MCID: CHL080
MIFTS: 46

Cholestasis, Progressive Familial Intrahepatic 1

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

Aliases & Classifications for Cholestasis, Progressive Familial Intrahepatic 1

MalaCards integrated aliases for Cholestasis, Progressive Familial Intrahepatic 1:

Name: Cholestasis, Progressive Familial Intrahepatic 1 54 13
Byler Disease 50 24 25 56 71 52
Pfic1 50 24 56 71
Progressive Familial Intrahepatic Cholestasis 50 25 56
Fic1 Deficiency 24 25 56
Byler Syndrome 24 25
Progressive Familial Intrahepatic Cholestasis, Type 1 24
Progressive Familial Intrahepatic Cholestasis Type 1 56
Cholestasis, Progressive Familial Intrahepatic, 1 71
Cholestasis, Progressive Familial Intrahepatic 3 69
Progressive Familial Intrahepatic Cholestasis 1 50
Familial Intraheparic Cholestasis 1 Deficiency 24
Low Γ-Gt Familial Intrahepatic Cholestasis 25
Abcb11-Related Intrahepatic Cholestasis 25
Atp8b1-Related Intrahepatic Cholestasis 25
Abcb4-Related Intrahepatic Cholestasis 25
Progressive Intrahepatic Cholestasis 69
Cholestasis, Fatal Intrahepatic 50
Greenland Childhood Cholestasis 24
Greenland Familial Cholestasis 24
Fatal Intrahepatic Cholestasis 71
Severe Atp8b1 Deficiency 50
Byler's Disease 50
Mdr3 Deficiency 25
Bsep Deficiency 25
Pfic-1 24
Pfic 56

Characteristics:

Orphanet epidemiological data:

56
progressive familial intrahepatic cholestasis
Inheritance: Autosomal recessive; Age of onset: Adolescent,Childhood,Infancy,Neonatal;
progressive familial intrahepatic cholestasis type 1
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy
caused by a defect in bile acid transport
genetic heterogeneity, see also pfic2 , pfic3
allelic disorder to benign recurrent intrahepatic cholestasis (bric1, )
allelic disorder to intrahepatic cholestasis of pregnancy (icp, )


HPO:

32
cholestasis, progressive familial intrahepatic 1:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cholestasis, Progressive Familial Intrahepatic 1

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 79306disease definitionpfic1, a type of progressive familial intrahepathic cholestasis (pfic, see this term), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features.epidemiologyestimated prevalence at birth of pfic types 1-3 varies between 1/50,000 and 1/100,000 births. pfic1 is the less frequent type of pfic.clinical descriptionits onset occurs mostly during infancy. clinical signs of cholestasis (discolored stools, dark urine) usually appear in the first months of life with recurrent or permanent jaundice associated with hepatomegaly and severe pruritus. patients usually develop fibrosis and end-stage liver disease before adulthood. extrahepatic features have been reported including persistent short stature, watery diarrhea, pancreatitis and sensorineural deafness.etiologypfic1 is due to mutations in the atp8b1 gene (18q21-22) encoding the fic1 protein expressed at the canalicular membrane of hepatocytes as well as in other epithelia. in hepatocytes, abnormal protein might indirectly disrupt biliary bile acid secretion, explaining the low biliary bile acid concentration found in pfic1 patients. extrahepatic features of the disease are probably related to the extrahepatic expression of fic1.diagnostic methodspfic1 should be suspected in children with a clinical history of cholestasis of unknown origin after exclusion of the other main causes of cholestasis presenting with normal serum gamma-gt activity and high serum bile acid concentration. usually, serum alpha-fetoprotein level is normal and alanine aminotransferase values are below five times the upper limit of normal. liver ultrasonography is usually normal but may reveal a huge gallbladder. liver histology reveals canalicular cholestasis and the absence of true ductular proliferation with only periportal biliary metaplasia of hepatocytes. when performed, cholangiography shows a normal biliary tree and allows bile collection. biliary lipid analysis reveals mildly decreased biliary bile salt concentration. genotyping confirms the diagnosis.differential diagnosisin the scope of cholestasis with normal gamma-gt, differential diagnosis includes mainly primary bile acid synthesis defects and pfic2 (see these terms).antenatal diagnosisprenatal diagnosis can be proposed if a mutation has been identified in each parent.genetic counselingtransmission is autosomal recessive.management and treatmentursodeoxycholic acid therapy (udca) should be initiated in all patients to prevent liver damage but is not fully effective. rifampicin is helpful to control pruritus. nasobiliary drainage may help to select potential responders to biliary diversion. however, because of severe cholestasis, half of patients are ultimately candidates for liver transplantation (lt). diarrhea often worsens after lt and might be favorably managed by bile adsorptive resin treatment. lt does not prevent extrahepatic progression of the disease, and does not lead to catch-up growth. furthermore, severe steatohepatitis of the liver graft has been reported. specialized follow-up is mandatory lifelong. fic1 defect predisposes to development of intrahepatic cholestasis of pregnancy (see this term).visit the orphanet disease page for more resources. last updated: 5/1/2011

MalaCards based summary : Cholestasis, Progressive Familial Intrahepatic 1, also known as byler disease, is related to cholestasis, benign recurrent intrahepatic and abcb11-related intrahepatic cholestasis, and has symptoms including short stature, failure to thrive and cognitive impairment. An important gene associated with Cholestasis, Progressive Familial Intrahepatic 1 is ATP8B1 (ATPase Phospholipid Transporting 8B1), and among its related pathways/superpathways are Synthesis of bile acids and bile salts and Nuclear Receptors in Lipid Metabolism and Toxicity. The drugs Liver Extracts and Bile Acids and Salts have been mentioned in the context of this disorder. Affiliated tissues include liver and bone, and related phenotypes are Decreased vaccinia virus (VACV-LREV ) gene expression and growth/size/body region

UniProtKB/Swiss-Prot : 71 Cholestasis, progressive familial intrahepatic, 1: A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood.

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.

OMIM : 54
Progressive familial intrahepatic cholestasis is a heterogeneous group of autosomal recessive liver disorders characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood (Alonso et al., 1994; Whitington et al., 1994; Klomp et al., 2004). (211600)

Wikipedia : 72 Progressive familial intrahepatic cholestasis (PFIC) is a group of familial cholestatic conditions... more...

Related Diseases for Cholestasis, Progressive Familial Intrahepatic 1

Diseases in the Intrahepatic Cholestasis family:

Cholestasis, Progressive Familial Intrahepatic 2 Cholestasis, Benign Recurrent Intrahepatic, 2
Cholestasis, Progressive Familial Intrahepatic 3 Cholestasis, Progressive Familial Intrahepatic 4
Cholestasis, Progressive Familial Intrahepatic, 5 Cholestasis, Progressive Familial Intrahepatic 1
Cholestasis, Benign Recurrent Intrahepatic Abcb11-Related Intrahepatic Cholestasis
Atp8b1-Related Intrahepatic Cholestasis Myo5b-Related Progressive Familial Intrahepatic Cholestasis

Diseases related to Cholestasis, Progressive Familial Intrahepatic 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 33, show less)
id Related Disease Score Top Affiliating Genes
1 cholestasis, benign recurrent intrahepatic 27.4 ABCB11 ABCB4 ATP8B1 GGT1 JAG1 MYO5B
2 abcb11-related intrahepatic cholestasis 12.2
3 atp8b1-related intrahepatic cholestasis 12.2
4 myo5b-related progressive familial intrahepatic cholestasis 12.1
5 cholestasis, progressive familial intrahepatic 3 11.9
6 cholestasis, progressive familial intrahepatic 2 11.9
7 bile acid synthesis defect, congenital, 1 11.7
8 cholestasis, progressive familial intrahepatic 4 11.4
9 atp8b1 deficiency 10.9
10 cholestasis, progressive familial intrahepatic, 5 10.8
11 cholestasis, intrahepatic, of pregnancy, 1 10.1 ABCB11 ATP8B1
12 dermatomyositis 10.0 ABCB4 NR1H4
13 cholestasis 10.0
14 intrahepatic cholestasis 10.0
15 campylobacteriosis 9.9 ABCB4 GGT1
16 eec syndrome 9.9 MYO5B SLC10A2
17 alport syndrome and thin basement membrane nephropathy 9.9 ABCB11 ATP8B1 NR1H4
18 tuberculum sellae meningioma 9.8 ABCB11 GGT1
19 acute cholangitis 9.8 ABCB11 ABCB4
20 osteomalacia 9.8
21 erythroleukemia, familial 9.7 GGT1 JAG1
22 prostate cancer, progression and metastasis of 9.7 ABCB4 GGT1 NR1H4
23 microcephaly, progressive, seizures, and cerebral and cerebellar atrophy 9.6 ABCB4 GGT1
24 isthmus cancer 9.6 ABCB11 ABCB4 GGT1
25 cholestasis, benign recurrent intrahepatic, 2 9.0 ABCB11 ABCB4 ATP8B1 MYO5B NR1H4
26 cholestasis, intrahepatic, of pregnancy, 3 9.0 ABCB11 ABCB4 ATP8B1 JAG1
27 bardet-biedl syndrome 6 9.0 ABCB11 ABCB4 ATP8B1 JAG1
28 lymphoblastic lymphoma 8.9 ABCB11 ABCB4 ATP8B1 GGT1 NR1H4
29 patent foramen ovale 8.7 ABCB11 JAG1 NR1H4 SLC10A2
30 orbital cancer 8.3 ABCB11 ABCB4 ATP8B1 GGT1 NR1H4 SLC10A2
31 hemorrhoid 8.3 ABCB11 ABCB4 ATP8B1 GGT1 NR1H4 SLC10A2
32 chronic rheumatic pericarditis 7.5 ABCB11 ABCB4 ATP8B1 GGT1 JAG1 NR1H4
33 eclampsia 7.5 ABCB11 ABCB4 ATP8B1 GGT1 JAG1 NR1H4

Graphical network of the top 20 diseases related to Cholestasis, Progressive Familial Intrahepatic 1:



Diseases related to Cholestasis, Progressive Familial Intrahepatic 1

Symptoms & Phenotypes for Cholestasis, Progressive Familial Intrahepatic 1

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Abdomen- Gastroin testinal:
diarrhea
malabsorption of fat and fat-soluble vitamins

Abdomen- Spleen:
splenomegaly

Laboratory- Abnormalities:
decreased serum cholesterol
conjugated hyperbilirubinemia
increased serum bile acids
normal or mildly increased serum gamma-ggt

Growth- Other:
failure to thrive
growth retardation

Abdomen- Liver:
hepatomegaly
jaundice
cirrhosis
intrahepatic cholestasis
intracanalicular cholestasis shown on biopsy
more
Skin Nails & Hair- Skin:
jaundice
pruritus


Clinical features from OMIM:

211600

Human phenotypes related to Cholestasis, Progressive Familial Intrahepatic 1:

56 32 (showing 21, show less)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 failure to thrive 56 32 hallmark (90%) Very frequent (99-80%) HP:0001508
3 cognitive impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0100543
4 hepatomegaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0002240
5 splenomegaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001744
6 jaundice 56 32 hallmark (90%) Very frequent (99-80%) HP:0000952
7 malabsorption 56 32 hallmark (90%) Very frequent (99-80%) HP:0002024
8 hypocalcemia 56 32 frequent (33%) Frequent (79-30%) HP:0002901
9 delayed skeletal maturation 56 32 frequent (33%) Frequent (79-30%) HP:0002750
10 neoplasm 56 32 occasional (7.5%) Occasional (29-5%) HP:0002664
11 reduced bone mineral density 56 32 frequent (33%) Frequent (79-30%) HP:0004349
12 abnormality of thrombocytes 56 32 frequent (33%) Frequent (79-30%) HP:0001872
13 abnormality of coagulation 56 32 hallmark (90%) Very frequent (99-80%) HP:0001928
14 diarrhea 32 HP:0002014
15 cirrhosis 32 HP:0001394
16 cholestasis 56 Very frequent (99-80%)
17 pruritus 32 HP:0000989
18 conjugated hyperbilirubinemia 32 HP:0002908
19 fat malabsorption 32 HP:0002630
20 severe short stature 32 HP:0003510
21 intrahepatic cholestasis with episodic jaundice 32 HP:0006575

UMLS symptoms related to Cholestasis, Progressive Familial Intrahepatic 1:


diarrhea, icterus, pruritus

GenomeRNAi Phenotypes related to Cholestasis, Progressive Familial Intrahepatic 1 according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased vaccinia virus (VACV-LREV ) gene expression GR00351-A-2 8.62 ATP8B1 JAG1

MGI Mouse Phenotypes related to Cholestasis, Progressive Familial Intrahepatic 1:

44 (showing 4, show less)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.76 ABCB11 ABCB4 ATP8B1 GGT1 JAG1 MYO5B
2 digestive/alimentary MP:0005381 9.65 ABCB4 JAG1 MYO5B NR1H4 SLC10A2
3 homeostasis/metabolism MP:0005376 9.56 ABCB11 ABCB4 ATP8B1 GGT1 JAG1 MYO5B
4 liver/biliary system MP:0005370 9.1 ABCB11 ABCB4 ATP8B1 JAG1 NR1H4 SLC10A2

Drugs & Therapeutics for Cholestasis, Progressive Familial Intrahepatic 1

Drugs for Cholestasis, Progressive Familial Intrahepatic 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 20, show less)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Liver Extracts Phase 2
2 Bile Acids and Salts Phase 2
3 Anticholesteremic Agents Phase 1
4 Antimetabolites Phase 1
5 Cholestyramine Resin Phase 1
6 Hypolipidemic Agents Phase 1
7 Lipid Regulating Agents Phase 1
8 Cola Nutraceutical Phase 1
9
Pancrelipase Approved 53608-75-6
10
Iron Approved 7439-89-6 23925
11
Glycerol Approved, Investigational 56-81-5 753
12 Estrogens
13 Alpha 1-Antitrypsin
14 Protein C Inhibitor
15 pancreatin
16 Gastrointestinal Agents
17
Bilirubin 635-65-4 5280352
18 Hematinics
19 4-phenylbutyric acid
20 Protective Agents

Interventional clinical trials:

(showing 13, show less)

id Name Status NCT ID Phase Drugs
1 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
2 Second-line Therapy of Unresectable Cholangiocarcinoma by RADIOEMBOLIZATION Terminated NCT01383746 Phase 1, Phase 2
3 An Open Label, Single-dose, Single Period ADME Study of A4250 in Healthy Subjects Completed NCT03082937 Phase 1 3 mg [14C]-A4250 capsule
4 A Safety and Pharmakokinetic Study of A4250 Alone or in Combination With A3384 Completed NCT02963077 Phase 1 A4250;CRC (A3384);Questran;Placebo
5 Validation of the Itch Reported Outcome (ItchRO) Diaries in Pediatric Cholestatic Liver Disease Completed NCT02131623
6 ABCB4 Gene Mutations in Intrahepatic Cholestasis of Pregnancy and Controls Completed NCT00700232
7 Evaluating the Genetic Causes and Progression of Cholestatic Liver Diseases (LOGIC) Recruiting NCT00571272
8 Shear Wave Sonoelastography in Pediatric Liver Fibrosis Recruiting NCT02372682
9 Sulfation of Bile Acids as a Biomarker for Hepatobiliary Diseases Recruiting NCT01200082
10 China Registry for Genetic / Metabolic Liver Diseases Recruiting NCT03131427 Standard of care
11 Buphenyl Therapy for Byler's Disease No longer available NCT01784718 Buphenyl
12 Transition From Buphenyl to RAVICTI for the Therapy of Byler Disease No longer available NCT01949766 Glycerol phenylbutyrate
13 Expanded Access Protocol for an Intermediate Size Population - RAVICTI for Byler Disease Temporarily not available NCT02094222 RAVICTI

Search NIH Clinical Center for Cholestasis, Progressive Familial Intrahepatic 1

Genetic Tests for Cholestasis, Progressive Familial Intrahepatic 1

Genetic tests related to Cholestasis, Progressive Familial Intrahepatic 1:

id Genetic test Affiliating Genes
1 Progressive Familial Intrahepatic Cholestasis, Type 1 24

Anatomical Context for Cholestasis, Progressive Familial Intrahepatic 1

MalaCards organs/tissues related to Cholestasis, Progressive Familial Intrahepatic 1:

39
Liver, Bone

Publications for Cholestasis, Progressive Familial Intrahepatic 1

Variations for Cholestasis, Progressive Familial Intrahepatic 1

UniProtKB/Swiss-Prot genetic disease variations for Cholestasis, Progressive Familial Intrahepatic 1:

71 (showing 17, show less)
id Symbol AA change Variation ID SNP ID
1 ATP8B1 p.Leu288Ser VAR_008809 rs121909099
2 ATP8B1 p.Gly308Val VAR_008810 rs28939685
3 ATP8B1 p.Ile661Thr VAR_008812 rs28939686
4 ATP8B1 p.Gly892Arg VAR_008813 rs121909098
5 ATP8B1 p.Asp554Asn VAR_015423 rs121909101
6 ATP8B1 p.Leu127Pro VAR_043046
7 ATP8B1 p.Ser403Tyr VAR_043053
8 ATP8B1 p.Arg412Pro VAR_043054
9 ATP8B1 p.Thr456Met VAR_043058 rs121909104
10 ATP8B1 p.Tyr500His VAR_043059 rs147642236
11 ATP8B1 p.His535Leu VAR_043061
12 ATP8B1 p.Asp688Gly VAR_043067
13 ATP8B1 p.Gly733Arg VAR_043069
14 ATP8B1 p.Phe853Ser VAR_043071 rs773092889
15 ATP8B1 p.Gly1040Arg VAR_043073
16 ATP8B1 p.Pro209Thr VAR_071045 rs515726138
17 ATP8B1 p.Ser1012Ile VAR_071046

ClinVar genetic disease variations for Cholestasis, Progressive Familial Intrahepatic 1:

6 (showing 16, show less)
id 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_005603.4(ATP8B1): c.2674G> A (p.Gly892Arg) single nucleotide variant Pathogenic rs121909098 GRCh37 Chromosome 18, 55328439: 55328439
3 ATP8B1 NM_005603.5(ATP8B1): c.863T> C (p.Leu288Ser) single nucleotide variant Pathogenic rs121909099 GRCh37 Chromosome 18, 55362480: 55362480
4 ATP8B1 NM_005603.4(ATP8B1): c.2097+2T> C single nucleotide variant Pathogenic rs387906381 GRCh37 Chromosome 18, 55336548: 55336548
5 ATP8B1 ATP8B1, 1.4-KB DEL deletion Pathogenic
6 ATP8B1 NM_005603.4(ATP8B1): c.1982T> C (p.Ile661Thr) single nucleotide variant Pathogenic rs121909100 GRCh37 Chromosome 18, 55336665: 55336665
7 ATP8B1 NM_005603.5(ATP8B1): c.1660G> A (p.Asp554Asn) single nucleotide variant Pathogenic rs121909101 GRCh37 Chromosome 18, 55342225: 55342225
8 ATP8B1 NM_005603.5(ATP8B1): c.1367C> T (p.Thr456Met) single nucleotide variant Pathogenic rs121909104 GRCh37 Chromosome 18, 55355593: 55355593
9 ATP8B1 NM_005603.5(ATP8B1): c.1804C> T (p.Arg602Ter) single nucleotide variant Pathogenic rs121909105 GRCh37 Chromosome 18, 55342081: 55342081
10 ATP8B1 NM_005603.4(ATP8B1): c.1993G> T (p.Glu665Ter) single nucleotide variant Pathogenic rs515726137 GRCh37 Chromosome 18, 55336654: 55336654
11 ATP8B1 NM_005603.5(ATP8B1): c.625C> A (p.Pro209Thr) single nucleotide variant Pathogenic rs515726138 GRCh38 Chromosome 18, 57697797: 57697797
12 NR1H4 NM_005123.3(NR1H4): c.419_420insAAA (p.Tyr139_Asn140insLys) insertion Pathogenic rs879255644 GRCh37 Chromosome 12, 100904895: 100904896
13 NR1H4 NM_005123.3(NR1H4): c.526C> T (p.Arg176Ter) single nucleotide variant Pathogenic rs113090017 GRCh37 Chromosome 12, 100926316: 100926316
14 NR1H4 NC_000012.11: g.100886254_100917988del31735 deletion Pathogenic GRCh37 Chromosome 12, 100886254: 100917988
15 ATP8B1 NM_005603.5(ATP8B1): c.3410C> G (p.Ser1137Ter) single nucleotide variant Pathogenic rs74414989 GRCh37 Chromosome 18, 55317720: 55317720
16 ATP8B1 NM_005603.5(ATP8B1): c.279G> A (p.Ala93=) single nucleotide variant Pathogenic rs761575295 GRCh37 Chromosome 18, 55373722: 55373722

Expression for Cholestasis, Progressive Familial Intrahepatic 1

Search GEO for disease gene expression data for Cholestasis, Progressive Familial Intrahepatic 1.

Pathways for Cholestasis, Progressive Familial Intrahepatic 1

GO Terms for Cholestasis, Progressive Familial Intrahepatic 1

Cellular components related to Cholestasis, Progressive Familial Intrahepatic 1 according to GeneCards Suite gene sharing:

(showing 5, show less)
id Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.65 ABCB11 ABCB4 ATP8B1 JAG1 SLC10A2
2 apical part of cell GO:0045177 9.33 ABCB11 ABCB4 JAG1
3 brush border membrane GO:0031526 9.32 ABCB4 ATP8B1
4 intercellular canaliculus GO:0046581 8.96 ABCB11 ABCB4
5 apical plasma membrane GO:0016324 8.92 ABCB4 ATP8B1 JAG1 SLC10A2

Biological processes related to Cholestasis, Progressive Familial Intrahepatic 1 according to GeneCards Suite gene sharing:

(showing 5, show less)
id Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.72 ABCB11 ABCB4 ATP8B1 MYO5B SLC10A2
2 phospholipid translocation GO:0045332 9.26 ABCB4 ATP8B1
3 drug transmembrane transport GO:0006855 9.16 ABCB4 ATP8B1
4 bile acid metabolic process GO:0008206 8.96 ATP8B1 NR1H4
5 bile acid and bile salt transport GO:0015721 8.92 ABCB11 ATP8B1 NR1H4 SLC10A2

Molecular functions related to Cholestasis, Progressive Familial Intrahepatic 1 according to GeneCards Suite gene sharing:

(showing 1, show less)
id Name GO ID Score Top Affiliating Genes
1 ATPase activity, coupled to transmembrane movement of substances GO:0042626 8.62 ABCB11 ABCB4

Sources for Cholestasis, Progressive Familial Intrahepatic 1

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