
3	sodium-independent organic anion transmembrane transporter activity	GO:0015347	9.51	SLCO1B3 SLCO1B1
4	xenobiotic transmembrane transporter activity	GO:0042910	9.48	ABCC2 ABCB1
5	organic anion transmembrane transporter activity	GO:0008514	9.46	SLCO1B3 ABCC2
6	bile acid:sodium symporter activity	GO:0008508	9.43	SLC10A2 SLC10A1
7	ATPase activity	GO:0016887	9.43	ABCG8 ABCG5 ABCC2 ABCB4 ABCB11 ABCB1
8	phosphatidylcholine-translocating ATPase activity	GO:0090554	9.4	ABCB4 ABCB1
9	aminophospholipid transmembrane transporter activity	GO:0015247	9.37	TMEM30A ATP8B1
10	bile acid transmembrane transporter activity	GO:0015125	9.33	SLCO1B3 SLCO1B1 SLC10A1
11	xenobiotic transmembrane transporting ATPase activity	GO:0008559	9.32	ABCC2 ABCB1
12	ceramide-translocating ATPase activity	GO:0099038	9.26	ABCB4 ABCB1
13	ATPase activity, coupled to transmembrane movement of substances	GO:0042626	9.1	ABCG8 ABCG5 ABCC2 ABCB4 ABCB11 ABCB1

Sources

Sources for Progressive Familial Intrahepatic Cholestasis

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Progressive Familial Intrahepatic Cholestasis (PFIC)

Aliases & Classifications for Progressive Familial Intrahepatic Cholestasis

MalaCards integrated aliases for Progressive Familial Intrahepatic Cholestasis:

Characteristics:

Orphanet epidemiological data:

Classifications:

External Ids:

Summaries for Progressive Familial Intrahepatic Cholestasis

Related Diseases for Progressive Familial Intrahepatic Cholestasis

Diseases in the Familial Intrahepatic Cholestasis family:

Diseases related to Progressive Familial Intrahepatic Cholestasis via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Progressive Familial Intrahepatic Cholestasis:

Symptoms & Phenotypes for Progressive Familial Intrahepatic Cholestasis

Human phenotypes related to Progressive Familial Intrahepatic Cholestasis:

UMLS symptoms related to Progressive Familial Intrahepatic Cholestasis:

MGI Mouse Phenotypes related to Progressive Familial Intrahepatic Cholestasis:

Drugs & Therapeutics for Progressive Familial Intrahepatic Cholestasis

Drugs for Progressive Familial Intrahepatic Cholestasis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Genetic Tests for Progressive Familial Intrahepatic Cholestasis

Genetic tests related to Progressive Familial Intrahepatic Cholestasis:

Anatomical Context for Progressive Familial Intrahepatic Cholestasis

MalaCards organs/tissues related to Progressive Familial Intrahepatic Cholestasis:

Publications for Progressive Familial Intrahepatic Cholestasis

Articles related to Progressive Familial Intrahepatic Cholestasis:

Genes for Progressive Familial Intrahepatic Cholestasis

Genes related to Progressive Familial Intrahepatic Cholestasis (2 elite genes):

Variations for Progressive Familial Intrahepatic Cholestasis

ClinVar genetic disease variations for Progressive Familial Intrahepatic Cholestasis:

Cosmic variations for Progressive Familial Intrahepatic Cholestasis:

Expression for Progressive Familial Intrahepatic Cholestasis

Pathways for Progressive Familial Intrahepatic Cholestasis

Pathways related to Progressive Familial Intrahepatic Cholestasis according to KEGG:

Pathways related to Progressive Familial Intrahepatic Cholestasis according to GeneCards Suite gene sharing:

GO Terms for Progressive Familial Intrahepatic Cholestasis

Cellular components related to Progressive Familial Intrahepatic Cholestasis according to GeneCards Suite gene sharing:

Biological processes related to Progressive Familial Intrahepatic Cholestasis according to GeneCards Suite gene sharing:

Molecular functions related to Progressive Familial Intrahepatic Cholestasis according to GeneCards Suite gene sharing:

Sources for Progressive Familial Intrahepatic Cholestasis