PFIC
MCID: PRG047
MIFTS: 59

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 25 59 37 15
Cholestasis, Intrahepatic, Familial, Progressive 40
Cholestasis, Progressive Familial Intrahepatic 75
Low Γ-Gt Familial Intrahepatic Cholestasis 25
Abcb11-Related Intrahepatic Cholestasis 25
Atp8b1-Related Intrahepatic Cholestasis 25
Abcb4-Related Intrahepatic Cholestasis 25
Pfic; Byler Disease 12
Mdr3 Deficiency 25
Bsep Deficiency 25
Fic1 Deficiency 25
Byler Syndrome 25
Byler Disease 25
Pfic 59

Characteristics:

Orphanet epidemiological data:

59
progressive familial intrahepatic cholestasis
Inheritance: Autosomal recessive; Age of onset: Adolescent,Childhood,Infancy,Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:0070221
KEGG 37 H00624
ICD10 via Orphanet 34 K76.8
UMLS via Orphanet 73 C0268312
Orphanet 59 ORPHA172
UMLS 72 C0268312

Summaries for Progressive Familial Intrahepatic Cholestasis

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

MalaCards based summary : Progressive Familial Intrahepatic Cholestasis, also known as cholestasis, intrahepatic, familial, progressive, is related to cholestasis, progressive familial intrahepatic, 3 and cholestasis, progressive familial intrahepatic, 2. 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 Liver Extracts and Bile Acids and Salts have been mentioned in the context of this disorder. Affiliated tissues include liver, skin 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 : 37
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 : 75 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

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

(show top 50) (show all 99)
# Related Disease Score Top Affiliating Genes
1 cholestasis, progressive familial intrahepatic, 3 34.0 ATP8B1 ABCB4 ABCB11
2 cholestasis, progressive familial intrahepatic, 2 33.3 NR1H4 ATP8B1 ABCB4 ABCB11
3 cholestasis, progressive familial intrahepatic, 4 33.0 TJP2 ATP8B1 ABCB4 ABCB11
4 cholestasis, benign recurrent intrahepatic, 1 32.5 SLC10A2 ATP8B1 ABCB11
5 cholestasis, progressive familial intrahepatic, 1 32.4 SLC10A2 NR1H4 ATP8B1 ABCB4 ABCB11
6 atp8b1 deficiency 30.9 NR1H4 ATP8B1 ABCB11
7 cholangitis 30.6 ABCB4 ABCB11
8 alagille syndrome 1 30.4 ATP8B1 ABCB4 ABCB11
9 cholestasis, benign recurrent intrahepatic, 2 30.4 ATP8B1 ABCB11
10 liver disease 30.2 NR1H4 ATP8B1 ABCB4 ABCB11
11 cholelithiasis 29.9 NR1H4 ABCB4
12 biliary atresia 29.7 SLC10A2 NR1H4 ATP8B1
13 cholestasis 29.0 TJP2 SLC10A2 NR1H4 ATP8B1 ABCC2 ABCB4
14 intrahepatic cholestasis of pregnancy 27.7 SLC10A2 NR1H4 ATP8B1 ABCC2 ABCB4 ABCB11
15 myo5b-related progressive familial intrahepatic cholestasis 12.6
16 cholestasis, progressive familial intrahepatic, 5 12.4
17 bile acid synthesis defect, congenital, 1 12.3
18 arthrogryposis, renal dysfunction, and cholestasis 1 11.4
19 bile acid synthesis defect, congenital, 2 11.4
20 familial intrahepatic cholestasis 11.2
21 cholestasis, intrahepatic, of pregnancy, 1 10.7
22 liver cirrhosis 10.6
23 autosomal recessive disease 10.5
24 portal hypertension 10.4
25 diarrhea 10.4
26 splenomegaly 10.4
27 47,xyy 10.3
28 hepatocellular carcinoma 10.2
29 varicose veins 10.2
30 wilson disease 10.2
31 ataxia and polyneuropathy, adult-onset 10.2
32 gallbladder disease 1 10.2
33 cholestasis, intrahepatic, of pregnancy 3 10.2
34 steatorrhea 10.2
35 rickets 10.2
36 primary biliary cirrhosis 10.2
37 acute liver failure 10.2
38 hypercholesterolemia, familial, 1 10.1
39 rapidly involuting congenital hemangioma 10.1
40 protein-losing enteropathy 10.1
41 inherited metabolic disorder 10.1
42 traumatic brain injury 10.1
43 abetalipoproteinemia 10.0
44 branchiootic syndrome 1 10.0
45 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
46 sensorineural hearing loss 10.0
47 osteomalacia 10.0
48 neuroaxonal dystrophy 10.0
49 bilirubin metabolic disorder 10.0
50 myopathy 10.0

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:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
2 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
3 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
4 malabsorption 59 32 hallmark (90%) Very frequent (99-80%) HP:0002024
5 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
6 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
7 jaundice 59 32 hallmark (90%) Very frequent (99-80%) HP:0000952
8 abnormality of coagulation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001928
9 delayed skeletal maturation 59 32 frequent (33%) Frequent (79-30%) HP:0002750
10 reduced bone mineral density 59 32 frequent (33%) Frequent (79-30%) HP:0004349
11 hypocalcemia 59 32 frequent (33%) Frequent (79-30%) HP:0002901
12 abnormal thrombocyte morphology 32 frequent (33%) HP:0001872
13 neoplasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0002664
14 abnormality of thrombocytes 59 Frequent (79-30%)
15 cholestasis 59 Very frequent (99-80%)

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 9.7 ABCB1 ABCB11 ABCB4 ATP8B1 NR1H4 SLC10A2
2 homeostasis/metabolism MP:0005376 9.56 ABCB1 ABCB11 ABCB4 ABCC2 ATP8B1 FABP6
3 liver/biliary system MP:0005370 9.23 ABCB1 ABCB11 ABCB4 ABCC2 ATP8B1 FABP6

Drugs & Therapeutics for Progressive Familial Intrahepatic Cholestasis

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts Phase 2
2 Bile Acids and Salts Phase 2
3
Glycerol Approved, Investigational 56-81-5 753
4 Estrogens
5 Lecithin
6 Alpha 1-Antitrypsin
7 Protein C Inhibitor
8 Gastrointestinal Agents
9 4-phenylbutyric acid
10 Protective Agents

Interventional clinical trials:

(show all 16)
# 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 Recruiting NCT03905330 Phase 3 Maralixibat
2 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
3 A Double-Blind, Randomized, Placebo-Controlled, Phase 3 Study to Demonstrate Efficacy and Safety of A4250 in Children With Progressive Familial Intrahepatic Cholestasis Types 1 and 2 (PEDFIC 1) Recruiting NCT03566238 Phase 3 A4250 (odevixibat);Placebo
4 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
5 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 Active, not recruiting NCT02057718 Phase 2 LUM001
6 Efficacy and Tolerance of RADIOEMBOLIZATION for Patients With Unresectable Intrahepatic Cholangiocarcinoma With Tumor Progression After First-line Therapy Terminated NCT01383746 Phase 1, Phase 2
7 Mutations and Polymorphisms of Gene ABCB4 Among Women Suffering From Intrahepatic Cholestasis of Pregnancy. A Study With a Control Group. Completed NCT00700232
8 Intralumenal Effects on Cholesterol Absorption/Synthesis Completed NCT00328211 Pluronic F-68
9 Search for Maternal Microchimerism in Swollen Portal Lymph Nodes of Infants With Biliary Atresia. Completed NCT02292862
10 Longitudinal Study of Genetic Causes of Intrahepatic Cholestasis Recruiting NCT00571272
11 Longitudinal Study of Mitochondrial Hepatopathies Recruiting NCT01148550
12 Sulfation of Bile Acids as a Biomarker for Hepatobiliary Diseases Recruiting NCT01200082
13 NAtural Course and Prognosis of PFIC and Effect of Biliary Diversion (NAPPED Study), Meta-analysis of Individual Patient Data of PFIC Before and After Surgery (Bile Diversion or Liver Transplantation) Enrolling by invitation NCT03930810
14 Transition From Buphenyl to RAVICTI for the Therapy of Byler Disease No longer available NCT01949766 Glycerol phenylbutyrate
15 Compassionate Use of Buphenyl® in the Treatment of Byler's Disease No longer available NCT01784718 Buphenyl
16 Expanded Access Protocol for an Intermediate Size Population - RAVICTI for Byler Disease No longer available NCT02094222 RAVICTI

Search NIH Clinical Center for Progressive Familial Intrahepatic Cholestasis

Genetic Tests for Progressive Familial Intrahepatic Cholestasis

Anatomical Context for Progressive Familial Intrahepatic Cholestasis

MalaCards organs/tissues related to Progressive Familial Intrahepatic Cholestasis:

41
Liver, Skin, Pancreas, Spleen, Eye, Bone, Lymph Node

Publications for Progressive Familial Intrahepatic Cholestasis

Articles related to Progressive Familial Intrahepatic Cholestasis:

(show top 50) (show all 486)
# Title Authors PMID Year
1
Diagnostic Yield of an Algorithm for Neonatal and Infantile Cholestasis Integrating Next-Generation Sequencing. 38
31160058 2019
2
[Phenotype and genetic analysis of a pedigree affected with progressive familial intrahepatic cholestasis]. 38
31400129 2019
3
Liver-directed gene therapy results in long-term correction of progressive familial intrahepatic cholestasis type 3 in mice. 38
30935993 2019
4
Phenotype-Genotype Correlation of North Indian Progressive Familial Intrahepatic Cholestasis type2 Children Shows p.Val444Ala and p.Asn591Ser Variants and Retained BSEP Expression. 38
31335238 2019
5
Progressive Familial Intrahepatic Cholestasis in Korea: A Clinicopathological Study of Five Patients. 38
31091858 2019
6
Familial intrahepatic cholestasis: New and wide perspectives. 38
31105019 2019
7
Plectin Mutations in Progressive Familial Intrahepatic Cholestasis. 38
31269534 2019
8
Targeting FXR in Cholestasis. 38
31201556 2019
9
First report of successful transplantation of a pediatric donor liver graft after hypothermic machine perfusion. 38
30801955 2019
10
Persistent cholestasis resulting from duodenal papillary carcinoma in an adolescent male: A case report. 38
31145285 2019
11
Beyond an Obvious Cause of Cholestasis in a Toddler: Compound Heterozygosity for ABCB11 Mutations. 38
31015375 2019
12
Biliary atresia combined with progressive familial intrahepatic cholestasis type 3: A case report and review of the literature. 38
31083246 2019
13
Prevention of Cholestatic Liver Disease and Reduced Tumorigenicity in a Murine Model of PFIC Type 3 Using Hybrid AAV-piggyBac Gene Therapy. 38
31099022 2019
14
Expanding etiology of progressive familial intrahepatic cholestasis. 38
31183005 2019
15
Posttransplant epithelioid inflammatory myofibroblastic sarcoma: A case report. 38
30971562 2019
16
Structural analogues of roscovitine rescue the intracellular traffic and the function of ER-retained ABCB4 variants in cell models. 38
31040306 2019
17
Progressive Familial Intrahepatic Cholestasis Presenting With an Intracranial Bleed and Mimicking Abusive Head Trauma. 38
31083836 2019
18
Drugs and hepatic transporters: A review. 38
31004787 2019
19
ABCB4/MDR3 in health and disease - at the crossroads of biochemistry and medicine. 38
30730833 2019
20
Substrates of P4-ATPases: beyond aminophospholipids (phosphatidylserine and phosphatidylethanolamine). 38
30509129 2019
21
Alloimmunity and Cholestasis After Liver Transplantation in Children With Progressive Familial Intrahepatic Cholestasis. 38
30664572 2019
22
Systematic review of progressive familial intrahepatic cholestasis. 38
30236549 2019
23
Panel-Based Next-Generation Sequencing for the Diagnosis of Cholestatic Genetic Liver Diseases: Clinical Utility and Challenges. 38
30366773 2019
24
Constitutive Androstane Receptor Differentially Regulates Bile Acid Homeostasis in Mouse Models of Intrahepatic Cholestasis. 38
30620001 2019
25
Hydrophilic bile acids prevent liver damage caused by lack of biliary phospholipid in Mdr2-/- mice. 38
30416103 2019
26
Two Cases of Progressive Familial Intrahepatic Cholestasis Type 2: Role of Surgery with Brief Review of Literature. 38
30686894 2019
27
Neurological Complications associated with Pediatric Liver Transplant in Namazi Hospital: One-Year Follow-Up. 38
30891167 2019
28
Novel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver disease. 38
30658709 2019
29
Long-term outcomes after cholecystocolostomy for progressive familial intrahepatic cholestasis. 38
29934967 2018
30
[Clinical and pathological features of inherited metabolic liver disease in adults]. 38
30669779 2018
31
Surgical management of children and adolescents with upfront completely resected hepatocellular carcinoma. 38
29968976 2018
32
Progressive Familial Intrahepatic Cholestasis. 38
30266155 2018
33
Phenotypic variability in Tunisian PFIC3 patients harboring a complex genotype with a differential clinical outcome of UDCA treatment. 38
30036524 2018
34
ABCB4 Gene Aberrations in Human Liver Disease: An Evolving Spectrum. 38
30357767 2018
35
Ductopenia and cirrhosis in a 32-year-old woman with progressive familial intrahepatic cholestasis type 3: A case report and review of the literature. 38
30416319 2018
36
Quality of Life in Patients With Progressive Familial Intrahepatic Cholestasis: No Difference Between Post-liver Transplantation and Post-partial External Biliary Diversion. 38
30052569 2018
37
[Clinical and genetic analysis of a family affected by progressive familial intraphepatic cholestasis type 3]. 38
30298496 2018
38
Allogeneic haematopoietic stem cell transplantation eliminates alloreactive inhibitory antibodies after liver transplantation for bile salt export pump deficiency. 38
29935200 2018
39
Jaundice revisited: recent advances in the diagnosis and treatment of inherited cholestatic liver diseases. 38
30367658 2018
40
Liver Transplantation for Progressive Familial Intrahepatic Cholestasis. 38
30250015 2018
41
Pediatric hepatocellular carcinoma. 38
30254403 2018
42
[Clinical and genetic analysis of an infant with progressive familial intrahepatic cholestasis type II]. 38
30210030 2018
43
Histological changes of the intestinal mucosa in complications following a living donor liver transplantation for progressive familial intrahepatic cholestasis type 1. 38
29935008 2018
44
Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing. 38
29238877 2018
45
Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis. 38
29973134 2018
46
Diaphragmatic Hernia After Liver Transplant in Children: Report of 2 Cases. 38
27143191 2018
47
Dual catenin loss in murine liver causes tight junctional deregulation and progressive intrahepatic cholestasis. 38
29023813 2018
48
Xenobiotic Nuclear Receptor Signaling Determines Molecular Pathogenesis of Progressive Familial Intrahepatic Cholestasis. 38
29718219 2018
49
Surgical treatment for intractable pruritus in progressive familial intrahepatic cholestasis. 38
30323368 2018
50
Variants Associated with Infantile Cholestatic Syndromes Detected in Extrahepatic Biliary Atresia by Whole Exome Studies: A 20-Case Series from Thailand. 38
29707407 2018

Variations for Progressive Familial Intrahepatic Cholestasis

Cosmic variations for Progressive Familial Intrahepatic Cholestasis:

9 (show top 50) (show all 3417)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM1626018 ZXDB liver,NS,carcinoma,hepatocellular carcinoma c.1308C>A p.D436E 23:57593356-57593356 12
2 COSM1615665 ZSWIM1 liver,NS,carcinoma,hepatocellular carcinoma c.1399A>C p.S467R 20:45883991-45883991 12
3 COSM1602238 ZSCAN20 liver,NS,carcinoma,hepatocellular carcinoma c.2314G>T p.G772W 1:33494658-33494658 12
4 COSM6951673 ZRSR2 liver,NS,carcinoma,hepatocellular carcinoma c.304G>T p.E102* 23:15803788-15803788 12
5 COSM1616325 ZNRF3 liver,NS,carcinoma,hepatocellular carcinoma c.859A>G p.M287V 22:29049340-29049340 12
6 COSM3707827 ZNFX1 liver,NS,carcinoma,hepatocellular carcinoma c.2580G>A p.L860L 20:49257501-49257501 12
7 COSM3707828 ZNFX1 liver,NS,carcinoma,hepatocellular carcinoma c.2580G>A p.L860L 20:49257501-49257501 12
8 COSM1623051 ZNF853 liver,NS,carcinoma,hepatocellular carcinoma c.1610G>T p.G537V 7:6622601-6622601 12
9 COSM1612127 ZNF829 liver,NS,carcinoma,hepatocellular carcinoma c.829T>A p.F277I 19:36891962-36891962 12
10 COSM1618451 ZNF827 liver,NS,carcinoma,hepatocellular carcinoma c.1741C>T p.L581L 4:145885684-145885684 12
11 COSM1611545 ZNF653 liver,NS,carcinoma,hepatocellular carcinoma c.1553A>C p.H518P 19:11485673-11485673 12
12 COSM1612685 ZNF615 liver,NS,carcinoma,hepatocellular carcinoma c.141G>A p.V47V 19:52002156-52002156 12
13 COSM1612018 ZNF536 liver,NS,carcinoma,hepatocellular carcinoma c.3900G>T p.K1300N 19:30557161-30557161 12
14 COSM1618219 ZNF518B liver,NS,carcinoma,hepatocellular carcinoma c.1624G>T p.E542* 4:10444705-10444705 12
15 COSM1624399 ZNF462 liver,NS,carcinoma,hepatocellular carcinoma c.6715G>T p.V2239L 9:106974156-106974156 12
16 COSM1609798 ZNF276 liver,NS,carcinoma,hepatocellular carcinoma c.1219C>G p.L407V 16:89734008-89734008 12
17 COSM1605856 ZNF26 liver,NS,carcinoma,hepatocellular carcinoma c.1010C>T p.T337I 12:133010889-133010889 12
18 COSM1602404 ZMYND12 liver,NS,carcinoma,hepatocellular carcinoma c.425-1G>T p.? 1:42440026-42440026 12
19 COSM1607880 ZFYVE26 liver,NS,carcinoma,hepatocellular carcinoma c.663C>A p.A221A 14:67807621-67807621 12
20 COSM3661787 ZFR liver,NS,carcinoma,hepatocellular carcinoma c.2882C>T p.P961L 5:32364229-32364229 12
21 COSM1270878 ZFP36L2 liver,NS,carcinoma,hepatocellular carcinoma c.910T>G p.S304A 2:43224894-43224894 12
22 COSM1612900 ZFP28 liver,NS,carcinoma,hepatocellular carcinoma c.1865G>A p.C622Y 19:56554650-56554650 12
23 COSM3663890 ZFHX4 liver,NS,carcinoma,hepatocellular carcinoma c.10601C>G p.S3534C 8:76864315-76864315 12
24 COSM6969923 ZFHX3 liver,NS,carcinoma,hepatocellular carcinoma c.10852C>A p.P3618T 16:72787424-72787424 12
25 COSM3717069 ZFHX3 liver,NS,carcinoma,hepatocellular carcinoma c.8342A>G p.Q2781R 16:72794340-72794340 12
26 COSM6219678 ZFHX3 liver,NS,carcinoma,hepatocellular carcinoma c.9997C>T p.Q3333* 16:72788279-72788279 12
27 COSM1613453 ZEB2 liver,NS,carcinoma,hepatocellular carcinoma c.1141A>G p.M381V 2:144400046-144400046 12
28 COSM3717124 ZCCHC14 liver,NS,carcinoma,hepatocellular carcinoma c.71A>T p.Q24L 16:87491757-87491757 12
29 COSM1608898 ZC3H7A liver,NS,carcinoma,hepatocellular carcinoma c.2866A>G p.N956D 16:11751367-11751367 12
30 COSM3705381 ZBTB41 liver,NS,carcinoma,hepatocellular carcinoma c.1700G>A p.R567K 1:197178489-197178489 12
31 COSM1601838 ZBTB40 liver,NS,carcinoma,hepatocellular carcinoma c.3339C>A p.F1113L 1:22524258-22524258 12
32 COSM1610770 ZBTB4 liver,NS,carcinoma,hepatocellular carcinoma c.454G>T p.G152C 17:7466348-7466348 12
33 COSM1601260 ZBTB37 liver,NS,carcinoma,hepatocellular carcinoma c.620G>C p.S207T 1:173870845-173870845 12
34 COSM1624206 ZBTB10 liver,NS,carcinoma,hepatocellular carcinoma c.2136A>G p.T712T 8:80518852-80518852 12
35 COSM1624207 ZBTB10 liver,NS,carcinoma,hepatocellular carcinoma c.2311A>G p.I771V 8:80519295-80519295 12
36 COSM1616586 ZBED4 liver,NS,carcinoma,hepatocellular carcinoma c.2225A>C p.E742A 22:49885887-49885887 12
37 COSM1624117 YTHDF3 liver,NS,carcinoma,hepatocellular carcinoma c.1568A>G p.N523S 8:63187582-63187582 12
38 COSM1603361 YME1L1 liver,NS,carcinoma,hepatocellular carcinoma c.2006A>G p.H669R 10:27116230-27116230 12
39 COSM1617254 YEATS2 liver,NS,carcinoma,hepatocellular carcinoma c.501C>T p.N167N 3:183722100-183722100 12
40 COSM3663693 XPO7 liver,NS,carcinoma,hepatocellular carcinoma c.806A>G p.Y269C 8:21977812-21977812 12
41 COSM1609152 XPO6 liver,NS,carcinoma,hepatocellular carcinoma c.882C>T p.G294G 16:28156289-28156289 12
42 COSM6957749 XPO1 liver,NS,carcinoma,hepatocellular carcinoma c.301+1G>C p.? 2:61522610-61522610 12
43 COSM1624082 XKR4 liver,NS,carcinoma,hepatocellular carcinoma c.1076A>G p.D359G 8:55523350-55523350 12
44 COSM1613650 XIRP2 liver,NS,carcinoma,hepatocellular carcinoma c.9350G>C p.R3117P 2:167250742-167250742 12
45 COSM3660541 XIRP1 liver,NS,carcinoma,hepatocellular carcinoma c.142C>A p.Q48K 3:39189304-39189304 12
46 COSM1625463 XIAP liver,NS,carcinoma,hepatocellular carcinoma c.493G>T p.A165S 23:123886155-123886155 12
47 COSM3663909 WWP1 liver,NS,carcinoma,hepatocellular carcinoma c.210-2A>G p.? 8:86381503-86381503 12
48 COSM1625309 WWC3 liver,NS,carcinoma,hepatocellular carcinoma c.1121C>A p.S374Y 23:10117180-10117180 12
49 COSM1621161 WTAP liver,NS,carcinoma,hepatocellular carcinoma c.283C>T p.Q95* 6:159748200-159748200 12
50 COSM6909096 WT1 liver,NS,carcinoma,hepatocellular carcinoma c.1019T>G p.L340* 11:32396283-32396283 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:

37
# 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 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.91 SLC10A2 NR1H4 FABP6 ABCB11
2
Show member pathways
11.72 ABCC2 ABCB4 ABCB11 ABCB1
3
Show member pathways
11.64 ABCC2 ABCB11 ABCB1
4
Show member pathways
11.34 ABCC2 ABCB1
5
Show member pathways
11.13 ABCC2 ABCB1
6 11.02 ABCC2 ABCB1
7 10.96 SLC10A2 NR1H4 ABCC2 ABCB4 ABCB11 ABCB1
8 10.9 NR1H4 ABCC2 ABCB4 ABCB11 ABCB1
9 10.86 ABCC2 ABCB1
10
Show member pathways
10.78 ABCC2 ABCB1
11 10.71 ABCC2 ABCB1
12 10.71 NR1H4 ABCB4 ABCB11
13 10.69 NR1H4 ABCC2 ABCB11 ABCB1
14 10.43 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 plasma membrane GO:0005886 9.87 TJP2 SLC10A2 ATP8B1 ABCC2 ABCB4 ABCB11
2 integral component of plasma membrane GO:0005887 9.55 SLC10A2 ATP8B1 ABCC2 ABCB4 ABCB11
3 apical plasma membrane GO:0016324 9.35 SLC10A2 ATP8B1 ABCC2 ABCB4 ABCB1
4 brush border membrane GO:0031526 9.26 ATP8B1 ABCC2
5 intercellular canaliculus GO:0046581 8.8 ABCC2 ABCB4 ABCB11

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.72 SLC10A2 ABCC2 ABCB4 ABCB11 ABCB1
2 lipid transport GO:0006869 9.61 FABP6 ATP8B1 ABCB4
3 response to drug GO:0042493 9.48 ABCC2 ABCB1
4 lipid homeostasis GO:0055088 9.46 NR1H4 ABCB4
5 bile acid metabolic process GO:0008206 9.4 NR1H4 ATP8B1
6 canalicular bile acid transport GO:0015722 9.37 ABCC2 ABCB11
7 phospholipid translocation GO:0045332 9.33 ATP8B1 ABCB4 ABCB1
8 ceramide translocation GO:0099040 9.26 ABCB4 ABCB1
9 bile acid and bile salt transport GO:0015721 9.26 SLC10A2 NR1H4 ATP8B1 ABCB11
10 drug transmembrane transport GO:0006855 8.62 ATP8B1 ABCC2

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

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.8 ATP8B1 ABCC2 ABCB4 ABCB11 ABCB1
2 ATPase activity GO:0016887 9.56 ABCC2 ABCB4 ABCB11 ABCB1
3 phosphatidylcholine-translocating ATPase activity GO:0090554 9.16 ABCB4 ABCB1
4 bile acid binding GO:0032052 9.07 NR1H4
5 xenobiotic transmembrane transporting ATPase activity GO:0008559 9.02 ABCB1
6 ceramide-translocating ATPase activity GO:0099038 8.96 ABCB4 ABCB1
7 ATPase activity, coupled to transmembrane movement of substances GO:0042626 8.92 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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