PFIC
MCID: PRG047
MIFTS: 64

Progressive Familial Intrahepatic Cholestasis (PFIC)

Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Progressive Familial Intrahepatic Cholestasis

MalaCards integrated aliases for Progressive Familial Intrahepatic Cholestasis:

Name: Progressive Familial Intrahepatic Cholestasis 12 43 58 36 29 6 15
Cholestasis, Progressive Familial Intrahepatic 73 6
Cholestasis, Intrahepatic, Familial, Progressive 39
Low Γ-Gt Familial Intrahepatic Cholestasis 43
Abcb11-Related Intrahepatic Cholestasis 43
Atp8b1-Related Intrahepatic Cholestasis 43
Abcb4-Related Intrahepatic Cholestasis 43
Pfic; Byler Disease 12
Mdr3 Deficiency 43
Bsep Deficiency 43
Fic1 Deficiency 43
Byler Syndrome 43
Byler Disease 43
Pfic 58

Characteristics:

Orphanet epidemiological data:

58
progressive familial intrahepatic cholestasis
Inheritance: Autosomal recessive; Age of onset: Adolescent,Childhood,Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0070221
KEGG 36 H00624
NCIt 50 C84453
SNOMED-CT 67 74162007
ICD10 via Orphanet 33 K76.8
UMLS via Orphanet 71 C0268312
Orphanet 58 ORPHA172
UMLS 70 C0268312

Summaries for Progressive Familial Intrahepatic Cholestasis

MedlinePlus Genetics : 43 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, 4 and cholestasis, progressive familial intrahepatic, 5, 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 Bile Acids and Salts and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include liver, spleen and pancreas, and related phenotypes are failure to thrive and splenomegaly

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

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, 4 33.2 TJP2 NR1H4 ATP8B1 ABCC2 ABCB4 ABCB11
2 cholestasis, progressive familial intrahepatic, 5 33.1 TJP2 NR1H4 ATP8B1 ABCB4 ABCB11
3 cholestasis, progressive familial intrahepatic, 3 32.8 TJP2 SLCO1B3 SLC10A2 SLC10A1 NR1H4 ATP8B1
4 cholestasis, progressive familial intrahepatic, 2 32.5 TJP2 SLCO1B3 SLCO1B1 SLC10A2 SLC10A1 NR1H4
5 cholestasis, progressive familial intrahepatic, 1 32.3 TMEM30A TJP2 SLCO1B3 SLC10A2 SLC10A1 NR1H4
6 bile acid synthesis defect, congenital, 2 32.3 SLC10A1 NR1H4 ABCB11
7 atp8b1 deficiency 31.8 NR1H4 ATP8B1 ABCB11
8 cholestasis 31.4 USP53 TJP2 SLCO1B1 SLC10A2 SLC10A1 NR1H4
9 cholestasis, benign recurrent intrahepatic, 1 31.3 USP53 TMEM30A TJP2 SLCO1B3 SLCO1B1 SLC10A2
10 liver disease 31.2 TJP2 SLC10A1 NR1H4 GGT1 ATP8B1 ABCC2
11 alagille syndrome 1 31.1 ATP8B1 ABCB4 ABCB11
12 cholangitis 31.0 NR1H4 GGT1 ABCB4 ABCB11
13 cholestasis, intrahepatic, of pregnancy, 1 31.0 SLC10A2 NR1H4 LOC100505549 GGT3P GGT1 ATP8B1
14 cholelithiasis 31.0 NR1H4 ABCG5 ABCB4
15 cholestasis, intrahepatic, of pregnancy 3 30.9 ABCB4 ABCB11
16 familial intrahepatic cholestasis 30.8 TMEM30A TJP2 SLCO1B3 SLCO1B1 SLC10A2 NR1H4
17 intrahepatic cholestasis of pregnancy 30.8 SLCO1B3 SLCO1B1 NR1H4 LOC100505549 ATP8B1 ABCC2
18 biliary atresia 30.7 SLC10A2 SLC10A1 NR1H4 GGT1 ATP8B1 ABCB4
19 primary biliary cholangitis 30.7 SLCO1B1 NR1H4 GGT1 ABCC2 ABCB4 ABCB11
20 sclerosing cholangitis 30.5 NR1H4 GGT1 ABCB4 ABCB11
21 cholestasis, benign recurrent intrahepatic, 2 30.2 TJP2 SLC10A2 SLC10A1 NR1H4 ATP8B1 ABCG5
22 hypercholesterolemia, familial, 1 30.0 SLC10A2 NR1H4 ABCG5
23 bilirubin metabolic disorder 29.7 SLCO1B3 SLCO1B1 SLC10A2 SLC10A1 NR1H4 GGT1
24 bile acid synthesis defect, congenital, 1 11.6
25 myo5b-related progressive familial intrahepatic cholestasis 11.4
26 gallbladder disease 1 11.3
27 arthrogryposis, renal dysfunction, and cholestasis 1 11.3
28 liver cirrhosis 10.7
29 autosomal recessive disease 10.6
30 diarrhea 10.5
31 non-alcoholic fatty liver disease 10.5
32 portal hypertension 10.5
33 splenomegaly 10.5
34 cholecystitis 10.4
35 parenteral nutrition-associated cholestasis 10.4 GGT1 ABCB4
36 autosomal dominant non-syndromic intellectual disability 3 10.4 ABCB4 ABCB11
37 bile duct cysts 10.4 ATP8B1 ABCB4 ABCB11
38 functional diarrhea 10.3 SLC10A2 NR1H4
39 colchicine resistance 10.3 ABCB11 ABCB1
40 common bile duct disease 10.3 ABCB4 ABCB11
41 varicose veins 10.3
42 rickets 10.3
43 methotrexate toxicity 10.3 SLCO1B1 ABCB1
44 hyperbilirubinemia, rotor type 10.3 SLCO1B3 SLCO1B1 ABCC2
45 pericholangitis 10.3 SLC10A2 SLC10A1 ABCB4 ABCB11
46 wilson disease 10.2
47 cholangiocarcinoma 10.2
48 constipation 10.2
49 lipid metabolism disorder 10.2
50 intrahepatic cholangiocarcinoma 10.2

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 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
3 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
4 malabsorption 58 31 hallmark (90%) Very frequent (99-80%) HP:0002024
5 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
6 cognitive impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100543
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.97 ABCB1 ABCB11 ABCB4 ABCC2 ABCG5 ATP8B1
2 homeostasis/metabolism MP:0005376 9.77 ABCB1 ABCB11 ABCB4 ABCC2 ABCG5 ATP8B1
3 liver/biliary system MP:0005370 9.36 ABCB1 ABCB11 ABCB4 ABCC2 ABCG5 ATP8B1

Drugs & Therapeutics for Progressive Familial Intrahepatic Cholestasis

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Bile Acids and Salts Phase 2
2 Liver Extracts Phase 2
3
Glycerol Approved, Investigational 56-81-5 753
4 Protective Agents
5 4-phenylbutyric acid

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 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
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 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)
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 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 Not yet recruiting NCT04729751 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 Sulfation of Bile Acids as a Biomarker for Hepatobiliary Diseases Recruiting NCT01200082
10 Gastrostomy-Biliary Diversion: Innovative Management for Children With Bile Canalicular Transport Disorders Recruiting NCT04071197
11 Odevixibat (A4250) for the Treatment of Progressive Familial Intrahepatic Cholestasis (Expanded Access Program) Available NCT04483531 Odevixibat
12 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
13 Transition From Buphenyl to RAVICTI for the Therapy of Byler Disease No longer available NCT01949766 Glycerol phenylbutyrate
14 Expanded Access Protocol for an Intermediate Size Population - RAVICTI for Byler Disease No longer available NCT02094222 RAVICTI
15 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 29

Anatomical Context for Progressive Familial Intrahepatic Cholestasis

MalaCards organs/tissues related to Progressive Familial Intrahepatic Cholestasis:

40
Liver, Spleen, Pancreas, Bone, Kidney, Appendix

Publications for Progressive Familial Intrahepatic Cholestasis

Articles related to Progressive Familial Intrahepatic Cholestasis:

(show top 50) (show all 555)
# Title Authors PMID Year
1
Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis. 61 6
29973134 2018
2
Intractable itch relieved by 4-phenylbutyrate therapy in patients with progressive familial intrahepatic cholestasis type 1. 6 61
25022842 2014
3
Levels of plasma membrane expression in progressive and benign mutations of the bile salt export pump (Bsep/Abcb11) correlate with severity of cholestatic diseases. 6 61
17855769 2007
4
Characterization of mutations in ATP8B1 associated with hereditary cholestasis. 6 61
15239083 2004
5
Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity. 6 61
14988830 2004
6
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. 6 61
9806540 1998
7
Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families. 6
18395098 2008
8
Intractable diarrhea after liver transplantation for Byler's disease: successful treatment with bile adsorptive resin. 6
12149765 2002
9
Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency. 61
33666275 2021
10
Effect of CFTR correctors on the traffic and the function of intracellularly retained ABCB4 variants. 61
33650203 2021
11
Dual β-Catenin and γ-Catenin Loss in Hepatocytes Impacts Their Polarity through Altered Transforming Growth Factor-β and Hepatocyte Nuclear Factor 4α Signaling. 61
33662348 2021
12
Long-term Outcomes of Living-donor Liver Transplantation for Progressive Familial Intrahepatic Cholestasis Type 1. 61
33264179 2021
13
Progressive familial intrahepatic cholestasis type 3: report of four clinical cases, novel ABCB4 variants, and long-term follow-up. 61
33757843 2021
14
Long-term outcome following cholecystocolostomy in 41 patients with progressive familial intrahepatic cholestasis. 61
33651176 2021
15
Liver Steatosis and Diarrhea After Liver Transplantation for Progressive Familial Intrahepatic Cholestasis Type 1: Can Biliary Diversion Solve These Problems? 61
33230072 2021
16
Severe vitamin deficiencies in pregnancy complicated by progressive familial intrahepatic cholestasis. 61
33692058 2021
17
Reduced spontaneous itch in mouse models of cholestasis. 61
33731871 2021
18
The Largest Single Center Report on Pediatric Liver Transplantation: Experiences and Lessons Learned. 61
32541224 2021
19
Progressive Familial Intrahepatic Cholestasis Associated With USP53 Gene Mutation in a Brazilian Child. 61
33661244 2021
20
ProGrEssive Familial INtrahEpaTIC Cholestasis: Is it time to Transition to GENETIC Cholestasis? 61
33661247 2021
21
The zonula occludens protein family regulates the hepatic barrier system in the murine liver. 61
33184034 2021
22
Burden of illness of progressive familial intrahepatic cholestasis in the US, UK, France, and Germany: study rationale and protocol of the PICTURE study. 61
33406947 2021
23
Clinical profiles and diagnostic challenges in 1158 children with rare hepatobiliary disorders. 61
32289814 2021
24
Postępująca rodzinna cholestaza wewnątrzwątrobowa typu 3. 61
33745243 2021
25
Cholestasis-Associated Pruritus and Its Pruritogens. 61
33791327 2021
26
The Bile Salt Export Pump: Molecular Structure, Study Models and Small-Molecule Drugs for the Treatment of Inherited BSEP Deficiencies. 61
33466755 2021
27
Assessment of Adenosine Triphosphatase Phospholipid Transporting 8B1 (ATP8B1) Function in Patients With Cholestasis With ATP8B1 Deficiency by Using Peripheral Blood Monocyte-Derived Macrophages. 61
33437900 2021
28
Clinicohistological correlation of etiological spectrum of chronic liver disease diagnosed during noncirrhotic stages in children: Can need of liver biopsy be obviated? 61
33490609 2021
29
[Clinical characteristics and gene variants of patients with infantile intrahepatic cholestasis]. 61
33476544 2021
30
Progressive Familial Intrahepatic Cholestasis Type 1 Associated with Cherry-Red Spots in an Infant: A First Case Report. 61
33376662 2020
31
Letter to the editor - Liver cell models for premature termination codon readthrough analyses. 61
33314224 2020
32
Carriers of ABCB4 gene variants show a mild clinical course, but impaired quality of life and limited risk for cholangiocarcinoma. 61
32893960 2020
33
Synthetic human ABCB4 mRNA therapy rescues severe liver disease phenotype in a BALB/c.Abcb4-/- mouse model of PFIC3. 61
33340584 2020
34
Gene Therapy for Progressive Familial Intrahepatic Cholestasis: Current Progress and Future Prospects. 61
33383947 2020
35
Pediatric Pure Red Cell Aplasia Caused by Tacrolimus After Living-Donor Liver Transplant. 61
31724928 2020
36
Molecular overview of progressive familial intrahepatic cholestasis. 61
33384548 2020
37
Portal vein reconstruction using side-to-side unification technique for infant-to-infant deceased donor whole liver transplantation. 61
33234747 2020
38
Pediatric liver transplantation with hyperreduced left lateral segment graft. 61
33234754 2020
39
ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression. 61
32808743 2020
40
Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China. 61
33215027 2020
41
Case report: progressive familial intrahepatic cholestasis type 3 with compound heterozygous ABCB4 variants diagnosed 15 years after liver transplantation. 61
33256620 2020
42
Biopsy Validated Study of Biomarkers for Liver Fibrosis and Transplant Prediction in Inherited Cholestasis. 61
33024920 2020
43
Cholestasis Due to USP53 Deficiency. 61
33075013 2020
44
Nasobiliary drainage prior to surgical biliary diversion in progressive familial intrahepatic cholestasis type II. 61
32291498 2020
45
Systematic Review and Meta-analysis: Partial External Biliary Diversion in Progressive Familial Intrahepatic Cholestasis. 61
32433433 2020
46
Side-to-side portal vein reconstruction for infant-to-infant deceased donor whole liver transplantation: Report of 2 cases with video. 61
32843595 2020
47
Functional rescue of an ABCB11 mutant by ivacaftor: A new targeted pharmacotherapy approach in bile salt export pump deficiency. 61
32433800 2020
48
Surgical diversion of enterohepatic circulation in pediatric cholestasis. 61
32861450 2020
49
Potential of ileal bile acid transporter inhibition as a therapeutic target in Alagille syndrome and progressive familial intrahepatic cholestasis. 61
32492754 2020
50
Progressive familial intrahepatic cholestasis type 4 in an Indian child: presentation, initial course and novel compound heterozygous mutation. 61
32636225 2020

Variations for Progressive Familial Intrahepatic Cholestasis

ClinVar genetic disease variations for Progressive Familial Intrahepatic Cholestasis:

6 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATP8B1 NM_001374385.1(ATP8B1):c.1581CTT[2] (p.Phe529del) Microsatellite Pathogenic 918158 GRCh37: 18:55351309-55351311
GRCh38: 18:57684077-57684079
2 USP53 NM_019050.2(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.890A>G (p.Glu297Gly) SNV Pathogenic 6590 rs11568372 GRCh37: 2:169847329-169847329
GRCh38: 2:168990819-168990819
4 ATP8B1 , LOC100505549 NM_005603.6(ATP8B1):c.2637G>A (p.Leu879=) SNV Uncertain significance 327475 rs199716374 GRCh37: 18:55328476-55328476
GRCh38: 18:57661244-57661244
5 ABCB11 NM_003742.4(ABCB11):c.2834G>A (p.Ser945Asn) SNV Uncertain significance 332024 rs200857579 GRCh37: 2:169791916-169791916
GRCh38: 2:168935406-168935406
6 ATP8B1 , LOC100505549 NM_005603.6(ATP8B1):c.3450C>T (p.Ile1150=) SNV Uncertain significance 327469 rs886054009 GRCh37: 18:55317680-55317680
GRCh38: 18:57650448-57650448
7 ABCB11 NM_003742.4(ABCB11):c.1699G>A (p.Val567Ile) SNV Uncertain significance 332032 rs886055066 GRCh37: 2:169826665-169826665
GRCh38: 2:168970155-168970155
8 ATP8B1 NM_005603.6(ATP8B1):c.2052C>T (p.Asp684=) SNV Uncertain significance 327482 rs370484798 GRCh37: 18:55336595-55336595
GRCh38: 18:57669363-57669363
9 ABCB11 NM_003742.4(ABCB11):c.*193G>C SNV Uncertain significance 332019 rs886055061 GRCh37: 2:169779939-169779939
GRCh38: 2:168923429-168923429
10 ATP8B1 , LOC100505549 NM_005603.6(ATP8B1):c.2098-30_2098-28dup Duplication Likely benign 327477 rs34422185 GRCh37: 18:55335786-55335787
GRCh38: 18:57668554-57668555
11 ATP8B1 , LOC100505549 NM_005603.6(ATP8B1):c.2098-30_2098-26dup Duplication Likely benign 327479 rs34422185 GRCh37: 18:55335786-55335787
GRCh38: 18:57668554-57668555
12 ATP8B1 , LOC100505549 NM_005603.6(ATP8B1):c.2098-30_2098-24dup Duplication Likely benign 327481 rs34422185 GRCh37: 18:55335786-55335787
GRCh38: 18:57668554-57668555
13 ATP8B1 , LOC100505549 NM_005603.6(ATP8B1):c.2098-30_2098-27dup Duplication Benign 327478 rs34422185 GRCh37: 18:55335786-55335787
GRCh38: 18:57668554-57668555
14 ATP8B1 , LOC100505549 NM_005603.6(ATP8B1):c.2098-30_2098-25dup Duplication Benign 327480 rs34422185 GRCh37: 18:55335786-55335787
GRCh38: 18:57668554-57668555
15 ATP8B1 , LOC100505549 NM_005603.6(ATP8B1):c.*2015del Deletion Benign 327438 rs35833803 GRCh37: 18:55313705-55313705
GRCh38: 18:57646473-57646473

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 COSM94430614 ZSWIM1 liver,NS,carcinoma,hepatocellular carcinoma c.1399A>C p.S467R 20:45883991-45883991 12
3 COSM94436083 ZSWIM1 liver,NS,carcinoma,hepatocellular carcinoma c.1399A>C p.S467R 20:45883991-45883991 12
4 COSM94063771 ZSCAN20 liver,NS,carcinoma,hepatocellular carcinoma c.2314G>T p.G772W 1:33494658-33494658 12
5 COSM88264637 ZRSR2 liver,NS,carcinoma,hepatocellular carcinoma c.304G>T p.E102* 23:15803788-15803788 12
6 COSM102741209 ZNRF3 liver,NS,carcinoma,hepatocellular carcinoma c.859A>G p.M287V 22:29049340-29049340 12
7 COSM131494492 ZNRF3 liver,NS,carcinoma,hepatocellular carcinoma c.1159A>G p.M387V 22:29049340-29049340 12
8 COSM103081572 ZNRF3 liver,NS,carcinoma,hepatocellular carcinoma c.859A>G p.M287V 22:29049340-29049340 12
9 COSM95977701 ZNFX1 liver,NS,carcinoma,hepatocellular carcinoma c.2580G>A p.L860= 20:49257501-49257501 12
10 COSM102131817 ZNFX1 liver,NS,carcinoma,hepatocellular carcinoma c.2580G>A p.L860= 20:49257501-49257501 12
11 COSM95960776 ZNFX1 liver,NS,carcinoma,hepatocellular carcinoma c.2580G>A p.L860= 20:49257501-49257501 12
12 COSM113317148 ZNF853 liver,NS,carcinoma,hepatocellular carcinoma c.1610G>T p.G537V 7:6622601-6622601 12
13 COSM99592496 ZNF829 liver,NS,carcinoma,hepatocellular carcinoma c.829T>A p.F277I 19:36891962-36891962 12
14 COSM128686611 ZNF829 liver,NS,carcinoma,hepatocellular carcinoma c.1072T>A p.F358I 19:36891962-36891962 12
15 COSM123358576 ZNF827 liver,NS,carcinoma,hepatocellular carcinoma c.691C>T p.L231= 4:145885684-145885684 12
16 COSM123949383 ZNF827 liver,NS,carcinoma,hepatocellular carcinoma c.1741C>T p.L581= 4:145885684-145885684 12
17 COSM101741672 ZNF827 liver,NS,carcinoma,hepatocellular carcinoma c.1741C>T p.L581= 4:145885684-145885684 12
18 COSM86004822 ZNF653 liver,NS,carcinoma,hepatocellular carcinoma c.1553A>C p.H518P 19:11485673-11485673 12
19 COSM98561269 ZNF615 liver,NS,carcinoma,hepatocellular carcinoma c.141G>A p.V47= 19:52002156-52002156 12
20 COSM142353152 ZNF615 liver,NS,carcinoma,hepatocellular carcinoma c.141G>A p.V47= 19:52002156-52002156 12
21 COSM142221290 ZNF615 liver,NS,carcinoma,hepatocellular carcinoma c.141G>A p.V47= 19:52002156-52002156 12
22 COSM99854658 ZNF615 liver,NS,carcinoma,hepatocellular carcinoma c.156G>A p.V52= 19:52002156-52002156 12
23 COSM139729931 ZNF615 liver,NS,carcinoma,hepatocellular carcinoma c.141G>A p.V47= 19:52002156-52002156 12
24 COSM141470046 ZNF615 liver,NS,carcinoma,hepatocellular carcinoma c.141G>A p.V47= 19:52002156-52002156 12
25 COSM141819438 ZNF615 liver,NS,carcinoma,hepatocellular carcinoma c.141G>A p.V47= 19:52002156-52002156 12
26 COSM145038099 ZNF615 liver,NS,carcinoma,hepatocellular carcinoma c.141G>A p.V47= 19:52002156-52002156 12
27 COSM91868668 ZNF536 liver,NS,carcinoma,hepatocellular carcinoma c.3900G>T p.K1300N 19:30557161-30557161 12
28 COSM91880764 ZNF536 liver,NS,carcinoma,hepatocellular carcinoma c.2171-78T>G p.? 19:30534769-30534769 12
29 COSM140721836 ZNF521 liver,NS,carcinoma,hepatocellular carcinoma c.2998+205G>A p.? 18:25194955-25194955 12
30 COSM131506983 ZNF521 liver,NS,carcinoma,hepatocellular carcinoma c.3658+205G>A p.? 18:25194955-25194955 12
31 COSM94799980 ZNF521 liver,NS,carcinoma,hepatocellular carcinoma c.3658+205G>A p.? 18:25194955-25194955 12
32 COSM90582798 ZNF518B liver,NS,carcinoma,hepatocellular carcinoma c.1624G>T p.E542* 4:10444705-10444705 12
33 COSM87577038 ZNF462 liver,NS,carcinoma,hepatocellular carcinoma c.6715G>T p.V2239L 9:106974156-106974156 12
34 COSM109096265 ZNF462 liver,NS,carcinoma,hepatocellular carcinoma c.3433G>T p.V1145L 9:106974156-106974156 12
35 COSM104985080 ZNF385B liver,NS,carcinoma,hepatocellular carcinoma c.298+23785G>T p.? 2:179745718-179745718 12
36 COSM104427909 ZNF385B liver,NS,carcinoma,hepatocellular carcinoma c.20G>T p.S7I 2:179745718-179745718 12
37 COSM151538615 ZNF385B liver,NS,carcinoma,hepatocellular carcinoma c.253+23785G>T p.? 2:179745718-179745718 12
38 COSM127708351 ZNF345 liver,NS,carcinoma,hepatocellular carcinoma c.47-856A>T p.? 19:36891962-36891962 12
39 COSM135887725 ZNF276 liver,NS,carcinoma,hepatocellular carcinoma c.1168C>G p.L390V 16:89734008-89734008 12
40 COSM84511025 ZNF276 liver,NS,carcinoma,hepatocellular carcinoma c.1219C>G p.L407V 16:89734008-89734008 12
41 COSM111609487 ZNF276 liver,NS,carcinoma,hepatocellular carcinoma c.1444C>G p.L482V 16:89734008-89734008 12
42 COSM92353291 ZNF26 liver,NS,carcinoma,hepatocellular carcinoma c.1010C>T p.T337I 12:133010889-133010889 12
43 COSM130415812 ZNF26 liver,NS,carcinoma,hepatocellular carcinoma c.950C>T p.T317I 12:133010889-133010889 12
44 COSM88697750 ZNF217 liver,NS,carcinoma,hepatocellular carcinoma c.*194A>T p.? 20:53569094-53569094 12
45 COSM95253159 ZNF217 liver,NS,carcinoma,hepatocellular carcinoma c.*194A>T p.? 20:53569094-53569094 12
46 COSM94505616 ZMYND12 liver,NS,carcinoma,hepatocellular carcinoma c.425-1G>T p.? 1:42440026-42440026 12
47 COSM89943752 ZMYM4 liver,NS,carcinoma,hepatocellular carcinoma c.86-8201G>T p.? 1:35350724-35350724 12
48 COSM101398456 ZIC2 liver,NS,carcinoma,hepatocellular carcinoma c.-18C>T p.? 13:99982047-99982047 12
49 COSM113521587 ZGPAT liver,NS,carcinoma,hepatocellular carcinoma c.*197C>A p.? 20:63736116-63736116 12
50 COSM94679661 ZGPAT liver,NS,carcinoma,hepatocellular carcinoma c.*197C>A p.? 20:63736116-63736116 12

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 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 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.94 SLCO1B3 SLCO1B1 SLC10A2 SLC10A1 NR1H4 GGT3P
2
Show member pathways
13.23 SLCO1B3 SLCO1B1 ATP8B1 ABCG5 ABCC2 ABCB4
3
Show member pathways
12.04 SLCO1B3 SLCO1B1 SLC10A2 SLC10A1 NR1H4 FABP6
4
Show member pathways
11.93 SLCO1B1 ABCC2 ABCB1
5
Show member pathways
11.89 SLCO1B3 SLCO1B1 ABCC2 ABCB11 ABCB1
6
Show member pathways
11.89 SLCO1B1 SLC10A1 ABCC2 ABCB4 ABCB11 ABCB1
7
Show member pathways
11.83 ABCG5 ABCB11 ABCB1
8
Show member pathways
11.55 SLCO1B3 SLCO1B1 ABCC2 ABCB1
9
Show member pathways
11.48 SLCO1B1 ABCC2 ABCB1
10
Show member pathways
11.42 SLCO1B3 ABCC2 ABCB1
11 11.28 SLCO1B3 SLCO1B1 SLC10A2 SLC10A1 NR1H4 ABCG5
12 11.27 SLCO1B3 SLCO1B1 ABCB1
13
Show member pathways
11.2 SLCO1B3 SLCO1B1 ABCB1
14 11.18 NR1H4 ABCG5 ABCC2 ABCB4 ABCB11 ABCB1
15
Show member pathways
11.01 SLCO1B3 SLCO1B1 ABCC2 ABCB1
16 10.96 ABCC2 ABCB1
17 10.95 GGT3P GGT1
18 10.95 SLC10A1 NR1H4 ABCB4 ABCB11
19 10.83 ABCC2 ABCB1
20 10.74 ABCC2 ABCB1
21 10.66 SLCO1B1 SLC10A1 NR1H4 ABCC2 ABCB11 ABCB1
22 10.55 ABCC2 ABCB1

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 10.36 TMEM30A TJP2 SLCO1B3 SLCO1B1 SLC10A2 SLC10A1
2 plasma membrane GO:0005886 10.17 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 9.81 SLCO1B3 SLCO1B1 SLC10A2 SLC10A1 ATP8B1 ABCG5
5 basolateral plasma membrane GO:0016323 9.78 SLCO1B3 SLCO1B1 SLC10A1 ABCB11
6 phospholipid-translocating ATPase complex GO:1990531 9.43 TMEM30A ATP8B1
7 ATP-binding cassette (ABC) transporter complex GO:0043190 9.4 ABCG5 ABCD4
8 intracellular canaliculus GO:0046691 9.37 ABCC2 ABCB11
9 apical plasma membrane GO:0016324 9.23 TMEM30A SLC10A2 ATP8B1 ABCG5 ABCC2 ABCB4
10 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 27)
# Name GO ID Score Top Affiliating Genes
1 response to estradiol GO:0032355 9.81 GGT3P GGT1 ABCC2
2 lipid transport GO:0006869 9.8 TMEM30A FABP6 ATP8B1 ABCG5 ABCB4
3 cholesterol homeostasis GO:0042632 9.79 NR1H4 ABCG5 ABCB11
4 phospholipid translocation GO:0045332 9.67 TMEM30A ATP8B1 ABCB4 ABCB1
5 transmembrane transport GO:0055085 9.65 SLCO1B3 SLCO1B1 SLC10A2 SLC10A1 ABCG5 ABCD4
6 sodium-independent organic anion transport GO:0043252 9.63 SLCO1B3 SLCO1B1
7 glutathione biosynthetic process GO:0006750 9.62 GGT3P GGT1
8 organic anion transport GO:0015711 9.62 SLCO1B3 SLCO1B1 ATP8B1 ABCC2
9 glutathione catabolic process GO:0006751 9.61 GGT3P GGT1
10 leukotriene D4 biosynthetic process GO:1901750 9.61 GGT3P GGT1
11 bile acid metabolic process GO:0008206 9.61 NR1H4 ATP8B1 ABCB11
12 transepithelial transport GO:0070633 9.6 ABCC2 ABCB1
13 regulation of immune system process GO:0002682 9.59 GGT3P GGT1
14 drug transport across blood-brain barrier GO:1990962 9.58 ABCC2 ABCB1
15 cellular response to bile acid GO:1903413 9.58 NR1H4 ABCB4
16 aminophospholipid transport GO:0015917 9.57 TMEM30A ATP8B1
17 regulation of bile acid secretion GO:0120188 9.56 SLC10A1 ABCC2
18 bile acid signaling pathway GO:0038183 9.56 SLC10A1 NR1H4 ABCG5 ABCC2
19 positive regulation of phospholipid translocation GO:0061092 9.55 TMEM30A ABCB4
20 canalicular bile acid transport GO:0015722 9.54 ABCC2 ABCB11
21 regulation of chloride transport GO:2001225 9.52 ATP8B1 ABCB1
22 response to 17alpha-ethynylestradiol GO:1904486 9.51 SLC10A1 ABCC2
23 ceramide translocation GO:0099040 9.49 ABCB4 ABCB1
24 drug export GO:0046618 9.48 ABCC2 ABCB11
25 peptide modification GO:0031179 9.46 GGT3P GGT1
26 drug transmembrane transport GO:0006855 9.46 TMEM30A ATP8B1 ABCC2 ABCB11
27 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 18)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 10.12 ATP8B1 ABCG5 ABCD4 ABCC2 ABCB4 ABCB11
2 transmembrane transporter activity GO:0022857 9.84 SLCO1B3 SLCO1B1 ABCC2 ABCB1
3 ATPase activity GO:0016887 9.63 ABCG5 ABCD4 ABCC2 ABCB4 ABCB11 ABCB1
4 sodium-independent organic anion transmembrane transporter activity GO:0015347 9.57 SLCO1B3 SLCO1B1
5 organic anion transmembrane transporter activity GO:0008514 9.56 SLCO1B3 ABCC2
6 glutathione hydrolase activity GO:0036374 9.55 GGT3P GGT1
7 phosphatidylethanolamine-translocating ATPase activity GO:0090555 9.52 ABCB4 ABCB1
8 bile acid:sodium symporter activity GO:0008508 9.51 SLC10A2 SLC10A1
9 xenobiotic transmembrane transporter activity GO:0042910 9.5 ABCC2 ABCB4 ABCB1
10 leukotriene C4 gamma-glutamyl transferase activity GO:0103068 9.49 GGT3P GGT1
11 hypoglycin A gamma-glutamyl transpeptidase activity GO:0102953 9.48 GGT3P GGT1
12 phosphatidylcholine-translocating ATPase activity GO:0090554 9.46 ABCB4 ABCB1
13 peptidyltransferase activity GO:0000048 9.43 GGT3P GGT1
14 xenobiotic transmembrane transporting ATPase activity GO:0008559 9.43 ABCC2 ABCB11 ABCB1
15 aminophospholipid transmembrane transporter activity GO:0015247 9.4 TMEM30A ATP8B1
16 ceramide-translocating ATPase activity GO:0099038 9.37 ABCB4 ABCB1
17 bile acid transmembrane transporter activity GO:0015125 9.26 SLCO1B3 SLCO1B1 SLC10A1 ABCB11
18 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.1 ABCG5 ABCD4 ABCC2 ABCB4 ABCB11 ABCB1

Sources for Progressive Familial Intrahepatic Cholestasis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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