PFIC
MCID: PRG047
MIFTS: 56

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 26 60 38 15
Abcb4-Related Intrahepatic Cholestasis 26 6
Cholestasis, Intrahepatic, Familial, Progressive 41
Cholestasis, Progressive Familial Intrahepatic 77
Abcb11-Related Intrahepatic Cholestasis 26
Atp8b1-Related Intrahepatic Cholestasis 26
Pfic; Byler Disease 12
Mdr3 Deficiency 26
Bsep Deficiency 26
Fic1 Deficiency 26
Byler Syndrome 26
Byler Disease 26
Pfic 60

Characteristics:

Orphanet epidemiological data:

60
progressive familial intrahepatic cholestasis
Inheritance: Autosomal recessive; Age of onset: Adolescent,Childhood,Infancy,Neonatal;

Classifications:



External Ids:

Disease Ontology 12 DOID:0070221
KEGG 38 H00624
ICD10 via Orphanet 35 K76.8
UMLS via Orphanet 75 C0268312
Orphanet 60 ORPHA172
UMLS 74 C0268312

Summaries for Progressive Familial Intrahepatic Cholestasis

Genetics Home Reference : 26 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 ABCB11 (ATP Binding Cassette Subfamily B Member 11), and among its related pathways/superpathways are Bile secretion and Cholesterol metabolism. The drugs Pharmaceutical Solutions and Bile Acids and Salts 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 : 77 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 42)
# Related Disease Score Top Affiliating Genes
1 cholestasis, progressive familial intrahepatic, 3 33.8 ABCB11 ABCB4 ATP8B1
2 cholestasis, progressive familial intrahepatic, 2 33.3 ABCB11 ABCB4 ATP8B1 NR1H4
3 cholestasis, progressive familial intrahepatic, 4 33.0 ABCB11 ABCB4 ATP8B1 TJP2
4 cholestasis, progressive familial intrahepatic, 1 32.8 ABCB11 ABCB4 ATP8B1 NR1H4 SLC10A2
5 atp8b1 deficiency 31.7 ABCB11 ATP8B1 NR1H4
6 alagille syndrome 1 30.4 ABCB11 ABCB4 ATP8B1
7 cholestasis, benign recurrent intrahepatic, 1 30.3 ABCB11 ATP8B1 SLC10A2
8 cholestasis 30.1 ABCB11 ABCB4 ABCC2 ATP8B1 NR1H4 SLC10A2
9 liver disease 29.9 ABCB11 ABCB4 ATP8B1 NR1H4
10 cholelithiasis 29.7 ABCB4 NR1H4
11 intrahepatic cholestasis of pregnancy 28.5 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 12.0
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 cholangitis 10.1 ABCB11 ABCB4
20 protein-losing enteropathy 10.1
21 cholestasis, benign recurrent intrahepatic, 2 10.0 ABCB11 ATP8B1
22 hepatocellular carcinoma 10.0
23 gallbladder disease 1 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 colchicine resistance 10.0 ABCB1 ABCB11
32 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
33 sensorineural hearing loss 10.0
34 osteomalacia 10.0
35 cholecystitis 10.0
36 familial mediterranean fever 10.0
37 goiter 10.0
38 sclerosing cholangitis 9.9 ABCB11 ABCB4 NR1H4
39 extrahepatic cholestasis 9.9 ABCB4 ABCC2
40 biliary atresia 9.7 ATP8B1 NR1H4 SLC10A2
41 bile duct disease 9.1 ABCB11 ABCB4 ABCC2 ATP8B1 NR1H4 SLC10A2
42 biliary tract disease 9.1 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:

60 33 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
2 splenomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001744
3 hepatomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0002240
4 malabsorption 60 33 hallmark (90%) Very frequent (99-80%) HP:0002024
5 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
6 cognitive impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0100543
7 jaundice 60 33 hallmark (90%) Very frequent (99-80%) HP:0000952
8 abnormality of coagulation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001928
9 delayed skeletal maturation 60 33 frequent (33%) Frequent (79-30%) HP:0002750
10 reduced bone mineral density 60 33 frequent (33%) Frequent (79-30%) HP:0004349
11 hypocalcemia 60 33 frequent (33%) Frequent (79-30%) HP:0002901
12 abnormal thrombocyte morphology 33 frequent (33%) HP:0001872
13 neoplasm 60 33 occasional (7.5%) Occasional (29-5%) HP:0002664
14 abnormality of thrombocytes 60 Frequent (79-30%)
15 cholestasis 60 Very frequent (99-80%)

MGI Mouse Phenotypes related to Progressive Familial Intrahepatic Cholestasis:

47
# 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 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 3
2 Bile Acids and Salts Phase 2,Not Applicable
3 Liver Extracts Phase 2
4 Hypolipidemic Agents Phase 1
5 Lipid Regulating Agents Phase 1
6 Anticholesteremic Agents Phase 1
7 Cola Phase 1
8 Cholestyramine Resin Phase 1
9 Antimetabolites Phase 1
10
Glycerol Approved, Investigational 56-81-5 753
11
Pancrelipase Approved, Investigational 53608-75-6
12
Iron Approved, Experimental 7439-89-6, 15438-31-0 23925 27284
13 Protective Agents
14 4-phenylbutyric acid
15 Alpha 1-Antitrypsin
16 Protein C Inhibitor
17 Estrogens
18 pancreatin
19 Gastrointestinal Agents ,Not Applicable
20
Bilirubin 635-65-4, 69853-43-6 5280352 21252250
21 Hematinics
22 Lecithin Not Applicable

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 A Placebo-controlled Study of Maralixibat (SHP625) in Pediatric Subjects With Progressive Familial Intrahepatic Cholestasis (PFIC) Withdrawn NCT03353454 Phase 3 Maralixibat;Placebo
2 This Study Will Investigate the Efficacy and Safety of A4250 in Children With PFIC 1 or 2 Recruiting NCT03566238 Phase 3 A4250;Placebo
3 Long Term Safety & Efficacy Study Evaluating The Effect of A4250 in Children With PFIC Types 1 & 2 Recruiting NCT03659916 Phase 3 A4250
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 Expanded Access Protocol for an Intermediate Size Population - RAVICTI for Byler Disease No longer available NCT02094222 RAVICTI
8 Buphenyl Therapy for Byler's Disease No longer available NCT01784718 Buphenyl
9 Transition From Buphenyl to RAVICTI for the Therapy of Byler Disease No longer available NCT01949766 Glycerol phenylbutyrate
10 Validation of the Itch Reported Outcome (ItchRO) Diaries in Pediatric Cholestatic Liver Disease Completed NCT02131623
11 Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC) Recruiting NCT00571272
12 ABCB4 Gene Mutations in Intrahepatic Cholestasis of Pregnancy and Controls Completed NCT00700232
13 Shear Wave Sonoelastography in Pediatric Liver Fibrosis Completed NCT02372682
14 Sulfation of Bile Acids as a Biomarker for Hepatobiliary Diseases Recruiting NCT01200082
15 China Registry for Genetic / Metabolic Liver Diseases Recruiting NCT03131427 Standard of care
16 Intralumenal Effects on Cholesterol Absorption/Synthesis Completed NCT00328211 Not Applicable Pluronic F-68

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:

42
Liver, Bone, Testes, Small Intestine, Appendix

Publications for Progressive Familial Intrahepatic Cholestasis

Articles related to Progressive Familial Intrahepatic Cholestasis:

(show top 50) (show all 196)
# Title Authors Year
1
Two Cases of Progressive Familial Intrahepatic Cholestasis Type 2: Role of Surgery with Brief Review of Literature. ( 30686894 )
2019
2
Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis. ( 29973134 )
2018
3
Long-term outcome after cholecystocolostomy for progressive familial intrahepatic cholestasis. ( 29934967 )
2018
4
Xenobiotic Nuclear Receptor Signaling Determines Molecular Pathogenesis of Progressive Familial Intrahepatic Cholestasis. ( 29718219 )
2018
5
Histological changes of the intestinal mucosa in complications following a living donor liver transplantation for progressive familial intrahepatic cholestasis type 1. ( 29935008 )
2018
6
Quality of Life in Patients With Progressive Familial Intrahepatic Cholestasis: No Difference Between Post-liver Transplantation and Post-partial External Biliary Diversion. ( 30052569 )
2018
7
Systematic review of progressive familial intrahepatic cholestasis. ( 30236549 )
2018
8
Progressive familial intrahepatic cholestasis: diagnosis, management, and treatment. ( 30237746 )
2018
9
Liver Transplantation for Progressive Familial Intrahepatic Cholestasis. ( 30250015 )
2018
10
Progressive Familial Intrahepatic Cholestasis. ( 30266155 )
2018
11
Surgical treatment for intractable pruritus in progressive familial intrahepatic cholestasis. ( 30323368 )
2018
12
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
13
Alloimmunity and Cholestasis after Liver Transplantation in Children with Progressive Familial Intrahepatic Cholestasis. ( 30664572 )
2018
14
Nuclear receptor FXR, bile acids and liver damage: Introducing the progressive familial intrahepatic cholestasis with FXR mutations. ( 28965883 )
2018
15
Cholestasis After Pediatric Liver Transplantation-Recurrence of a Progressive Familial Intrahepatic Cholestasis Phenotype as a Rare Differential Diagnosis: A Case Report. ( 28838453 )
2017
16
Balancing Medical and Non-Accidental Causes of Multiple Fractures in a Child with Progressive Familial Intrahepatic Cholestasis. ( 29118315 )
2017
17
A Rare BSEP Mutation Associated with a Mild Form of Progressive Familial Intrahepatic Cholestasis Type 2. ( 28425419 )
2017
18
Outcomes following partial external biliary diversion in patients with progressive familial intrahepatic cholestasis. ( 27916445 )
2017
19
Long-term outcomes of six patients after partial internal biliary diversion for progressive familial intrahepatic cholestasis. ( 29174177 )
2017
20
Liver transplantation for decompensated liver cirrhosis caused by progressive familial intrahepatic cholestasis type 3: A case report. ( 29390323 )
2017
21
Living Donor Liver Transplantation for Progressive Familial Intrahepatic Cholestasis Type 1: Two Reported Cases. ( 28583540 )
2017
22
Progressive Familial Intrahepatic Cholestasis Type 2 in an Indian Child. ( 28497004 )
2017
23
Progressive familial intrahepatic cholestasis: A comprehensive review of a challenging liver disease. ( 28195083 )
2017
24
A Hepatic immunohistochemistry of bile transporters in progressive familial intrahepatic cholestasis. ( 26845599 )
2016
25
Molecular characterization of exons 6, 8 and 9 of ABCB4 gene in children with Progressive Familial Intrahepatic Cholestasis type 3. ( 27075526 )
2016
26
Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. ( 26888176 )
2016
27
A Novel Mutation of ABCB4 in Progressive Familial Intrahepatic Cholestasis 3: Like Mother, Like Daughter. ( 26796082 )
2016
28
Total internal biliary diversion during liver transplantation for type 1 progressive familial intrahepatic cholestasis: a novel approach. ( 27534385 )
2016
29
Cross-Sectional Analysis of Progressive Familial Intrahepatic Cholestasis in Puerto Rican Children. ( 27898169 )
2016
30
Clinical and ABCB11 profiles in Korean infants with progressive familial intrahepatic cholestasis. ( 27239116 )
2016
31
Functional characterization of ABCB4 mutations found in progressive familial intrahepatic cholestasis type 3. ( 27256251 )
2016
32
Liver transplantation and the management of progressive familial intrahepatic cholestasis in children. ( 27358773 )
2016
33
Influence of Partial External Biliary Diversion on the Lipid Profile in Children With Progressive Familial Intrahepatic Cholestasis. ( 27875503 )
2016
34
A Novel Truncation Mutation in ATP8B1 Gene in Progressive Familial Intrahepatic Cholestasis. ( 28064265 )
2016
35
Recurrence of Progressive Familial Intrahepatic Cholestasis Type 2 Phenotype After Living-donor Liver Transplantation: A Case Report. ( 27932171 )
2016
36
Progressive Familial Intrahepatic Cholestasis (PFIC) in Indian Children: Clinical Spectrum and Outcome. ( 27746616 )
2016
37
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
38
Presentation of Progressive Familial Intrahepatic Cholestasis Type 3 Mimicking Wilson Disease: Molecular Genetic Diagnosis and Response to Treatment. ( 26473142 )
2015
39
Progressive Familial Intrahepatic Cholestasis: A Rare Cause of Cirrhosis in Young Adult Patients. ( 26136783 )
2015
40
Novel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3. ( 25593501 )
2015
41
A functional classification of ABCB4 variations causing progressive familial intrahepatic cholestasis type 3. ( 26474921 )
2015
42
Successful pregnancy after ileal exclusion in progressive familial intrahepatic cholestasis type 2. ( 26019043 )
2015
43
Different techniques for biliary diversion in progressive familial intrahepatic cholestasis. ( 26382286 )
2015
44
Targeted pharmacotherapy in progressive familial intrahepatic cholestasis type 2: Evidence for improvement of cholestasis with 4-phenylbutyrate. ( 25716872 )
2015
45
Retargeting of bile salt export pump and favorable outcome in children with progressive familial intrahepatic cholestasis Type 2. ( 25847299 )
2015
46
Late-Onset Drug-Induced Cholestasis in a Living-Related Liver Transplant Donor With Progressive Familial Intrahepatic Cholestasis. ( 26640927 )
2015
47
Brucella infection in a child with progressive familial intrahepatic cholestasis type 2 who had undergone liver transplantation. ( 26148181 )
2015
48
Total biliary diversion as a treatment option for patients with progressive familial intrahepatic cholestasis and Alagille syndrome. ( 26319776 )
2015
49
Functional analysis of ABCB4 mutations relates clinical outcomes of progressive familial intrahepatic cholestasis type 3 to the degree of MDR3 floppase activity. ( 24594635 )
2014
50
Complications following liver transplantation for progressive familial intrahepatic cholestasis. ( 24879297 )
2014

Variations for Progressive Familial Intrahepatic Cholestasis

ClinVar genetic disease variations for Progressive Familial Intrahepatic Cholestasis:

6 (show top 50) (show all 308)
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCB11 NM_003742.4(ABCB11): c.957A> G (p.Gly319=) single nucleotide variant Benign rs7563233 GRCh37 Chromosome 2, 169842746: 169842746
2 ABCB11 NM_003742.4(ABCB11): c.957A> G (p.Gly319=) single nucleotide variant Benign rs7563233 GRCh38 Chromosome 2, 168986236: 168986236
3 ABCB11 NM_003742.4(ABCB11): c.1331T> C (p.Val444Ala) single nucleotide variant Benign rs2287622 GRCh37 Chromosome 2, 169830328: 169830328
4 ABCB11 NM_003742.4(ABCB11): c.1331T> C (p.Val444Ala) single nucleotide variant Benign rs2287622 GRCh38 Chromosome 2, 168973818: 168973818
5 ABCB11 NM_003742.4(ABCB11): c.1791G> T (p.Val597=) single nucleotide variant Benign/Likely benign rs11568371 GRCh37 Chromosome 2, 169826573: 169826573
6 ABCB11 NM_003742.4(ABCB11): c.1791G> T (p.Val597=) single nucleotide variant Benign/Likely benign rs11568371 GRCh38 Chromosome 2, 168970063: 168970063
7 ABCB11 NM_003742.4(ABCB11): c.1772A> G (p.Asn591Ser) single nucleotide variant Benign/Likely benign rs11568367 GRCh37 Chromosome 2, 169826592: 169826592
8 ABCB11 NM_003742.4(ABCB11): c.1772A> G (p.Asn591Ser) single nucleotide variant Benign/Likely benign rs11568367 GRCh38 Chromosome 2, 168970082: 168970082
9 ATP8B1 NM_005603.6(ATP8B1): c.150A> G (p.Glu50=) single nucleotide variant Conflicting interpretations of pathogenicity rs137973298 GRCh37 Chromosome 18, 55398890: 55398890
10 ATP8B1 NM_005603.6(ATP8B1): c.150A> G (p.Glu50=) single nucleotide variant Conflicting interpretations of pathogenicity rs137973298 GRCh38 Chromosome 18, 57731658: 57731658
11 ABCB11 NM_003742.4(ABCB11): c.2943C> T (p.Tyr981=) single nucleotide variant Conflicting interpretations of pathogenicity rs145720664 GRCh37 Chromosome 2, 169791807: 169791807
12 ABCB11 NM_003742.4(ABCB11): c.2943C> T (p.Tyr981=) single nucleotide variant Conflicting interpretations of pathogenicity rs145720664 GRCh38 Chromosome 2, 168935297: 168935297
13 ABCB4 NM_000443.3(ABCB4): c.140G> A (p.Arg47Gln) single nucleotide variant Uncertain significance rs372685632 GRCh37 Chromosome 7, 87092220: 87092220
14 ABCB4 NM_000443.3(ABCB4): c.140G> A (p.Arg47Gln) single nucleotide variant Uncertain significance rs372685632 GRCh38 Chromosome 7, 87462904: 87462904
15 ABCB4 NM_000443.3(ABCB4): c.504C> T (p.Asn168=) single nucleotide variant Benign rs1202283 GRCh37 Chromosome 7, 87082292: 87082292
16 ABCB4 NM_000443.3(ABCB4): c.504C> T (p.Asn168=) single nucleotide variant Benign rs1202283 GRCh38 Chromosome 7, 87452976: 87452976
17 ABCB11 NM_003742.4(ABCB11): c.890A> G (p.Glu297Gly) single nucleotide variant Pathogenic rs11568372 GRCh37 Chromosome 2, 169847329: 169847329
18 ABCB11 NM_003742.4(ABCB11): c.890A> G (p.Glu297Gly) single nucleotide variant Pathogenic rs11568372 GRCh38 Chromosome 2, 168990819: 168990819
19 ABCB4 NM_000443.3(ABCB4): c.959C> T (p.Ser320Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs72552778 GRCh37 Chromosome 7, 87076396: 87076396
20 ABCB4 NM_000443.3(ABCB4): c.959C> T (p.Ser320Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs72552778 GRCh38 Chromosome 7, 87447080: 87447080
21 ABCB11 NM_003742.4(ABCB11): c.3258A> G (p.Thr1086=) single nucleotide variant Benign/Likely benign rs11568359 GRCh37 Chromosome 2, 169787328: 169787328
22 ABCB11 NM_003742.4(ABCB11): c.3258A> G (p.Thr1086=) single nucleotide variant Benign/Likely benign rs11568359 GRCh38 Chromosome 2, 168930818: 168930818
23 ABCB11 NM_003742.4(ABCB11): c.3084A> G (p.Ala1028=) single nucleotide variant Benign rs497692 GRCh37 Chromosome 2, 169789016: 169789016
24 ABCB11 NM_003742.4(ABCB11): c.3084A> G (p.Ala1028=) single nucleotide variant Benign rs497692 GRCh38 Chromosome 2, 168932506: 168932506
25 ABCB11 NM_003742.4(ABCB11): c.2412A> G (p.Ala804=) single nucleotide variant Benign/Likely benign rs11568373 GRCh38 Chromosome 2, 168944893: 168944893
26 ABCB11 NM_003742.4(ABCB11): c.2412A> G (p.Ala804=) single nucleotide variant Benign/Likely benign rs11568373 GRCh37 Chromosome 2, 169801403: 169801403
27 ABCB11 NM_003742.4(ABCB11): c.2029A> G (p.Met677Val) single nucleotide variant Benign/Likely benign rs11568364 GRCh38 Chromosome 2, 168968473: 168968473
28 ABCB11 NM_003742.4(ABCB11): c.2029A> G (p.Met677Val) single nucleotide variant Benign/Likely benign rs11568364 GRCh37 Chromosome 2, 169824983: 169824983
29 ABCB11 NM_003742.4(ABCB11): c.1185G> A (p.Glu395=) single nucleotide variant Benign/Likely benign rs57509552 GRCh38 Chromosome 2, 168979878: 168979878
30 ABCB11 NM_003742.4(ABCB11): c.1185G> A (p.Glu395=) single nucleotide variant Benign/Likely benign rs57509552 GRCh37 Chromosome 2, 169836388: 169836388
31 ABCB11 NM_003742.4(ABCB11): c.909-15A> G single nucleotide variant Benign rs2287618 GRCh37 Chromosome 2, 169842809: 169842809
32 ABCB11 NM_003742.4(ABCB11): c.909-15A> G single nucleotide variant Benign rs2287618 GRCh38 Chromosome 2, 168986299: 168986299
33 ABCB11 NM_003742.4(ABCB11): c.807T> C (p.Tyr269=) single nucleotide variant Benign rs2287616 GRCh38 Chromosome 2, 168990902: 168990902
34 ABCB11 NM_003742.4(ABCB11): c.807T> C (p.Tyr269=) single nucleotide variant Benign rs2287616 GRCh37 Chromosome 2, 169847412: 169847412
35 ABCB11 NM_003742.4(ABCB11): c.402C> T (p.Ile134=) single nucleotide variant Benign/Likely benign rs11568377 GRCh37 Chromosome 2, 169853220: 169853220
36 ABCB11 NM_003742.4(ABCB11): c.402C> T (p.Ile134=) single nucleotide variant Benign/Likely benign rs11568377 GRCh38 Chromosome 2, 168996710: 168996710
37 ABCB11 NM_003742.4(ABCB11): c.389+8G> A single nucleotide variant Benign/Likely benign rs11568363 GRCh37 Chromosome 2, 169869774: 169869774
38 ABCB11 NM_003742.4(ABCB11): c.389+8G> A single nucleotide variant Benign/Likely benign rs11568363 GRCh38 Chromosome 2, 169013264: 169013264
39 ABCB11 NM_003742.4(ABCB11): c.270T> C (p.Phe90=) single nucleotide variant Benign/Likely benign rs4148777 GRCh37 Chromosome 2, 169869901: 169869901
40 ABCB11 NM_003742.4(ABCB11): c.270T> C (p.Phe90=) single nucleotide variant Benign/Likely benign rs4148777 GRCh38 Chromosome 2, 169013391: 169013391
41 ABCB11 NM_003742.4(ABCB11): c.108T> C (p.Asp36=) single nucleotide variant Benign rs3815675 GRCh38 Chromosome 2, 169014345: 169014345
42 ABCB11 NM_003742.4(ABCB11): c.108T> C (p.Asp36=) single nucleotide variant Benign rs3815675 GRCh37 Chromosome 2, 169870855: 169870855
43 ABCB4 NM_000443.3(ABCB4): c.1954A> G (p.Arg652Gly) single nucleotide variant Benign rs2230028 GRCh38 Chromosome 7, 87426860: 87426860
44 ABCB4 NM_000443.3(ABCB4): c.1954A> G (p.Arg652Gly) single nucleotide variant Benign rs2230028 GRCh37 Chromosome 7, 87056176: 87056176
45 ABCB4 NM_000443.3(ABCB4): c.1893+6T> C single nucleotide variant Conflicting interpretations of pathogenicity rs8187798 GRCh37 Chromosome 7, 87060714: 87060714
46 ABCB4 NM_000443.3(ABCB4): c.1893+6T> C single nucleotide variant Conflicting interpretations of pathogenicity rs8187798 GRCh38 Chromosome 7, 87431398: 87431398
47 ABCB4 NM_000443.3(ABCB4): c.711A> T (p.Ile237=) single nucleotide variant Benign/Likely benign rs2109505 GRCh37 Chromosome 7, 87079406: 87079406
48 ABCB4 NM_000443.3(ABCB4): c.711A> T (p.Ile237=) single nucleotide variant Benign/Likely benign rs2109505 GRCh38 Chromosome 7, 87450090: 87450090
49 ABCB4 NM_000443.3(ABCB4): c.459T> C (p.Phe153=) single nucleotide variant Benign/Likely benign rs2230027 GRCh37 Chromosome 7, 87082337: 87082337
50 ABCB4 NM_000443.3(ABCB4): c.459T> C (p.Phe153=) single nucleotide variant Benign/Likely benign rs2230027 GRCh38 Chromosome 7, 87453021: 87453021

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:

38
# 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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.91 ABCB11 FABP6 NR1H4 SLC10A2
2
Show member pathways
11.72 ABCB1 ABCB11 ABCB4 ABCC2
3
Show member pathways
11.64 ABCB1 ABCB11 ABCC2
4
Show member pathways
11.36 ABCB1 ABCC2
5
Show member pathways
11.3 ABCB1 ABCC2
6
Show member pathways
11.14 ABCB1 ABCC2
7 11.03 ABCB1 ABCC2
8 10.96 ABCB1 ABCB11 ABCB4 ABCC2 NR1H4 SLC10A2
9 10.9 ABCB1 ABCB11 ABCB4 ABCC2 NR1H4
10 10.87 ABCB1 ABCC2
11
Show member pathways
10.8 ABCB1 ABCC2
12 10.73 ABCB1 ABCC2
13 10.71 ABCB11 ABCB4 NR1H4
14 10.69 ABCB1 ABCB11 ABCC2 NR1H4
15 10.57 ABCB1 ABCC2
16 10.43 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 9.87 ABCB1 ABCB11 ABCB4 ABCC2 ATP8B1 SLC10A2
2 integral component of plasma membrane GO:0005887 9.55 ABCB11 ABCB4 ABCC2 ATP8B1 SLC10A2
3 apical plasma membrane GO:0016324 9.35 ABCB1 ABCB4 ABCC2 ATP8B1 SLC10A2
4 brush border membrane GO:0031526 9.26 ABCC2 ATP8B1
5 intercellular canaliculus GO:0046581 8.8 ABCB11 ABCB4 ABCC2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.72 ABCB1 ABCB11 ABCB4 ABCC2 SLC10A2
2 response to drug GO:0042493 9.67 ABCB1 ABCB4 ABCC2
3 lipid transport GO:0006869 9.63 ABCB4 ATP8B1 FABP6
4 lipid homeostasis GO:0055088 9.48 ABCB4 NR1H4
5 bile acid metabolic process GO:0008206 9.43 ATP8B1 NR1H4
6 canalicular bile acid transport GO:0015722 9.37 ABCB11 ABCC2
7 phospholipid translocation GO:0045332 9.33 ABCB1 ABCB4 ATP8B1
8 ceramide translocation GO:0099040 9.26 ABCB1 ABCB4
9 bile acid and bile salt transport GO:0015721 9.26 ABCB11 ATP8B1 NR1H4 SLC10A2
10 xenobiotic transport GO:0042908 9.1 ABCB1
11 drug transmembrane transport GO:0006855 8.8 ABCB1 ABCC2 ATP8B1

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 ABCB1 ABCB11 ABCB4 ABCC2 ATP8B1
2 ATPase activity GO:0016887 9.56 ABCB1 ABCB11 ABCB4 ABCC2
3 bile acid binding GO:0032052 9.37 FABP6 NR1H4
4 phosphatidylcholine-translocating ATPase activity GO:0090554 9.16 ABCB1 ABCB4
5 xenobiotic transmembrane transporting ATPase activity GO:0008559 9.02 ABCB1
6 ceramide-translocating ATPase activity GO:0099038 8.96 ABCB1 ABCB4
7 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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