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
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Aliases & Classifications for Progressive Familial Intrahepatic Cholestasis

MalaCards integrated aliases for Progressive Familial Intrahepatic Cholestasis:

Name: Progressive Familial Intrahepatic Cholestasis 11 42 58 28 5 14 75 33
Cholestasis, Progressive Familial Intrahepatic 75 5
Abcb4-Related Intrahepatic Cholestasis 42 5
Pfic - [progressive Familial Intrahepatic Cholestasis] 33
Cholestasis, Intrahepatic, Familial, Progressive 38
Low Γ-Gt Familial Intrahepatic Cholestasis 42
Abcb11-Related Intrahepatic Cholestasis 42
Atp8b1-Related Intrahepatic Cholestasis 42
Pfic; Byler Disease 11
Mdr3 Deficiency 42
Bsep Deficiency 42
Fic1 Deficiency 42
Byler Syndrome 42
Byler Disease 42
Pfic 58

Characteristics:


Inheritance:

Autosomal recessive 58

Age Of Onset:

Adolescent,Childhood,Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 11 DOID:0070221
NCIt 49 C84453
SNOMED-CT 68 74162007
ICD10 via Orphanet 32 K76.8
UMLS via Orphanet 72 C0268312
Orphanet 58 ORPHA172
ICD11 33 1457142642
UMLS 71 C0268312

Summaries for Progressive Familial Intrahepatic Cholestasis

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...

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:



Diseases related to Progressive Familial Intrahepatic Cholestasis

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

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

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

Anatomical Context for Progressive Familial Intrahepatic Cholestasis

Organs/tissues related to Progressive Familial Intrahepatic Cholestasis:

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

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
34543749 2021
2
ATP8B1, ABCB11, and ABCB4 Genes Defects: Novel Mutations Associated with Cholestasis with Different Phenotypes and Outcomes. 62 5
33915153 2021
3
Mutation Analysis and Disease Features at Presentation in a Multi-Center Cohort of Children With Monogenic Cholestasis. 62 5
34016879 2021
4
Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China. 62 5
33215027 2020
5
ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression. 62 5
32808743 2020
6
Genotype correlates with the natural history of severe bile salt export pump deficiency. 62 5
32087350 2020
7
ABCB4 disease mimicking morbus Wilson: A potential diagnostic pitfall. 62 5
31728073 2020
8
Evaluation of a Novel Missense Mutation in ABCB4 Gene Causing Progressive Familial Intrahepatic Cholestasis Type 3. 62 5
32626542 2020
9
Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis. 62 5
29973134 2018
10
Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset. 62 5
29761167 2018
11
A functional classification of ABCB4 variations causing progressive familial intrahepatic cholestasis type 3. 62 5
26474921 2016
12
Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing. 62 5
26858187 2016
13
ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression. 62 5
26324191 2016
14
Reversal of advanced fibrosis after long-term ursodeoxycholic acid therapy in a patient with residual expression of MDR3. 62 5
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
24594635 2015
16
Intractable itch relieved by 4-phenylbutyrate therapy in patients with progressive familial intrahepatic cholestasis type 1. 62 5
25022842 2014
17
The cholangiographic features of severe forms of ABCB4/MDR3 deficiency-associated cholangiopathy in adults. 62 5
20537830 2010
18
The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects. 62 5
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
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
19101985 2009
21
Diagnosis of BSEP/ABCB11 mutations in Asian patients with cholestasis using denaturing high performance liquid chromatography. 62 5
18692205 2008
22
Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families. 62 5
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
17855769 2007
24
Exocrine pancreatic function in children with progressive familial intrahepatic cholestasis type 2. 62 5
16641580 2006
25
Characterization of mutations in ATP8B1 associated with hereditary cholestasis. 62 5
15239083 2004
26
Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity. 62 5
14988830 2004
27
Bile salt export pump gene mutations in two Japanese patients with progressive familial intrahepatic cholestasis. 62 5
12717091 2003
28
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. 62 5
9806540 1998
29
Leveraging health systems data to characterize a large effect variant conferring risk for liver disease in Puerto Ricans. 5
34678161 2021
30
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort. 5
32860008 2021
31
The role of genetic mutations in intrahepatic cholestasis of pregnancy. 5
32917322 2020
32
Whole-genome sequencing of patients with rare diseases in a national health system. 5
32581362 2020
33
Point of Care Exome Sequencing Reveals Allelic and Phenotypic Heterogeneity Underlying Mendelian disease in Qatar. 5
31625567 2019
34
Clinical characteristics and genetic profiles of young and adult patients with cholestatic liver disease. 5
31538484 2019
35
A homozygous ABCB4 mutation causing an LPAC syndrome evolves into cholangiocarcinoma. 5
31181191 2019
36
Comprehensive bile acid profiling in hereditary intrahepatic cholestasis: Genetic and clinical correlations. 5
29412511 2018
37
Diagnosis of monogenic liver diseases in childhood by next-generation sequencing. 5
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
28733223 2017
39
An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy. 5
28924228 2017
40
Comparison of in silico prediction and experimental assessment of ABCB4 variants identified in patients with biliary diseases. 5
28587926 2017
41
Genetic profiling of children with advanced cholestatic liver disease. 5
28039895 2017
42
Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ-glutamyltransferase cholestasis. 5
28027573 2017
43
Increased frequency of double and triple heterozygous gene variants in children with intrahepatic cholestasis. 5
26126923 2016
44
The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency. 5
27050426 2016
45
Hypothyroidism Associated with ATP8B1 Deficiency. 5
26382629 2015
46
Aspects of liver pathology in adult patients with MDR3/ABCB4 gene mutations. 5
22331132 2012
47
Analysis of gene mutations in children with cholestasis of undefined etiology. 5
20683201 2010
48
An MBL2 haplotype and ABCB4 variants modulate the risk of liver disease in cystic fibrosis patients: a multicentre study. 5
19467940 2009
49
A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2. 5
16290310 2006
50
Intractable diarrhea after liver transplantation for Byler's disease: successful treatment with bile adsorptive resin. 5
12149765 2002

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

Expression for Progressive Familial Intrahepatic Cholestasis

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

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
Show member pathways
13.68 SLC51B SLC51A SLC10A2 SLC10A1 NR1H4 FABP6
2
Show member pathways
13.23 ABCB4 ABCC2 ABCG5 ABCG8 ATP11C ATP8B1
3
Show member pathways
12.69 SLC10A1 NR1H4 CYP7A1 ABCG8 ABCG5 ABCC2
4
Show member pathways
12.57 ABCB11 CYP7A1 FABP6 NR1H4 SLC10A1 SLC10A2
5
Show member pathways
12.37 CFTR ABCG8 ABCG5 ABCC2 ABCB4 ABCB11
6
Show member pathways
12.13 ABCB11 ABCB4 ABCC2 ATP8B1 CYP7A1 FABP6
7
Show member pathways
11.92 SLC10A1 ABCC2 ABCB11
8
Show member pathways
11.87 SLC10A1 ABCC2 ABCB4 ABCB11
9
Show member pathways
11.79 FABP6 ABCG8 ABCG5
10
Show member pathways
11.59 CYP7A1 ABCG8 ABCG5
11 11.34 NR1H4 CYP7A1 ABCG5 ABCC2 ABCB4 ABCB11
12 11.04 SLC10A1 NR1H4 CYP7A1 ABCB4 ABCB11
13 10.86 ABCB11 ABCB4 ABCC2 ABCG5 ABCG8 ATP8B1
14 10.81 SLC10A2 SLC10A1 CYP7A1 ABCG8 ABCG5 ABCB11
15 10.4 ABCB11 ABCC2 CYP7A1 NR1H4 SLC10A1 SLC51A
16
Show member pathways
10.11 ABCG8 ABCG5

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 for Progressive Familial Intrahepatic Cholestasis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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