PFIC
MCID: PRG047
MIFTS: 56

Progressive Familial Intrahepatic Cholestasis (PFIC)

Categories: Cancer diseases, Endocrine 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
Abcb4-Related Intrahepatic Cholestasis 25 6
Cholestasis, Intrahepatic, Familial, Progressive 40
Cholestasis, Progressive Familial Intrahepatic 76
Abcb11-Related Intrahepatic Cholestasis 25
Atp8b1-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
Orphanet 59 ORPHA172
UMLS via Orphanet 74 C0268312
ICD10 via Orphanet 34 K76.8
KEGG 37 H00624
UMLS 73 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.

MalaCards based summary : Progressive Familial Intrahepatic Cholestasis, also known as abcb4-related intrahepatic cholestasis, is related to cholestasis, progressive familial intrahepatic, 3 and cholestasis, progressive familial intrahepatic, 2. An important gene associated with Progressive Familial Intrahepatic Cholestasis is ATP8B1 (ATPase Phospholipid Transporting 8B1), and among its related pathways/superpathways are Bile secretion and Cholesterol metabolism. The drugs Pharmaceutical Solutions and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and testes, 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.

Wikipedia : 76 Progressive familial intrahepatic cholestasis (PFIC) is a group of familial cholestatic conditions... more...

Related Diseases for Progressive Familial Intrahepatic Cholestasis

Diseases in the Progressive 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 Myo5b-Related Progressive Familial Intrahepatic Cholestasis

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

(show all 43)
# Related Disease Score Top Affiliating Genes
1 cholestasis, progressive familial intrahepatic, 3 33.9 ABCB11 ABCB4 ATP8B1
2 cholestasis, progressive familial intrahepatic, 2 33.6 ABCB11 ABCB4 ATP8B1 NR1H4
3 cholestasis, progressive familial intrahepatic, 1 33.3 ABCB11 ABCB4 ATP8B1 NR1H4 SLC10A2
4 cholestasis, progressive familial intrahepatic, 4 33.2 ABCB11 ABCB4 ATP8B1 TJP2
5 atp8b1 deficiency 31.8 ABCB11 ATP8B1 NR1H4
6 cholestasis 30.6 ABCB11 ABCB4 ABCC2 ATP8B1 NR1H4 SLC10A2
7 cholestasis, benign recurrent intrahepatic, 1 30.5 ABCB11 ATP8B1 SLC10A2
8 alagille syndrome 1 30.4 ABCB11 ABCB4 ATP8B1
9 liver disease 30.2 ABCB11 ABCB4 ATP8B1 NR1H4
10 cholelithiasis 29.9 ABCB4 NR1H4
11 intrahepatic cholestasis of pregnancy 28.6 ABCB1 ABCB11 ABCB4 ABCC2 ATP8B1 NR1H4
12 myo5b-related progressive familial intrahepatic cholestasis 12.4
13 cholestasis, progressive familial intrahepatic, 5 12.1
14 bile acid synthesis defect, congenital, 1 11.9
15 arthrogryposis, renal dysfunction, and cholestasis 1 11.3
16 bile acid synthesis defect, congenital, 2 11.3
17 wilson disease 10.2
18 liver cirrhosis 10.2
19 cholestasis, benign recurrent intrahepatic, 2 10.1 ABCB11 ATP8B1
20 colchicine resistance 10.1 ABCB1 ABCB11
21 protein-losing enteropathy 10.1
22 sclerosing cholangitis 10.0 ABCB11 ABCB4 NR1H4
23 hepatocellular carcinoma 10.0
24 cholangiocarcinoma 10.0
25 dilated cardiomyopathy 10.0
26 pancreas adenocarcinoma 10.0
27 bone disease 10.0
28 diarrhea 10.0
29 adenocarcinoma 10.0
30 hepatoblastoma 10.0
31 extrahepatic cholestasis 10.0 ABCB4 ABCC2
32 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
33 sensorineural hearing loss 9.9
34 osteomalacia 9.9
35 cholecystitis 9.9
36 biliary atresia 9.9 ATP8B1 NR1H4 SLC10A2
37 familial mediterranean fever 9.9
38 goiter 9.9
39 dubin-johnson syndrome 9.9 ABCC2 SLCO1B1
40 bilirubin metabolic disorder 9.9 ABCC2 SLCO1B1
41 hyperbilirubinemia, rotor type 9.7 ABCC2 SLCO1B1 SLCO1B3
42 bile duct disease 9.6 ABCB11 ABCB4 ABCC2 ATP8B1 NR1H4 SLC10A2
43 biliary tract disease 9.6 ABCB11 ABCB4 ABCC2 ATP8B1 NR1H4 SLC10A2

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 delayed skeletal maturation 59 32 frequent (33%) Frequent (79-30%) HP:0002750
5 malabsorption 59 32 hallmark (90%) Very frequent (99-80%) HP:0002024
6 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
7 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
8 neoplasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0002664
9 reduced bone mineral density 59 32 frequent (33%) Frequent (79-30%) HP:0004349
10 jaundice 59 32 hallmark (90%) Very frequent (99-80%) HP:0000952
11 hypocalcemia 59 32 frequent (33%) Frequent (79-30%) HP:0002901
12 abnormality of coagulation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001928
13 abnormality of thrombocytes 59 Frequent (79-30%)
14 cholestasis 59 Very frequent (99-80%)
15 abnormal thrombocyte morphology 32 frequent (33%) HP:0001872

MGI Mouse Phenotypes related to Progressive Familial Intrahepatic Cholestasis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.61 ABCB1 ABCB11 ABCB4 ABCC2 ATP8B1 FABP6
2 liver/biliary system MP:0005370 9.28 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 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 3
2 Liver Extracts Phase 2
3 Bile Acids and Salts Phase 2
4 Cholestyramine Resin Phase 1
5 Cola Phase 1
6 Anticholesteremic Agents Phase 1
7 Lipid Regulating Agents Phase 1
8 Antimetabolites Phase 1
9 Hypolipidemic Agents Phase 1
10
Pancrelipase Approved, Investigational 53608-75-6
11
Iron Approved 7439-89-6 23925
12
Glycerol Approved, Investigational 56-81-5 753
13 Estrogens
14 Protein C Inhibitor
15 Alpha 1-Antitrypsin
16 pancreatin
17 Gastrointestinal Agents
18 Hematinics
19
Bilirubin 635-65-4 5280352
20 4-phenylbutyric acid
21 Protective Agents

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 This Study Will Investigate the Efficacy and Safety of A4250 in Children With PFIC 1 or 2 Recruiting NCT03566238 Phase 3 A4250;Placebo
2 Long Term Safety & Efficacy Study Evaluating The Effect of A4250 in Children With PFIC Types 1 & 2 Enrolling by invitation NCT03659916 Phase 3 A4250
3 Efficacy and Safety of Maralixibat (SHP625) in the Treatment of Participants With Progressive Familial Intrahepatic Cholestasis (PFIC) Not yet recruiting NCT03353454 Phase 3 Maralixibat;Placebo
4 Open Label Study to Evaluate Efficacy and Long Term Safety of LUM001 in the Treatment of Cholestatic Liver Disease in Patients With Progressive Familial Intrahepatic Cholestasis Active, not recruiting NCT02057718 Phase 2 LUM001
5 An Open Label, Single-dose, Single Period ADME Study of A4250 in Healthy Subjects Completed NCT03082937 Phase 1 3 mg [14C]-A4250 capsule
6 A Safety and Pharmakokinetic Study of A4250 Alone or in Combination With A3384 Completed NCT02963077 Phase 1 A4250;CRC (A3384);Questran;Placebo
7 Validation of the Itch Reported Outcome (ItchRO) Diaries in Pediatric Cholestatic Liver Disease Completed NCT02131623
8 ABCB4 Gene Mutations in Intrahepatic Cholestasis of Pregnancy and Controls Completed NCT00700232
9 Shear Wave Sonoelastography in Pediatric Liver Fibrosis Completed NCT02372682
10 Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC) Recruiting NCT00571272
11 Sulfation of Bile Acids as a Biomarker for Hepatobiliary Diseases Recruiting NCT01200082
12 China Registry for Genetic / Metabolic Liver Diseases Recruiting NCT03131427 Standard of care
13 Buphenyl Therapy for Byler's Disease No longer available NCT01784718 Buphenyl
14 Transition From Buphenyl to RAVICTI for the Therapy of Byler Disease No longer available NCT01949766 Glycerol phenylbutyrate
15 Expanded Access Protocol for an Intermediate Size Population - RAVICTI for Byler Disease Temporarily not 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, Bone, Testes, Small Intestine, Appendix, Pancreas

Publications for Progressive Familial Intrahepatic Cholestasis

Articles related to Progressive Familial Intrahepatic Cholestasis:

(show top 50) (show all 194)
# Title Authors Year
1
Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis. ( 29973134 )
2018
2
Long-term outcome after cholecystocolostomy for progressive familial intrahepatic cholestasis. ( 29934967 )
2018
3
Xenobiotic Nuclear Receptor Signaling Determines Molecular Pathogenesis of Progressive Familial Intrahepatic Cholestasis. ( 29718219 )
2018
4
Histological changes of the intestinal mucosa in complications following a living donor liver transplantation for progressive familial intrahepatic cholestasis type 1. ( 29935008 )
2018
5
Systematic review of progressive familial intrahepatic cholestasis. ( 30236549 )
2018
6
Progressive familial intrahepatic cholestasis: diagnosis, management, and treatment. ( 30237746 )
2018
7
Liver Transplantation for Progressive Familial Intrahepatic Cholestasis. ( 30250015 )
2018
8
Progressive Familial Intrahepatic Cholestasis. ( 30266155 )
2018
9
Surgical treatment for intractable pruritus in progressive familial intrahepatic cholestasis. ( 30323368 )
2018
10
Ductopenia and cirrhosis in a 32-year-old woman with progressive familial intrahepatic cholestasis type 3: A case report and review of the literature. ( 30416319 )
2018
11
Nuclear receptor FXR, bile acids and liver damage: Introducing the progressive familial intrahepatic cholestasis with FXR mutations. ( 28965883 )
2018
12
Quality of Life in Patients With Progressive Familial Intrahepatic Cholestasis: No Difference Between Post-liver Transplantation and Post-partial External Biliary Diversion. ( 30052569 )
2018
13
Cholestasis After Pediatric Liver Transplantation-Recurrence of a Progressive Familial Intrahepatic Cholestasis Phenotype as a Rare Differential Diagnosis: A Case Report. ( 28838453 )
2017
14
Balancing Medical and Non-Accidental Causes of Multiple Fractures in a Child with Progressive Familial Intrahepatic Cholestasis. ( 29118315 )
2017
15
A Rare BSEP Mutation Associated with a Mild Form of Progressive Familial Intrahepatic Cholestasis Type 2. ( 28425419 )
2017
16
Outcomes following partial external biliary diversion in patients with progressive familial intrahepatic cholestasis. ( 27916445 )
2017
17
Long-term outcomes of six patients after partial internal biliary diversion for progressive familial intrahepatic cholestasis. ( 29174177 )
2017
18
Liver transplantation for decompensated liver cirrhosis caused by progressive familial intrahepatic cholestasis type 3: A case report. ( 29390323 )
2017
19
Living Donor Liver Transplantation for Progressive Familial Intrahepatic Cholestasis Type 1: Two Reported Cases. ( 28583540 )
2017
20
Progressive familial intrahepatic cholestasis: A comprehensive review of a challenging liver disease. ( 28195083 )
2017
21
Progressive Familial Intrahepatic Cholestasis Type 2 in an Indian Child. ( 28497004 )
2017
22
A Hepatic immunohistochemistry of bile transporters in progressive familial intrahepatic cholestasis. ( 26845599 )
2016
23
Molecular characterization of exons 6, 8 and 9 of ABCB4 gene in children with Progressive Familial Intrahepatic Cholestasis type 3. ( 27075526 )
2016
24
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. ( 26888176 )
2016
25
A Novel Mutation of ABCB4 in Progressive Familial Intrahepatic Cholestasis 3: Like Mother, Like Daughter. ( 26796082 )
2016
26
Total internal biliary diversion during liver transplantation for type 1 progressive familial intrahepatic cholestasis: a novel approach. ( 27534385 )
2016
27
Cross-Sectional Analysis of Progressive Familial Intrahepatic Cholestasis in Puerto Rican Children. ( 27898169 )
2016
28
Clinical and ABCB11 profiles in Korean infants with progressive familial intrahepatic cholestasis. ( 27239116 )
2016
29
Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3. ( 27256251 )
2016
30
Liver transplantation and the management of progressive familial intrahepatic cholestasis in children. ( 27358773 )
2016
31
Influence of Partial External Biliary Diversion on the Lipid Profile in Children With Progressive Familial Intrahepatic Cholestasis. ( 27875503 )
2016
32
A Novel Truncation Mutation in ATP8B1 Gene in Progressive Familial Intrahepatic Cholestasis. ( 28064265 )
2016
33
Progressive Familial Intrahepatic Cholestasis (PFIC) in Indian Children: Clinical Spectrum and Outcome. ( 27746616 )
2016
34
Recurrence of Progressive Familial Intrahepatic Cholestasis Type 2 Phenotype After Living-donor Liver Transplantation: A Case Report. ( 27932171 )
2016
35
Liver Transplantation as a Treatment for Severe Refractory Vitamin E Deficiency Related to Progressive Familial Intrahepatic Cholestasis Type 2 in a Pediatric Patient. ( 28119944 )
2016
36
Presentation of Progressive Familial Intrahepatic Cholestasis Type 3 Mimicking Wilson Disease: Molecular Genetic Diagnosis and Response to Treatment. ( 26473142 )
2015
37
Progressive Familial Intrahepatic Cholestasis: A Rare Cause of Cirrhosis in Young Adult Patients. ( 26136783 )
2015
38
Novel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3. ( 25593501 )
2015
39
A functional classification of ABCB4 variations causing progressive familial intrahepatic cholestasis type 3. ( 26474921 )
2015
40
Successful pregnancy after ileal exclusion in progressive familial intrahepatic cholestasis type 2. ( 26019043 )
2015
41
Different techniques for biliary diversion in progressive familial intrahepatic cholestasis. ( 26382286 )
2015
42
Targeted pharmacotherapy in progressive familial intrahepatic cholestasis type 2: Evidence for improvement of cholestasis with 4-phenylbutyrate. ( 25716872 )
2015
43
Retargeting of bile salt export pump and favorable outcome in children with progressive familial intrahepatic cholestasis Type 2. ( 25847299 )
2015
44
Late-Onset Drug-Induced Cholestasis in a Living-Related Liver Transplant Donor With Progressive Familial Intrahepatic Cholestasis. ( 26640927 )
2015
45
Brucella infection in a child with progressive familial intrahepatic cholestasis type 2 who had undergone liver transplantation. ( 26148181 )
2015
46
Total biliary diversion as a treatment option for patients with progressive familial intrahepatic cholestasis and Alagille syndrome. ( 26319776 )
2015
47
Functional analysis of ABCB4 mutations relates clinical outcomes of progressive familial intrahepatic cholestasis type 3 to the degree of MDR3 floppase activity. ( 24594635 )
2014
48
Complications following liver transplantation for progressive familial intrahepatic cholestasis. ( 24879297 )
2014
49
Partial internal biliary diversion in progressive familial intrahepatic cholestasis: introduction of a new approach. ( 24693315 )
2014
50
Bile Acid Pool Dynamics in Progressive Familial Intrahepatic Cholestasis with Partial External Bile Diversion. ( 25383786 )
2014

Variations for Progressive Familial Intrahepatic Cholestasis

ClinVar genetic disease variations for Progressive Familial Intrahepatic Cholestasis:

6 (show top 50) (show all 90)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATP8B1 NM_005603.5(ATP8B1): c.923G> T (p.Gly308Val) single nucleotide variant Pathogenic rs111033609 GRCh37 Chromosome 18, 55362420: 55362420
2 ATP8B1 NM_005603.5(ATP8B1): c.923G> T (p.Gly308Val) single nucleotide variant Pathogenic rs111033609 GRCh38 Chromosome 18, 57695188: 57695188
3 ATP8B1 NM_005603.4(ATP8B1): c.2674G> A (p.Gly892Arg) single nucleotide variant Pathogenic rs121909098 GRCh37 Chromosome 18, 55328439: 55328439
4 ATP8B1 NM_005603.4(ATP8B1): c.2674G> A (p.Gly892Arg) single nucleotide variant Pathogenic rs121909098 GRCh38 Chromosome 18, 57661207: 57661207
5 ATP8B1 NM_005603.5(ATP8B1): c.863T> C (p.Leu288Ser) single nucleotide variant Pathogenic rs121909099 GRCh37 Chromosome 18, 55362480: 55362480
6 ATP8B1 NM_005603.5(ATP8B1): c.863T> C (p.Leu288Ser) single nucleotide variant Pathogenic rs121909099 GRCh38 Chromosome 18, 57695248: 57695248
7 ATP8B1 NM_005603.4(ATP8B1): c.2097+2T> C single nucleotide variant Pathogenic rs387906381 GRCh37 Chromosome 18, 55336548: 55336548
8 ATP8B1 NM_005603.4(ATP8B1): c.2097+2T> C single nucleotide variant Pathogenic rs387906381 GRCh38 Chromosome 18, 57669316: 57669316
9 ATP8B1 ATP8B1, 1.4-KB DEL deletion Pathogenic
10 ATP8B1 NM_005603.4(ATP8B1): c.1982T> C (p.Ile661Thr) single nucleotide variant Pathogenic rs121909100 GRCh37 Chromosome 18, 55336665: 55336665
11 ATP8B1 NM_005603.4(ATP8B1): c.1982T> C (p.Ile661Thr) single nucleotide variant Pathogenic rs121909100 GRCh38 Chromosome 18, 57669433: 57669433
12 ATP8B1 NM_005603.5(ATP8B1): c.1660G> A (p.Asp554Asn) single nucleotide variant Pathogenic rs121909101 GRCh37 Chromosome 18, 55342225: 55342225
13 ATP8B1 NM_005603.5(ATP8B1): c.1660G> A (p.Asp554Asn) single nucleotide variant Pathogenic rs121909101 GRCh38 Chromosome 18, 57674993: 57674993
14 ATP8B1 NM_005603.5(ATP8B1): c.208G> A (p.Asp70Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs34719006 GRCh37 Chromosome 18, 55373793: 55373793
15 ATP8B1 NM_005603.5(ATP8B1): c.208G> A (p.Asp70Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs34719006 GRCh38 Chromosome 18, 57706561: 57706561
16 ATP8B1 NM_005603.5(ATP8B1): c.1367C> T (p.Thr456Met) single nucleotide variant Pathogenic rs121909104 GRCh37 Chromosome 18, 55355593: 55355593
17 ATP8B1 NM_005603.5(ATP8B1): c.1367C> T (p.Thr456Met) single nucleotide variant Pathogenic rs121909104 GRCh38 Chromosome 18, 57688361: 57688361
18 ATP8B1 NM_005603.5(ATP8B1): c.1804C> T (p.Arg602Ter) single nucleotide variant Pathogenic rs121909105 GRCh37 Chromosome 18, 55342081: 55342081
19 ATP8B1 NM_005603.5(ATP8B1): c.1804C> T (p.Arg602Ter) single nucleotide variant Pathogenic rs121909105 GRCh38 Chromosome 18, 57674849: 57674849
20 ABCB4 NM_000443.3(ABCB4): c.959C> T (p.Ser320Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs72552778 GRCh37 Chromosome 7, 87076396: 87076396
21 ABCB4 NM_000443.3(ABCB4): c.959C> T (p.Ser320Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs72552778 GRCh38 Chromosome 7, 87447080: 87447080
22 ATP8B1 NM_005603.4(ATP8B1): c.1993G> T (p.Glu665Ter) single nucleotide variant Pathogenic rs515726137 GRCh37 Chromosome 18, 55336654: 55336654
23 ATP8B1 NM_005603.4(ATP8B1): c.1993G> T (p.Glu665Ter) single nucleotide variant Pathogenic rs515726137 GRCh38 Chromosome 18, 57669422: 57669422
24 ATP8B1 NM_005603.5(ATP8B1): c.625C> A (p.Pro209Thr) single nucleotide variant Pathogenic rs515726138 GRCh38 Chromosome 18, 57697797: 57697797
25 ATP8B1 NM_005603.5(ATP8B1): c.625C> A (p.Pro209Thr) single nucleotide variant Pathogenic rs515726138 GRCh37 Chromosome 18, 55365029: 55365029
26 ABCB4 NM_000443.3(ABCB4): c.140G> A (p.Arg47Gln) single nucleotide variant Uncertain significance rs372685632 GRCh37 Chromosome 7, 87092220: 87092220
27 ABCB4 NM_000443.3(ABCB4): c.140G> A (p.Arg47Gln) single nucleotide variant Uncertain significance rs372685632 GRCh38 Chromosome 7, 87462904: 87462904
28 ABCB4 NM_000443.3(ABCB4): c.504C> T (p.Asn168=) single nucleotide variant Benign rs1202283 GRCh37 Chromosome 7, 87082292: 87082292
29 ABCB4 NM_000443.3(ABCB4): c.504C> T (p.Asn168=) single nucleotide variant Benign rs1202283 GRCh38 Chromosome 7, 87452976: 87452976
30 NR1H4 NM_005123.3(NR1H4): c.419_420insAAA (p.Tyr139_Asn140insLys) insertion Pathogenic rs879255644 GRCh37 Chromosome 12, 100904895: 100904896
31 NR1H4 NM_005123.3(NR1H4): c.419_420insAAA (p.Tyr139_Asn140insLys) insertion Pathogenic rs879255644 GRCh38 Chromosome 12, 100511117: 100511118
32 NR1H4 NM_005123.3(NR1H4): c.526C> T (p.Arg176Ter) single nucleotide variant Pathogenic rs113090017 GRCh37 Chromosome 12, 100926316: 100926316
33 NR1H4 NM_005123.3(NR1H4): c.526C> T (p.Arg176Ter) single nucleotide variant Pathogenic rs113090017 GRCh38 Chromosome 12, 100532538: 100532538
34 NR1H4 NC_000012.11: g.100886254_100917988del31735 deletion Pathogenic GRCh37 Chromosome 12, 100886254: 100917988
35 ABCB4 NM_000443.3(ABCB4): c.1954A> G (p.Arg652Gly) single nucleotide variant Benign rs2230028 GRCh38 Chromosome 7, 87426860: 87426860
36 ABCB4 NM_000443.3(ABCB4): c.1954A> G (p.Arg652Gly) single nucleotide variant Benign rs2230028 GRCh37 Chromosome 7, 87056176: 87056176
37 ABCB4 NM_000443.3(ABCB4): c.1893+6T> C single nucleotide variant Conflicting interpretations of pathogenicity rs8187798 GRCh37 Chromosome 7, 87060714: 87060714
38 ABCB4 NM_000443.3(ABCB4): c.1893+6T> C single nucleotide variant Conflicting interpretations of pathogenicity rs8187798 GRCh38 Chromosome 7, 87431398: 87431398
39 ABCB4 NM_000443.3(ABCB4): c.711A> T (p.Ile237=) single nucleotide variant Benign/Likely benign rs2109505 GRCh37 Chromosome 7, 87079406: 87079406
40 ABCB4 NM_000443.3(ABCB4): c.711A> T (p.Ile237=) single nucleotide variant Benign/Likely benign rs2109505 GRCh38 Chromosome 7, 87450090: 87450090
41 ABCB4 NM_000443.3(ABCB4): c.459T> C (p.Phe153=) single nucleotide variant Benign/Likely benign rs2230027 GRCh37 Chromosome 7, 87082337: 87082337
42 ABCB4 NM_000443.3(ABCB4): c.459T> C (p.Phe153=) single nucleotide variant Benign/Likely benign rs2230027 GRCh38 Chromosome 7, 87453021: 87453021
43 ABCB4 NM_000443.3(ABCB4): c.175C> T (p.Leu59=) single nucleotide variant Benign rs2302387 GRCh37 Chromosome 7, 87092185: 87092185
44 ABCB4 NM_000443.3(ABCB4): c.175C> T (p.Leu59=) single nucleotide variant Benign rs2302387 GRCh38 Chromosome 7, 87462869: 87462869
45 ABCB4 NM_000443.3(ABCB4): c.147C> T (p.Ser49=) single nucleotide variant Benign/Likely benign rs8187789 GRCh37 Chromosome 7, 87092213: 87092213
46 ABCB4 NM_000443.3(ABCB4): c.147C> T (p.Ser49=) single nucleotide variant Benign/Likely benign rs8187789 GRCh38 Chromosome 7, 87462897: 87462897
47 ABCB4 NM_000443.3(ABCB4): c.-1G> A single nucleotide variant Benign/Likely benign rs45449704 GRCh37 Chromosome 7, 87104782: 87104782
48 ABCB4 NM_000443.3(ABCB4): c.-1G> A single nucleotide variant Benign/Likely benign rs45449704 GRCh38 Chromosome 7, 87475466: 87475466
49 ABCB4 NM_000443.3(ABCB4): c.3037A> C (p.Arg1013=) single nucleotide variant Conflicting interpretations of pathogenicity rs2230029 GRCh37 Chromosome 7, 87038596: 87038596
50 ABCB4 NM_000443.3(ABCB4): c.3037A> C (p.Arg1013=) single nucleotide variant Conflicting interpretations of pathogenicity rs2230029 GRCh38 Chromosome 7, 87409280: 87409280

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 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.81 ABCB1 ABCB11 ABCB4 FABP6 NR1H4 SLC10A2
2
Show member pathways
13.13 ABCB1 ABCB4 ABCC2 ATP8B1 SLCO1B1 SLCO1B3
3
Show member pathways
11.98 ABCB11 FABP6 NR1H4 SLC10A2 SLCO1B1 SLCO1B3
4
Show member pathways
11.9 ABCB1 ABCB11 ABCB4 ABCC2 SLCO1B1
5
Show member pathways
11.88 ABCB1 ABCC2 SLCO1B1
6
Show member pathways
11.7 ABCB1 ABCB11 ABCC2 SLCO1B1 SLCO1B3
7
Show member pathways
11.57 ABCB1 SLCO1B1 SLCO1B3
8
Show member pathways
11.41 ABCB1 ABCC2 SLCO1B1
9
Show member pathways
11.4 ABCB1 ABCC2
10
Show member pathways
11.31 ABCB1 ABCC2 SLCO1B1 SLCO1B3
11
Show member pathways
11.19 ABCB1 ABCC2
12 11.1 ABCB1 ABCB11 ABCB4 ABCC2 NR1H4
13 11.09 ABCB1 ABCC2
14 11.08 ABCB1 ABCB11 ABCB4 ABCC2 NR1H4 SLC10A2
15 10.93 ABCB1 ABCC2
16 10.93 ABCB11 ABCB4 NR1H4
17
Show member pathways
10.92 ABCB1 ABCC2 SLCO1B1 SLCO1B3
18 10.81 ABCB1 ABCC2
19 10.75 ABCB1 ABCC2 SLCO1B3
20 10.58 ABCB1 ABCB11 ABCC2 NR1H4 SLCO1B1
21 10.54 ABCB1 ABCC2

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 9.91 ABCB1 ABCB11 ABCB4 ABCC2 ATP8B1 SLC10A2
2 integral component of plasma membrane GO:0005887 9.7 ABCB11 ABCB4 ABCC2 ATP8B1 SLC10A2 SLCO1B1
3 brush border membrane GO:0031526 9.37 ABCC2 ATP8B1
4 apical plasma membrane GO:0016324 9.35 ABCB1 ABCB4 ABCC2 ATP8B1 SLC10A2
5 intercellular canaliculus GO:0046581 8.8 ABCB11 ABCB4 ABCC2
6 membrane GO:0016020 10.02 ABCB1 ABCB11 ABCB4 ABCC2 ATP8B1 FABP6

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.71 ABCB1 ABCB4 ABCC2
2 transmembrane transport GO:0055085 9.7 ABCB1 ABCB11 ABCB4 ABCC2 SLC10A2 SLCO1B1
3 lipid transport GO:0006869 9.67 ABCB4 ATP8B1 FABP6
4 lipid homeostasis GO:0055088 9.52 ABCB4 NR1H4
5 sodium-independent organic anion transport GO:0043252 9.51 SLCO1B1 SLCO1B3
6 bile acid metabolic process GO:0008206 9.48 ATP8B1 NR1H4
7 organic anion transport GO:0015711 9.46 SLCO1B1 SLCO1B3
8 thyroid hormone transport GO:0070327 9.43 ABCC2 SLCO1B1
9 phospholipid translocation GO:0045332 9.43 ABCB1 ABCB4 ATP8B1
10 xenobiotic transport GO:0042908 9.4 ABCB1 ABCB4
11 canalicular bile acid transport GO:0015722 9.37 ABCB11 ABCC2
12 ceramide translocation GO:0099040 9.32 ABCB1 ABCB4
13 drug transmembrane transport GO:0006855 9.26 ABCB1 ABCB4 ABCC2 ATP8B1
14 bile acid and bile salt transport GO:0015721 9.1 ABCB11 ATP8B1 NR1H4 SLC10A2 SLCO1B1 SLCO1B3

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 9.88 ABCB1 ABCB11 ABCB4 ABCC2 ATP8B1
2 ATPase activity GO:0016887 9.56 ABCB1 ABCB11 ABCB4 ABCC2
3 sodium-independent organic anion transmembrane transporter activity GO:0015347 9.46 SLCO1B1 SLCO1B3
4 bile acid transmembrane transporter activity GO:0015125 9.43 SLCO1B1 SLCO1B3
5 organic anion transmembrane transporter activity GO:0008514 9.4 ABCC2 SLCO1B3
6 bile acid binding GO:0032052 9.37 FABP6 NR1H4
7 xenobiotic transmembrane transporting ATPase activity GO:0008559 9.32 ABCB1 ABCB4
8 phosphatidylcholine-translocating ATPase activity GO:0090554 9.16 ABCB1 ABCB4
9 ceramide-translocating ATPase activity GO:0099038 8.96 ABCB1 ABCB4
10 ATPase activity, coupled to transmembrane movement of substances GO:0042626 8.92 ABCB1 ABCB11 ABCB4 ABCC2

Sources for Progressive Familial Intrahepatic Cholestasis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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