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

MedlinePlus Genetics: ⁴² 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, progressive familial intrahepatic, 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 ATP8B1 (ATPase Phospholipid Transporting 8B1), and among its related pathways/superpathways are Metabolism and Transport of inorganic cations/anions and amino acids/oligopeptides. The drugs Bile Acids and Salts and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include liver, pancreas and spleen, and related phenotypes are failure to thrive and splenomegaly

Orphanet: ⁵⁸ Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders of childhood that disrupt bile formation and present with cholestasis of hepatocellular origin.

Disease Ontology: ¹¹ 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.

Wikipedia: ⁷⁵ 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 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	Cholestasis, Progressive Familial Intrahepatic, 6
Cholestasis, Progressive Familial Intrahepatic, 8	Cholestasis, Progressive Familial Intrahepatic, 9
Cholestasis, Progressive Familial Intrahepatic, 10	Cholestasis, Progressive Familial Intrahepatic, 11
Cholestasis, Progressive Familial Intrahepatic, 12	Progressive Familial Intrahepatic Cholestasis
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 156)

#	Related Disease	Score	Top Affiliating Genes
1	cholestasis, progressive familial intrahepatic, 5	32.9	USP53 TJP2 SLC10A2 NR1H4 MYO5B CYP7A1
2	cholestasis, progressive familial intrahepatic, 4	32.9	USP53 TJP2 SLC51A SLC10A2 NR1H4 MYO5B
3	cholestasis, progressive familial intrahepatic, 2	32.8	TJP2 SLC51B SLC51A SLC10A2 SLC10A1 NR1H4
4	cholestasis, progressive familial intrahepatic, 3	32.6	USP53 TJP2 SLC51B SLC51A SLC10A2 SLC10A1
5	familial intrahepatic cholestasis	32.6	SLC51A ATP8B1 ABCB11
6	cholestasis, progressive familial intrahepatic, 1	32.4	USP53 TMEM30A TJP2 SLC51B SLC51A SLC10A2
7	intrahepatic cholestasis	32.1	TMEM30A SLC51A SLC10A2 NR1H4 FABP6 ATP8B1
8	atp8b1 deficiency	31.7	ATP8B1 ABCB11
9	cholestasis, benign recurrent intrahepatic, 1	31.6	TMEM30A TJP2 SLC51B SLC51A SLC10A2 SLC10A1
10	cholestasis	31.5	USP53 TJP2 SLC51B SLC51A SLC10A2 SLC10A1
11	liver disease	31.3	USP53 TJP2 SLC10A2 SLC10A1 NR1H4 ATP8B1
12	alagille syndrome 1	31.3	ATP8B1 ABCB4 ABCB11
13	diarrhea	31.2	SLC51B SLC51A SLC10A2 MYO5B CFTR ABCC2
14	cholangitis	31.1	NR1H4 CFTR ABCB4 ABCB11
15	biliary atresia	31.0	SLC10A2 SLC10A1 NR1H4 ABCB4 ABCB11
16	cholelithiasis	31.0	NR1H4 CYP7A1 ABCG8 ABCG5 ABCB4
17	cholestasis, intrahepatic, of pregnancy 3	31.0	TJP2 ATP8B1 ABCB4 ABCB11
18	cholestasis, benign recurrent intrahepatic, 2	30.8	TMEM30A TJP2 ATP8B1 ABCC2 ABCB4 ABCB11
19	microvillus inclusion disease	30.8	MYO5B CFTR ATP8B1 ABCB11
20	lipid metabolism disorder	30.6	NR1H4 CYP7A1 ABCG8 ABCG5
21	urea cycle disorder	30.6	CFTR ATP8B1 ABCB11
22	gallbladder disease	30.6	NR1H4 CFTR ABCG8 ABCG5 ABCB4 ABCB11
23	primary biliary cholangitis	30.5	SLC51B SLC51A SLC10A2 SLC10A1 NR1H4 CYP7A1
24	intrahepatic cholestasis of pregnancy	30.4	TJP2 SLC51B SLC51A SLC10A2 SLC10A1 NR1H4
25	dubin-johnson syndrome	30.4	ATP8B1 ABCC2 ABCB4 ABCB11
26	sclerosing cholangitis	30.4	SLC51A SLC10A2 SLC10A1 NR1H4 CYP7A1 ABCB4
27	hypercholesterolemia, familial, 1	30.3	SLC10A2 NR1H4 CYP7A1 ABCG8 ABCG5
28	cholangitis, primary sclerosing	30.1	SLC51A SLC10A2 SLC10A1 NR1H4 CYP7A1 CFTR
29	bilirubin metabolic disorder	29.7	TMEM30A SLC51A SLC10A2 SLC10A1 NR1H4 CYP7A1
30	cholestasis, progressive familial intrahepatic, 9	11.5
31	cholestasis, progressive familial intrahepatic, 10	11.5
32	bile acid synthesis defect, congenital, 1	11.4
33	gallbladder disease 1	11.4
34	myo5b-related progressive familial intrahepatic cholestasis	11.4
35	cholestasis, progressive familial intrahepatic, 6	11.3
36	cholestasis, progressive familial intrahepatic, 8	11.3
37	cholestasis, progressive familial intrahepatic, 12	11.3
38	cholestasis, progressive familial intrahepatic, 7, with or without hearing loss	10.9
39	liver cirrhosis	10.7
40	non-alcoholic fatty liver disease	10.6
41	portal hypertension	10.6
42	splenomegaly	10.5
43	hemochromatosis, neonatal	10.4
44	congenital hemidysplasia with ichthyosiform erythroderma and limb defects	10.4
45	vitamin k deficiency bleeding	10.4
46	obstructive jaundice	10.4
47	cholecystitis	10.4
48	children's interstitial lung disease	10.4
49	oto-palatal-digital syndrome	10.4
50	bile duct cysts	10.4	ATP8B1 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 ³⁰ (show all 14)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	failure to thrive ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001508
2	splenomegaly ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001744
3	hepatomegaly ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002240
4	malabsorption ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0002024
5	short stature ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0004322
6	cognitive impairment ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0100543
7	jaundice ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0000952
8	abnormality of coagulation ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001928
9	delayed skeletal maturation ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002750
10	reduced bone mineral density ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0004349
11	abnormality of thrombocytes ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001872
12	hypocalcemia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002901
13	neoplasm ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002664
14	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	10.3	ABCB11 ABCB4 ABCC2 ABCG5 ABCG8 ATP11C
2	liver/biliary system	MP:0005370	10.21	ABCB11 ABCB4 ABCC2 ABCG5 ABCG8 ATP8B1
3	growth/size/body region	MP:0005378	10.16	ABCB11 ABCB4 ABCC2 ABCG5 ABCG8 ATP8B1
4	digestive/alimentary	MP:0005381	9.85	ABCB4 ABCG5 ABCG8 CFTR CYP7A1 MYO5B
5	cardiovascular system	MP:0005385	9.65	ABCB4 ABCG5 ABCG8 ATP8B1 CYP7A1 NR1H4
6	immune system	MP:0005387	9.36	ABCB4 ABCC2 ABCG5 ABCG8 ATP11C ATP8B1

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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 11)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Bile Acids and Salts

Phase 3

2

Liver Extracts

Phase 3

3

Antimetabolites

Phase 1

4

Hypolipidemic Agents

Phase 1

5

Cola

Phase 1

6

Anticholesteremic Agents

Phase 1

7

Lipid Regulating Agents

Phase 1

8

Cholestyramine Resin

Phase 1

9

Glycerin

Approved, Investigational

56-81-5

753

10

4-phenylbutyric acid

11

Protective Agents

Interventional clinical trials:

(show all 18)

#	Name	Status	NCT ID	Phase	Drugs
1	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	Completed	NCT03905330	Phase 3	Maralixibat
2	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)	Completed	NCT03566238	Phase 3	A4250 (odevixibat);Placebo
3	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)	Active, not recruiting	NCT03659916	Phase 3	A4250 (odevixibat)
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	An Open-Label, Phase 3 Study to Evaluate the Efficacy and Safety of TAK-625 in the Treatment of Subjects With Progressive Familial Intrahepatic Cholestasis	Not yet recruiting	NCT05543187	Phase 3	TAK-625
6	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
7	Open Label Study of the Efficacy and Long Term Safety of LUM001 (Maralixibat), 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 (Maralixibat)
8	Open-Label, Phase 2 Study to Evaluate the Safety and Tolerability of Maralixibat in the Treatment of Infants With Cholestatic Liver Diseases Including Progressive Familial Intrahepatic Cholestasis and Alagille Syndrome	Recruiting	NCT04729751	Phase 2	Maralixibat
9	Efficacy and Tolerance of RADIOEMBOLIZATION for Patients With Unresectable Intrahepatic Cholangiocarcinoma With Tumor Progression After First-line Therapy	Terminated	NCT01383746	Phase 1, Phase 2
10	A Phase I, Double-Blind Single and Multiple Ascending Dose Study to Assess Safety and Pharmacokinetics of A4250 as Monotherapy, and in Combination With Colonic Release Cholestyramine (A3384) or Commercially Available Cholestyramine (Questran™) in Healthy Subjects	Completed	NCT02963077	Phase 1	A4250;CRC (A3384);Questran;Placebo
11	An Open Label, Single-Dose, Single Period Study Designed to Assess the Mass Balance Recovery, Metabolite Profile and Metabolite Identification of [14C]-A4250 in Healthy Male Subjects	Completed	NCT03082937	Phase 1	3 mg [14C]-A4250 capsule
12	Gastrostomy-Biliary Diversion: Innovative Management for Children With Bile Canalicular Transport Disorders	Unknown status	NCT04071197
13	Odevixibat (A4250) for the Treatment of Progressive Familial Intrahepatic Cholestasis (Expanded Access Program)	Approved for marketing	NCT04483531		Odevixibat
14	Validation of the ItchRO Diaries in Pediatric Cholestatic Liver Disease	Completed	NCT02131623
15	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
16	Transition From Buphenyl to RAVICTI for the Therapy of Byler Disease	No longer available	NCT01949766		Glycerol phenylbutyrate
17	Expanded Access Protocol for an Intermediate Size Population - RAVICTI for Byler Disease	No longer available	NCT02094222		RAVICTI
18	Compassionate Use of Buphenyl® in the Treatment of Byler's Disease	No longer available	NCT01784718		Buphenyl

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 ²⁸

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Anatomical Context for Progressive Familial Intrahepatic Cholestasis

Organs/tissues related to Progressive Familial Intrahepatic Cholestasis:

MalaCards : Liver, Pancreas, Spleen, Skin, Bone, Appendix, Kidney

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Publications for Progressive Familial Intrahepatic Cholestasis

Articles related to Progressive Familial Intrahepatic Cholestasis:

(show top 50) (show all 770)

#	Title	Authors	PMID	Year
1	Whole-Genome Sequencing Reveals Large ATP8B1 Deletion/Duplications as Second Mutations Missed by Exome-Based Sequencing. ⁶² ⁵	Yang Y...Wang JS	34543749	2021
2	ATP8B1, ABCB11, and ABCB4 Genes Defects: Novel Mutations Associated with Cholestasis with Different Phenotypes and Outcomes. ⁶² ⁵	Al-Hussaini A...Asery A	33915153	2021
3	Mutation Analysis and Disease Features at Presentation in a Multi-Center Cohort of Children With Monogenic Cholestasis. ⁶² ⁵	Hertel PM...Childhood Liver Disease Research Network (ChiLDReN)	34016879	2021
4	Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China. ⁶² ⁵	Zhang W...Liu L	33215027	2020
5	ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression. ⁶² ⁵	Li LT...Wang JS	32808743	2020
6	Genotype correlates with the natural history of severe bile salt export pump deficiency. ⁶² ⁵	van Wessel DBE...NAtural course and Prognosis of PFIC and Effect of biliary Diversion (NAPPED) consortium	32087350	2020
7	ABCB4 disease mimicking morbus Wilson: A potential diagnostic pitfall. ⁶² ⁵	Sticova E...Jirsa M	31728073	2020
8	Evaluation of a Novel Missense Mutation in ABCB4 Gene Causing Progressive Familial Intrahepatic Cholestasis Type 3. ⁶² ⁵	Saleem K...Sun W	32626542	2020
9	Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis. ⁶² ⁵	Sharma A...Aggarwal R	29973134	2018
10	Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset. ⁶² ⁵	Schatz SB...Baumann U	29761167	2018
11	A functional classification of ABCB4 variations causing progressive familial intrahepatic cholestasis type 3. ⁶² ⁵	Delaunay JL...Maurice M	26474921	2016
12	Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing. ⁶² ⁵	Togawa T...Saitoh S	26858187	2016
13	ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression. ⁶² ⁵	Degiorgio D...Battezzati PM	26324191	2016
14	Reversal of advanced fibrosis after long-term ursodeoxycholic acid therapy in a patient with residual expression of MDR3. ⁶² ⁵	Frider B...Mathet V	26256905	2015
15	Functional analysis of ABCB4 mutations relates clinical outcomes of progressive familial intrahepatic cholestasis type 3 to the degree of MDR3 floppase activity. ⁶² ⁵	Gordo-Gilart R...Alvarez L	24594635	2015
16	Intractable itch relieved by 4-phenylbutyrate therapy in patients with progressive familial intrahepatic cholestasis type 1. ⁶² ⁵	Hasegawa Y...Kusuhara H	25022842	2014
17	The cholangiographic features of severe forms of ABCB4/MDR3 deficiency-associated cholangiopathy in adults. ⁶² ⁵	Poupon R...Rosmorduc O	20537830	2010
18	The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects. ⁶² ⁵	Davit-Spraul A...Jacquemin E	20422496	2010
19	ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history. ⁶² ⁵	Davit-Spraul A...Jacquemin E	20232290	2010
20	Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing. ⁶² ⁵	Byrne JA...Thompson RJ	19101985	2009
21	Diagnosis of BSEP/ABCB11 mutations in Asian patients with cholestasis using denaturing high performance liquid chromatography. ⁶² ⁵	Chen HL...Chang MH	18692205	2008
22	Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families. ⁶² ⁵	Strautnieks SS...Thompson RJ	18395098	2008
23	Levels of plasma membrane expression in progressive and benign mutations of the bile salt export pump (Bsep/Abcb11) correlate with severity of cholestatic diseases. ⁶² ⁵	Lam P...Boyer JL	17855769	2007
24	Exocrine pancreatic function in children with progressive familial intrahepatic cholestasis type 2. ⁶² ⁵	Walkowiak J...Socha J	16641580	2006
25	Characterization of mutations in ATP8B1 associated with hereditary cholestasis. ⁶² ⁵	Klomp LW...Bull LN	15239083	2004
26	Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity. ⁶² ⁵	Chen F...Shneider BL	14988830	2004
27	Bile salt export pump gene mutations in two Japanese patients with progressive familial intrahepatic cholestasis. ⁶² ⁵	Goto K...Togari H	12717091	2003
28	A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. ⁶² ⁵	Strautnieks SS...Thompson RJ	9806540	1998
29	Leveraging health systems data to characterize a large effect variant conferring risk for liver disease in Puerto Ricans. ⁵	Belbin GM...Kenny EE	34678161	2021
30	Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort. ⁵	Bertoli-Avella AM...Bauer P	32860008	2021
31	The role of genetic mutations in intrahepatic cholestasis of pregnancy. ⁵	Aydin GA...Gorukmez O	32917322	2020
32	Whole-genome sequencing of patients with rare diseases in a national health system. ⁵	Turro E...Ouwehand WH	32581362	2020
33	Point of Care Exome Sequencing Reveals Allelic and Phenotypic Heterogeneity Underlying Mendelian disease in Qatar. ⁵	Fakhro KA...Crystal RG	31625567	2019
34	Clinical characteristics and genetic profiles of young and adult patients with cholestatic liver disease. ⁵	Huynh MT...Barbu V	31538484	2019
35	A homozygous ABCB4 mutation causing an LPAC syndrome evolves into cholangiocarcinoma. ⁵	Khabou B...Fakhfakh F	31181191	2019
36	Comprehensive bile acid profiling in hereditary intrahepatic cholestasis: Genetic and clinical correlations. ⁵	Liu T...Wang JS	29412511	2018
37	Diagnosis of monogenic liver diseases in childhood by next-generation sequencing. ⁵	Stalke A...Pfister ED	28776642	2018
38	Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants. ⁵	Droge C...Keitel V	28733223	2017
39	An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy. ⁵	Dixon PH...Williamson C	28924228	2017
40	Comparison of in silico prediction and experimental assessment of ABCB4 variants identified in patients with biliary diseases. ⁵	Khabou B...Maurice M	28587926	2017
41	Genetic profiling of children with advanced cholestatic liver disease. ⁵	Shagrani M...Alkuraya FS	28039895	2017
42	Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis. ⁵	Qiu YL...Wang JS	28027573	2017
43	Increased frequency of double and triple heterozygous gene variants in children with intrahepatic cholestasis. ⁵	Goldschmidt ML...Bezerra JA	26126923	2016
44	The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency. ⁵	Wang NL...Wang JS	27050426	2016
45	Hypothyroidism Associated with ATP8B1 Deficiency. ⁵	Li L...Wang J	26382629	2015
46	Aspects of liver pathology in adult patients with MDR3/ABCB4 gene mutations. ⁵	Wendum D...Poupon R	22331132	2012
47	Analysis of gene mutations in children with cholestasis of undefined etiology. ⁵	Matte U...Bezerra JA	20683201	2010
48	An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: a multicentre study. ⁵	Tomaiuolo R...Colombo C	19467940	2009
49	A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2. ⁵	Lam CW...Tong SF	16290310	2006
50	Intractable diarrhea after liver transplantation for Byler's disease: successful treatment with bile adsorptive resin. ⁵	Egawa H...Tanaka K	12149765	2002

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Genes for Progressive Familial Intrahepatic Cholestasis

Genes related to Progressive Familial Intrahepatic Cholestasis (4 elite genes):

(show all 44)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ATP8B1	ATPase Phospholipid Transporting 8B1	Protein Coding	453.89	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)	14988830 12149765 25022842 (more) 15239083 29973134 34543749
2	ABCB11	ATP Binding Cassette Subfamily B Member 11	Protein Coding	453.55	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Publications Gene name (show sections)	9806540 12717091 16290310 (more) 16641580 17855769 18395098 18692205 19101985 20683201 26382629 26858187 27050426 28027573 28733223 29412511 32808743 33215027 34016879 20232290 32087350 32581362 32860008
3	ABCB4	ATP Binding Cassette Subfamily B Member 4	Protein Coding	443.55	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)	26126923 31625567 28039895 (more) 33915153 20422496 28587926 31728073 19467940 20537830 22331132 24594635 26256905 26324191 26474921 28776642 28924228 29761167 31181191 31538484 32626542 32917322 34678161
4	USP53	Ubiquitin Specific Peptidase 53	Protein Coding	406.11	Pathogenic ⁵ DISEASES inferred ¹⁴
5	ATP8B1-AS1	ATP8B1 Antisense RNA 1	RNA Gene	25	Likely pathogenic ⁵
6	NR1H4	Nuclear Receptor Subfamily 1 Group H Member 4	Protein Coding	15.87	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
7	SLC51A	Solute Carrier Family 51 Subunit Alpha	Protein Coding	15.73	DISEASES inferred ¹⁴ GeneCards inferred via : Summaries (show sections)
8	SLC10A2	Solute Carrier Family 10 Member 2	Protein Coding	14.96	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
9	FABP6	Fatty Acid Binding Protein 6	Protein Coding	13.3	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
10	ABCC2	ATP Binding Cassette Subfamily C Member 2	Protein Coding	7.4	DISEASES inferred ¹⁴
11	MYO5B	Myosin VB	Protein Coding	7.38	DISEASES inferred ¹⁴
12	TJP2	Tight Junction Protein 2	Protein Coding	7.37	DISEASES inferred ¹⁴
13	SLC10A1	Solute Carrier Family 10 Member 1	Protein Coding	7.33	DISEASES inferred ¹⁴
14	TMEM30A	Transmembrane Protein 30A	Protein Coding	7.13	DISEASES inferred ¹⁴
15	CYP7A1	Cytochrome P450 Family 7 Subfamily A Member 1	Protein Coding	6.92	DISEASES inferred ¹⁴
16	ABCG5	ATP Binding Cassette Subfamily G Member 5	Protein Coding	6.91	DISEASES inferred ¹⁴
17	ATP11C	ATPase Phospholipid Transporting 11C	Protein Coding	6.59	DISEASES inferred ¹⁴
18	SLC51B	Solute Carrier Family 51 Subunit Beta	Protein Coding	6.56	DISEASES inferred ¹⁴
19	ABCG8	ATP Binding Cassette Subfamily G Member 8	Protein Coding	6.55	DISEASES inferred ¹⁴
20	CFTR	CF Transmembrane Conductance Regulator	Protein Coding	6.5	DISEASES inferred ¹⁴
21	NR0B2	Nuclear Receptor Subfamily 0 Group B Member 2	Protein Coding	6.46	DISEASES inferred ¹⁴
22	ABCC4	ATP Binding Cassette Subfamily C Member 4	Protein Coding	6.42	DISEASES inferred ¹⁴
23	ATP8A1	ATPase Phospholipid Transporting 8A1	Protein Coding	6.37	DISEASES inferred ¹⁴
24	VPS33B	VPS33B Late Endosome And Lysosome Associated	Protein Coding	6.35	DISEASES inferred ¹⁴
25	ATP8A2	ATPase Phospholipid Transporting 8A2	Protein Coding	6.34	DISEASES inferred ¹⁴
26	ABCC3	ATP Binding Cassette Subfamily C Member 3	Protein Coding	6.29	DISEASES inferred ¹⁴
27	CYP8B1	Cytochrome P450 Family 8 Subfamily B Member 1	Protein Coding	6.27	DISEASES inferred ¹⁴
28	BAAT	Bile Acid-CoA:Amino Acid N-Acyltransferase	Protein Coding	6.16	DISEASES inferred ¹⁴
29	AKR1D1	Aldo-Keto Reductase Family 1 Member D1	Protein Coding	6.14	DISEASES inferred ¹⁴
30	HSD3B7	Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 7	Protein Coding	6.14	DISEASES inferred ¹⁴
31	VIPAS39	VPS33B Interacting Protein, Apical-Basolateral Polarity Regulator, Spe-39 Homolog	Protein Coding	6.12	DISEASES inferred ¹⁴
32	CYP7B1	Cytochrome P450 Family 7 Subfamily B Member 1	Protein Coding	6.11	DISEASES inferred ¹⁴
33	ATP8B2	ATPase Phospholipid Transporting 8B2	Protein Coding	6.11	DISEASES inferred ¹⁴
34	JAG1	Jagged Canonical Notch Ligand 1	Protein Coding	6.08	DISEASES inferred ¹⁴
35	SLCO1B3	Solute Carrier Organic Anion Transporter Family Member 1B3	Protein Coding	6.02	DISEASES inferred ¹⁴
36	SLCO1B1	Solute Carrier Organic Anion Transporter Family Member 1B1	Protein Coding	6.01	DISEASES inferred ¹⁴
37	TMEM30B	Transmembrane Protein 30B	Protein Coding	6.01	DISEASES inferred ¹⁴
38	NR1I2	Nuclear Receptor Subfamily 1 Group I Member 2	Protein Coding	5.96	DISEASES inferred ¹⁴
39	FGF19	Fibroblast Growth Factor 19	Protein Coding	5.95	DISEASES inferred ¹⁴
40	ATP11A	ATPase Phospholipid Transporting 11A	Protein Coding	5.94	DISEASES inferred ¹⁴
41	GPBAR1	G Protein-Coupled Bile Acid Receptor 1	Protein Coding	5.93	DISEASES inferred ¹⁴
42	SERPINA1	Serpin Family A Member 1	Protein Coding	5.92	DISEASES inferred ¹⁴
43	ATP8B3	ATPase Phospholipid Transporting 8B3	Protein Coding	5.92	DISEASES inferred ¹⁴
44	SLC25A13	Solute Carrier Family 25 Member 13	Protein Coding	5.89	DISEASES inferred ¹⁴

Sources

Variations for Progressive Familial Intrahepatic Cholestasis

ClinVar genetic disease variations for Progressive Familial Intrahepatic Cholestasis:

⁵ (show all 30)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	ATP8B1	NM_001374385.1(ATP8B1):c.1581CTT[2] (p.Phe529del)	MICROSAT	Pathogenic	918158	rs756395915	GRCh37: 18:55351309-55351311 GRCh38: 18:57684077-57684079
2	USP53	NM_001371395.1(USP53):c.1012C>T (p.Arg338Ter)	SNV	Pathogenic	694273	rs751511532	GRCh37: 4:120188514-120188514 GRCh38: 4:119267359-119267359
3	ABCB11	NM_003742.4(ABCB11):c.1460G>A (p.Arg487His)	SNV	Pathogenic	290081	rs188824058	GRCh37: 2:169828535-169828535 GRCh38: 2:168972025-168972025
4	ABCB11	NM_003742.4(ABCB11):c.1763C>T (p.Ala588Val)	SNV	Pathogenic	594531	rs917981474	GRCh37: 2:169826601-169826601 GRCh38: 2:168970091-168970091
5	ABCB4	NM_000443.4(ABCB4):c.526C>T (p.Arg176Trp)	SNV	Pathogenic	372802	rs754287486	GRCh37: 7:87082270-87082270 GRCh38: 7:87452954-87452954
6	ABCB11	NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly)	SNV	Pathogenic	6590	rs11568372	GRCh37: 2:169847329-169847329 GRCh38: 2:168990819-168990819
7	ABCB11	NM_003742.4(ABCB11):c.1493T>C (p.Ile498Thr)	SNV	Pathogenic	951369	rs752043324	GRCh37: 2:169828502-169828502 GRCh38: 2:168971992-168971992
8	ABCB11	NM_003742.4(ABCB11):c.1975C>T (p.Gln659Ter)	SNV	Likely Pathogenic	1722389		GRCh37: 2:169825896-169825896 GRCh38: 2:168969386-168969386
9	ABCB4	NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln)	SNV	Likely Pathogenic	197144	rs372685632	GRCh37: 7:87092220-87092220 GRCh38: 7:87462904-87462904
10	ABCB4	NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)	SNV	Likely Pathogenic	291252	rs375315619	GRCh37: 7:87069546-87069546 GRCh38: 7:87440230-87440230
11	ABCB11	NM_003742.4(ABCB11):c.2075+2T>C	SNV	Likely Pathogenic	812748	rs1574445178	GRCh37: 2:169824935-169824935 GRCh38: 2:168968425-168968425
12	ABCB4	NM_000443.4(ABCB4):c.2784-12T>C	SNV	Likely Pathogenic	802326	rs201498350	GRCh37: 7:87041361-87041361 GRCh38: 7:87412045-87412045
13	ABCB11	NM_003742.4(ABCB11):c.2095T>C (p.Ser699Pro)	SNV	Likely Pathogenic	595385	rs867525294	GRCh37: 2:169820799-169820799 GRCh38: 2:168964289-168964289
14	ATP8B1	NC_000018.9:g.(55373820_55398858)_(55399062_55470229)del	DEL	Likely Pathogenic	1696273		GRCh37: 18:55373820-55470229 GRCh38:
15	ABCB4	NM_000443.4(ABCB4):c.808G>A (p.Gly270Arg)	SNV	Likely Pathogenic	1698460		GRCh37: 7:87079309-87079309 GRCh38: 7:87449993-87449993
16	ATP8B1-AS1, ATP8B1	NM_001374385.1(ATP8B1):c.3261+1G>C	SNV	Likely Pathogenic	1192197		GRCh37: 18:55319715-55319715 GRCh38: 18:57652483-57652483
17	ATP8B1	NM_001374385.1(ATP8B1):c.2007G>A (p.Trp669Ter)	SNV	Likely Pathogenic	1301358		GRCh37: 18:55336640-55336640 GRCh38: 18:57669408-57669408
18	ABCB4	NM_000443.4(ABCB4):c.2932T>C (p.Ser978Pro)	SNV	Likely Pathogenic	599183	rs1051861187	GRCh37: 7:87038701-87038701 GRCh38: 7:87409385-87409385
19	ABCB11	NM_003742.4(ABCB11):c.2834G>A (p.Ser945Asn)	SNV	Uncertain Significance	332024	rs200857579	GRCh37: 2:169791916-169791916 GRCh38: 2:168935406-168935406
20	ATP8B1-AS1, ATP8B1	NM_001374385.1(ATP8B1):c.3450C>T (p.Ile1150=)	SNV	Uncertain Significance	327469	rs886054009	GRCh37: 18:55317680-55317680 GRCh38: 18:57650448-57650448
21	ABCB11	NM_003742.4(ABCB11):c.1699G>A (p.Val567Ile)	SNV	Uncertain Significance	332032	rs886055066	GRCh37: 2:169826665-169826665 GRCh38: 2:168970155-168970155
22	ATP8B1	NM_001374385.1(ATP8B1):c.2052C>T (p.Asp684=)	SNV	Uncertain Significance	327482	rs370484798	GRCh37: 18:55336595-55336595 GRCh38: 18:57669363-57669363
23	ABCB11	NM_003742.4(ABCB11):c.*193G>C	SNV	Uncertain Significance	332019	rs886055061	GRCh37: 2:169779939-169779939 GRCh38: 2:168923429-168923429
24	ATP8B1-AS1, ATP8B1	NM_001374385.1(ATP8B1):c.2637G>A (p.Leu879=)	SNV	Uncertain Significance	327475	rs199716374	GRCh37: 18:55328476-55328476 GRCh38: 18:57661244-57661244
25	ATP8B1-AS1, ATP8B1	NM_001374385.1(ATP8B1):c.2098-17_2098-15dup	DUP	Likely Benign	327477	rs34422185	GRCh37: 18:55335786-55335787 GRCh38: 18:57668554-57668555
26	ATP8B1-AS1, ATP8B1	NM_001374385.1(ATP8B1):c.2098-19_2098-15dup	DUP	Likely Benign	327479	rs34422185	GRCh37: 18:55335786-55335787 GRCh38: 18:57668554-57668555
27	ATP8B1-AS1, ATP8B1	NM_001374385.1(ATP8B1):c.2098-21_2098-15dup	DUP	Likely Benign	327481	rs34422185	GRCh37: 18:55335786-55335787 GRCh38: 18:57668554-57668555
28	ATP8B1-AS1, ATP8B1	NM_001374385.1(ATP8B1):c.2098-18_2098-15dup	DUP	Benign	327478	rs34422185	GRCh37: 18:55335786-55335787 GRCh38: 18:57668554-57668555
29	ATP8B1-AS1, ATP8B1	NM_001374385.1(ATP8B1):c.2098-20_2098-15dup	DUP	Benign	327480	rs34422185	GRCh37: 18:55335786-55335787 GRCh38: 18:57668554-57668555
30	ATP8B1-AS1, ATP8B1	NM_001374385.1(ATP8B1):c.*2015del	DEL	Benign	327438	rs35833803	GRCh37: 18:55313705-55313705 GRCh38: 18:57646473-57646473

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 GeneCards Suite gene sharing:

(show all 16)

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism ⁶⁶ Show member pathways Metabolism of lipids ⁶⁶	13.68	SLC51B SLC51A SLC10A2 SLC10A1 NR1H4 FABP6
2	Transport of inorganic cations/anions and amino acids/oligopeptides ⁶⁶ Show member pathways Amino acid transport across the plasma membrane ⁶⁶ Bicarbonate transporters ⁶⁶ Cation-coupled Chloride cotransporters ⁶⁶ Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN) ⁶⁶ Defective SLC12A1 causes Bartter syndrome 1 (BS1) ⁶⁶ Defective SLC12A3 causes Gitelman syndrome (GS) ⁶⁶ Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN) ⁶⁶ Defective SLC16A1 causes symptomatic deficiency in lactate transport (SDLT) ⁶⁶ Defective SLC17A5 causes Salla disease (SD) and ISSD ⁶⁶ Defective SLC17A8 causes autosomal dominant deafness 25 (DFNA25) ⁶⁶ Defective SLC20A2 causes idiopathic basal ganglia calcification 1 (IBGC1) ⁶⁶ Defective SLC22A12 causes renal hypouricemia 1 (RHUC1) ⁶⁶ Defective SLC22A18 causes lung cancer (LNCR) and embryonal rhabdomyosarcoma 1 (RMSE1) ⁶⁶ Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP) ⁶⁶ Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI) ⁶⁶ Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6) ⁶⁶ Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1) ⁶⁶ Defective SLC26A4 causes Pendred syndrome (PDS) ⁶⁶ Defective SLC34A1 causes hypophosphatemic nephrolithiasis/osteoporosis 1 (NPHLOP1) ⁶⁶ Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) ⁶⁶ Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG) ⁶⁶ Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) ⁶⁶ Defective SLC6A5 causes hyperekplexia 3 (HKPX3) ⁶⁶ Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH) ⁶⁶ Defective SLC9A9 causes autism 16 (AUTS16) ⁶⁶ Inositol transporters ⁶⁶ Multifunctional anion exchangers ⁶⁶ Na+/Cl- dependent neurotransmitter transporters ⁶⁶ Organic anion transport ⁶⁶ Organic anion transporters ⁶⁶ Organic cation transport ⁶⁶ Organic cation/anion/zwitterion transport ⁶⁶ Proton/oligopeptide cotransporters ⁶⁶ Proton-coupled monocarboxylate transport ⁶⁶ Proton-coupled neutral amino acid transporters ⁶⁶ Rhesus glycoproteins mediate ammonium transport. ⁶⁶ SLC-mediated transmembrane transport ⁶⁶ Sodium/Calcium exchangers ⁶⁶ Sodium/Proton exchangers ⁶⁶ Sodium-coupled phosphate cotransporters ⁶⁶ Sodium-coupled sulphate, di- and tri-carboxylate transporters ⁶⁶ Transport of bile salts and organic acids, metal ions and amine compounds ⁶⁶ Transport of small molecules ⁶⁶ Type II Na+/Pi cotransporters ⁶⁶ Variant SLC6A14 may confer susceptibility towards obesity ⁶⁶	13.23	ABCB4 ABCC2 ABCG5 ABCG8 ATP11C ATP8B1
3	Nuclear receptors meta-pathway ⁷⁴ Show member pathways NRF2 pathway ⁷⁴	12.69	SLC10A1 NR1H4 CYP7A1 ABCG8 ABCG5 ABCC2
4	Metabolism of steroids ⁶⁶ Show member pathways Activation of gene expression by SREBF (SREBP) ⁶⁶ allopregnanolone biosynthesis ⁶¹ androgen biosynthesis ⁶¹ Cholesterol synthesis disorders ⁷⁴ Defective CYP17A1 causes AH5 ⁶⁶ Regulation of cholesterol biosynthesis by SREBP (SREBF) ⁶⁶ Sterol regulatory element-binding proteins (SREBP) signaling ⁷⁴ Vitamin D (calciferol) metabolism ⁶⁶	12.57	ABCB11 CYP7A1 FABP6 NR1H4 SLC10A1 SLC10A2
5	Disorders of transmembrane transporters ⁶⁶ Show member pathways SLC transporter disorders ⁶⁶	12.37	CFTR ABCG8 ABCG5 ABCC2 ABCB4 ABCB11
6	Synthesis of bile acids and bile salts ⁶⁶ Show member pathways Bile acid and bile salt metabolism ⁶⁶ Defective ABCB4 causes PFIC3, ICP3 and GBD1 ⁶⁶ Defective CYP7B1 causes SPG5A and CBAS3 ⁶⁶ Disorders of bile acid synthesis and biliary transport ⁷⁴ Recycling of bile acids and salts ⁶⁶ Synthesis of bile acids and bile salts via 24-hydroxycholesterol ⁶⁶ Synthesis of bile acids and bile salts via 27-hydroxycholesterol ⁶⁶ Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol ⁶⁶	12.13	ABCB11 ABCB4 ABCC2 ATP8B1 CYP7A1 FABP6
7	Statin Pathway - Generalized, Pharmacokinetics ⁶⁰ Show member pathways Anti-diabetic Drug Nateglinide Pathway, Pharmacokinetics ⁶⁰ Anti-diabetic Drug Repaglinide Pathway, Pharmacokinetics ⁶⁰ Clobazam Pathway, Pharmacokinetics ⁶⁰ Defective ABCB11 causes PFIC2 and BRIC2 ⁶⁶ Defective SLCO1B1 causes hyperbilirubinemia, Rotor type (HBLRR) ⁶⁶ Diclofenac metabolic pathway ⁷⁴ Diclofenac Pathway, Pharmacokinetics ⁶⁰ Fluvastatin Pathway, Pharmacokinetics ⁶⁰ Ibuprofen Pathway, Pharmacokinetics ⁶⁰ Irinotecan pathway ⁷⁴ Irinotecan Pathway, Pharmacokinetics ⁶⁰ Paclitaxel Pathway, Pharmacokinetics ⁶⁰ Pravastatin Pathway, Pharmacokinetics ⁶⁰ Rosiglitazone Pathway, Pharmacokinetics ⁶⁰ Rosuvastatin Pathway, Pharmacokinetics ⁶⁰ Simvastatin Pathway, Pharmacokinetics ⁶⁰ Ticagrelor Pathway, Pharmacokinetics ⁶⁰	11.92	SLC10A1 ABCC2 ABCB11
8	Hepatic ABC Transporters ⁶⁴ Show member pathways MODY (Maturity-Onset Diabetes of Young) ⁶⁴	11.87	SLC10A1 ABCC2 ABCB4 ABCB11
9	NR1H2 and NR1H3-mediated signaling ⁶⁶ Show member pathways NR1H2 and NR1H3 regulate gene expression linked to gluconeogenesis ⁶⁶ NR1H2 and NR1H3 regulate gene expression linked to lipogenesis ⁶⁶ NR1H2 and NR1H3 regulate gene expression linked to triglyceride lipolysis in adipose ⁶⁶ NR1H2 and NR1H3 regulate gene expression to control bile acid homeostasis ⁶⁶ NR1H2 and NR1H3 regulate gene expression to limit cholesterol uptake ⁶⁶ NR1H3 and NR1H2 regulate gene expression linked to cholesterol transport and efflux ⁶⁶	11.79	FABP6 ABCG8 ABCG5
10	Statin inhibition of cholesterol production ⁷⁴ Show member pathways Familial hyperlipidemia type 3 ⁷⁴ Lipid particles composition ⁷⁴ Statin Pathway, Pharmacodynamics ⁶⁰	11.59	CYP7A1 ABCG8 ABCG5
11	Nuclear receptors in lipid metabolism and toxicity ⁷⁴	11.34	NR1H4 CYP7A1 ABCG5 ABCC2 ABCB4 ABCB11
12	Farnesoid X receptor pathway ⁷⁴	11.04	SLC10A1 NR1H4 CYP7A1 ABCB4 ABCB11
13	Cholestasis ⁷⁴	10.86	ABCB11 ABCB4 ABCC2 ABCG5 ABCG8 ATP8B1
14	Bile acids synthesis and enterohepatic circulation ⁷⁴	10.81	SLC10A2 SLC10A1 CYP7A1 ABCG8 ABCG5 ABCB11
15	Drug induction of bile acid pathway ⁷⁴	10.4	ABCB11 ABCC2 CYP7A1 NR1H4 SLC10A1 SLC51A
16	Defective ABCG8 causes GBD4 and sitosterolemia ⁶⁶ Show member pathways Defective ABCG5 causes sitosterolemia ⁶⁶	10.11	ABCG8 ABCG5

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	10.59	ABCB11 ABCB4 ABCC2 ABCG5 ABCG8 ATP11C
2	membrane	GO:0016021	10.59	ABCB11 ABCB4 ABCC2 ABCG5 ABCG8 ATP11C
3	plasma membrane	GO:0005887	10.29	ABCB4 ABCC2 ABCG5 ABCG8 ATP11C ATP8B1
4	plasma membrane	GO:0005886	10.29	ABCB4 ABCC2 ABCG5 ABCG8 ATP11C ATP8B1
5	recycling endosome	GO:0055037	9.97	MYO5B CFTR ATP11C ABCB11
6	phospholipid-translocating ATPase complex	GO:1990531	9.73	ATP11C ATP8B1 TMEM30A
7	ATP-binding cassette (ABC) transporter complex	GO:0043190	9.71	ABCG8 ABCG5
8	apical plasma membrane	GO:0016324	9.58	TMEM30A SLC10A2 CFTR ATP8B1 ABCG8 ABCG5
9	intercellular canaliculus	GO:0046581	9.43	ABCC2 ABCB4 ABCB11

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

(show all 25)

#	Name	GO ID	Score	Top Affiliating Genes
1	transmembrane transport	GO:0055085	10.26	ABCB11 ABCB4 ABCC2 ABCG5 ABCG8 CFTR
2	cholesterol homeostasis	GO:0042632	10.18	NR1H4 CYP7A1 ABCG8 ABCG5 ABCB11
3	phospholipid translocation	GO:0045332	10.01	TMEM30A ATP8B1 ATP11C ABCB4
4	bile acid metabolic process	GO:0008206	9.99	NR1H4 ATP8B1 ABCB11
5	triglyceride homeostasis	GO:0070328	9.97	NR1H4 ABCG8 ABCG5
6	aminophospholipid translocation	GO:0140331	9.93	TMEM30A ATP8B1 ATP11C
7	bile acid signaling pathway	GO:0038183	9.93	SLC10A1 NR1H4 CYP7A1 ABCG8 ABCG5 ABCB11
8	intestinal cholesterol absorption	GO:0030299	9.92	ABCG8 ABCG5
9	positive regulation of protein exit from endoplasmic reticulum	GO:0070863	9.92	TMEM30A SLC51B
10	xenobiotic transmembrane transport	GO:0006855	9.92	TMEM30A ATP8B1 ABCC2 ABCB11
11	response to nutrient levels	GO:0031667	9.91	SLC10A1 ABCG8 ABCG5
12	cellular response to bile acid	GO:1903413	9.91	NR1H4 ABCB4
13	bile acid secretion	GO:0032782	9.91	ABCB4 SLC51A SLC51B
14	regulation of bile acid biosynthetic process	GO:0070857	9.9	NR1H4 CYP7A1
15	phospholipid transport	GO:0015914	9.89	ABCG8 ATP11C ATP8B1 TMEM30A
16	positive regulation of phospholipid translocation	GO:0061092	9.88	TMEM30A ABCB4
17	xenobiotic export from cell	GO:0046618	9.86	ABCB11 ABCC2
18	response to 17alpha-ethynylestradiol	GO:1904486	9.85	ABCB11 SLC10A1
19	negative regulation of intestinal cholesterol absorption	GO:0045796	9.84	ABCG8 ABCG5
20	negative regulation of intestinal phytosterol absorption	GO:0010949	9.83	ABCG8 ABCG5
21	aminophospholipid transport	GO:0015917	9.77	TMEM30A ATP8B1
22	regulation of bile acid secretion	GO:0120188	9.74	SLC10A1 ABCB11
23	lipid transport	GO:0006869	9.7	ABCB11 ABCB4 ABCC2 ABCG5 ABCG8 ATP11C
24	organic substance transport	GO:0071702	9.67	SLC51B SLC51A ABCG8 ABCG5
25	bile acid and bile salt transport	GO:0015721	9.53	ABCB11 ABCC2 ATP8B1 CYP7A1 SLC10A1 SLC10A2

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

(show all 16)

#	Name	GO ID	Score	Top Affiliating Genes
1	ATP binding	GO:0005524	10.46	ABCB11 ABCB4 ABCC2 ABCG5 ABCG8 ATP11C
2	ATP hydrolysis activity	GO:0016887	10.24	CFTR ATP8B1 ATP11C ABCG8 ABCG5
3	nucleotide binding	GO:0000166	9.91	MYO5B CFTR ATP8B1 ATP11C ABCG8 ABCG5
4	ABC-type xenobiotic transporter activity	GO:0008559	9.86	ABCC2 ABCB11
5	ATPase-coupled inorganic anion transmembrane transporter activity	GO:0043225	9.85	CFTR ABCC2
6	phosphatidylserine floppase activity	GO:0090556	9.83	ATP8B1 ATP11C
7	phosphatidylcholine floppase activity	GO:0090554	9.8	ATP8B1 ABCB4
8	phosphatidylethanolamine flippase activity	GO:0090555	9.78	ATP11C ABCB4
9	bile acid:sodium symporter activity	GO:0008508	9.73	SLC10A1 SLC10A2
10	ATPase-coupled transmembrane transporter activity	GO:0042626	9.73	CFTR ABCG8 ABCG5 ABCC2 ABCB4 ABCB11
11	ATPase-coupled intramembrane lipid transporter activity	GO:0140326	9.72	ATP8B1 ATP11C ABCB4
12	phosphatidylserine flippase activity	GO:0140346	9.71	ATP8B1 ATP11C
13	bile acid transmembrane transporter activity	GO:0015125	9.7	ABCB11 SLC10A1 SLC51A SLC51B
14	aminophospholipid flippase activity	GO:0015247	9.54	TMEM30A ATP8B1
15	transporter activity	GO:0005215	9.46	SLC51B SLC51A
16	ABC-type transporter activity	GO:0140359	9.36	CFTR ABCG8 ABCG5 ABCC2 ABCB4 ABCB11

Sources

Sources for Progressive Familial Intrahepatic Cholestasis

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

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PFIC MCID: PRG047 MIFTS: 58	Progressive Familial Intrahepatic Cholestasis (PFIC) Categories: Cancer diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

Progressive Familial Intrahepatic Cholestasis (PFIC)

Aliases & Classifications for Progressive Familial Intrahepatic Cholestasis

MalaCards integrated aliases for Progressive Familial Intrahepatic Cholestasis:

Characteristics:

Inheritance:

Age Of Onset:

Classifications:

External Ids:

Summaries for Progressive Familial Intrahepatic Cholestasis

Related Diseases for Progressive Familial Intrahepatic Cholestasis

Diseases in the 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

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 (4 elite genes):

Variations for Progressive Familial Intrahepatic Cholestasis

ClinVar genetic disease 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 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