PFIC
MCID: CHL080
MIFTS: 43

Cholestasis, Progressive Familial Intrahepatic 1 (PFIC) malady

Genetic diseases, Rare diseases, Liver diseases, Metabolic diseases, Gastrointestinal diseases categories
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Summaries for Cholestasis, Progressive Familial Intrahepatic 1

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Genetics Home Reference:21 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: Cholestasis, Progressive Familial Intrahepatic 1, also known as byler disease, is related to cholestasis, progressive familial intrahepatic 3 and cholestasis, progressive familial intrahepatic 2, and has symptoms including malabsorption/chronic diarrhea/steatorrhea, hepatitis/icterus/cholestasis and hepatomegaly/liver enlargement (excluding storage disease). An important gene associated with Cholestasis, Progressive Familial Intrahepatic 1 is ATP8B1 (ATPase, aminophospholipid transporter, class I, type 8B, member 1). The compounds taurocholate and lipid have been mentioned in the context of this disorder. Affiliated tissues include liver and bone, and related mouse phenotype liver/biliary system.

Wikipedia:65 Progressive familial intrahepatic cholestasis (PFIC) refers to a group of familial cholestatic... more...

Descriptions from OMIM:46 211600,601847,602347,615878

Aliases & Classifications for Cholestasis, Progressive Familial Intrahepatic 1

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Sources:
21Genetics Home Reference, 48Orphanet, 62UMLS, 42NIH Rare Diseases, 20GeneTests, 46OMIM, 44Novoseek, 26ICD10 via Orphanet, 63UMLS via Orphanet, 35MESH via Orphanet
See all sources

Cholestasis, Progressive Familial Intrahepatic 1, Aliases & Descriptions:

Name: Cholestasis, Progressive Familial Intrahepatic 1 42 20 46
Byler Disease 42 21 44 48
Progressive Familial Intrahepatic Cholestasis 42 21 48
Fic1 Deficiency 21 48 62
Abcb4-Related Intrahepatic Cholestasis 21 62
Mdr3 Deficiency 21 62
Pfic1 42 48
Progressive Familial Intrahepatic Cholestasis Type 1 48
Low γ-Gt Familial Intrahepatic Cholestasis 21
 
Abcb11-Related Intrahepatic Cholestasis 21
Atp8b1-Related Intrahepatic Cholestasis 21
Progressive Intrahepatic Cholestasis 62
Cholestasis, Fatal Intrahepatic 42
Bsep Deficiency 21
Byler's Disease 42
Byler Syndrome 21
Pfic 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
progressive familial intrahepatic cholestasis:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy
byler disease:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


External Ids:

ICD10 via Orphanet26 K83.1
UMLS via Orphanet63 C0268312
MESH via Orphanet35 C535933

Related Diseases for Cholestasis, Progressive Familial Intrahepatic 1

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Diseases in the Cholestasis, Progressive Familial Intrahepatic 1 family:

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

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

(show all 29)
idRelated DiseaseScoreTop Affiliating Genes
1cholestasis, progressive familial intrahepatic 330.9ATP8B1, ABCB11
2cholestasis, progressive familial intrahepatic 230.8ATP8B1, ABCB11
3cholestasis30.2ATP8B1, ABCB11
4benign recurrent intrahepatic cholestasis30.2ATP8B1, ABCB11
5intrahepatic cholestasis30.1ATP8B1, ABCB11
6pancreatitis10.6
7atp8b1-related intrahepatic cholestasis10.5
8abcb11-related intrahepatic cholestasis10.5
9liver disease10.5
10intrahepatic cholestasis of pregnancy10.5
11atp8b1 deficiency10.3
12alagille syndrome10.3
13cholangiocarcinoma10.3
14dilated cardiomyopathy10.3
15hepatitis10.3
16hepatocellular carcinoma10.3
17wilson disease10.3
18cholelithiasis10.3
19adenocarcinoma10.3
20diarrhea10.3
21hepatoblastoma10.3
22benign recurrent intrahepatic cholestasis 110.3
23cholestasis, progressive familial intrahepatic 410.3
24familial mediterranean fever10.1
25goiter10.1
26bile acid synthesis defect, congenital, 110.1
27protein-losing enteropathy10.0
28low gamma-gt familial intrahepatic cholestasis9.9ATP8B1, ABCB11
29galactosemia9.9ATP8B1, ABCB11

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



Diseases related to cholestasis, progressive familial intrahepatic 1

Symptoms for Cholestasis, Progressive Familial Intrahepatic 1

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Symptoms by clinical synopsis from OMIM:

211600

Clinical features from OMIM:

211600,601847,602347,615878

Symptoms:

48 (show all 14)
  • malabsorption/chronic diarrhea/steatorrhea
  • hepatitis/icterus/cholestasis
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • clotting/hemostasis disorders
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • delayed bone age
  • platelet disorders/thrombopathies
  • hypocalcemia
  • neoplasms/tumors

HPO human phenotypes related to Cholestasis, Progressive Familial Intrahepatic 1:

(show all 24)
id Description Frequency HPO Source Accession
1 splenomegaly hallmark (90%) HP:0001744
2 abnormality of coagulation hallmark (90%) HP:0001928
3 malabsorption hallmark (90%) HP:0002024
4 hepatomegaly hallmark (90%) HP:0002240
5 short stature hallmark (90%) HP:0004322
6 cognitive impairment hallmark (90%) HP:0100543
7 abnormality of thrombocytes typical (50%) HP:0001872
8 delayed skeletal maturation typical (50%) HP:0002750
9 hypocalcemia typical (50%) HP:0002901
10 reduced bone mineral density typical (50%) HP:0004349
11 neoplasm occasional (7.5%) HP:0002664
12 autosomal recessive inheritance HP:0000007
13 jaundice HP:0000952
14 pruritus HP:0000989
15 cirrhosis HP:0001394
16 failure to thrive HP:0001508
17 splenomegaly HP:0001744
18 diarrhea HP:0002014
19 hepatomegaly HP:0002240
20 fat malabsorption HP:0002630
21 conjugated hyperbilirubinemia HP:0002908
22 severe short stature HP:0003510
23 infantile onset HP:0003593
24 intrahepatic cholestasis with episodic jaundice HP:0006575

Drugs & Therapeutics for Cholestasis, Progressive Familial Intrahepatic 1

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Drug clinical trials:

Search ClinicalTrials for Cholestasis, Progressive Familial Intrahepatic 1

Search NIH Clinical Center for Cholestasis, Progressive Familial Intrahepatic 1

Genetic Tests for Cholestasis, Progressive Familial Intrahepatic 1

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Genetic tests related to Cholestasis, Progressive Familial Intrahepatic 1:

id Genetic test Affiliating Genes
1 Progressive Familial Intrahepatic Cholestasis, Type 120

Anatomical Context for Cholestasis, Progressive Familial Intrahepatic 1

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

32
Liver, Bone

Animal Models for Cholestasis, Progressive Familial Intrahepatic 1 or affiliated genes

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

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.1ATP8B1, ABCB11

Publications for Cholestasis, Progressive Familial Intrahepatic 1

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Variations for Cholestasis, Progressive Familial Intrahepatic 1

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

64 (show all 17)
id Symbol AA change Variation ID SNP ID
1ATP8B1p.Leu288SerVAR_008809
2ATP8B1p.Gly308ValVAR_008810rs28939685
3ATP8B1p.Ile661ThrVAR_008812rs28939686
4ATP8B1p.Gly892ArgVAR_008813
5ATP8B1p.Asp554AsnVAR_015423
6ATP8B1p.Leu127ProVAR_043046
7ATP8B1p.Ser403TyrVAR_043053
8ATP8B1p.Arg412ProVAR_043054
9ATP8B1p.Thr456MetVAR_043058
10ATP8B1p.Tyr500HisVAR_043059
11ATP8B1p.His535LeuVAR_043061
12ATP8B1p.Asp688GlyVAR_043067
13ATP8B1p.Gly733ArgVAR_043069
14ATP8B1p.Phe853SerVAR_043071
15ATP8B1p.Gly1040ArgVAR_043073
16ATP8B1p.Pro209ThrVAR_071045
17ATP8B1p.Ser1012IleVAR_071046

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

6 (show all 18)
id Gene Name Type Significance SNP ID Assembly Location
1ATP8B1NM_005603.4(ATP8B1): c.1993G> T (p.Glu665Ter)single nucleotide variantPathogenicrs515726137GRCh37Chr 18, 55336654: 55336654
2ATP8B1NM_005603.4(ATP8B1): c.625C> A (p.Pro209Thr)single nucleotide variantPathogenicrs515726138GRCh38Chr 18, 57697797: 57697797
3ABCB11NM_003742.2(ABCB11): c.1723C> T (p.Arg575Ter)single nucleotide variantPathogenicrs72549401GRCh37Chr 2, 169826641: 169826641
4ABCB11NM_003742.2(ABCB11): c.890A> G (p.Glu297Gly)single nucleotide variantPathogenicrs11568372GRCh37Chr 2, 169847329: 169847329
5ABCB11ABCB11, 1-BP DEL, 908GdeletionPathogenic
6ABCB11NM_003742.2(ABCB11): c.3767dupC (p.Val1257Glyfs)duplicationPathogenicrs387907317GRCh37Chr 2, 169780330: 169780331
7ABCB11NM_003742.2(ABCB11): c.150+3A> Csingle nucleotide variantPathogenicrs387906354GRCh37Chr 2, 169870810: 169870810
8ABCB11ABCB11, 5-BP INS, GAGATinsertionPathogenic
9ABCB11NM_003742.2(ABCB11): c.3169C> T (p.Arg1057Ter)single nucleotide variantPathogenicrs72549397GRCh37Chr 2, 169788931: 169788931
10ATP8B1NM_005603.4(ATP8B1): c.923G> T (p.Gly308Val)single nucleotide variantPathogenicrs111033609GRCh37Chr 18, 55362420: 55362420
11NM_005603.4(ATP8B1): c.2674G> A (p.Gly892Arg)single nucleotide variantPathogenicrs121909098GRCh37Chr 18, 55328439: 55328439
12ATP8B1NM_005603.4(ATP8B1): c.863T> C (p.Leu288Ser)single nucleotide variantPathogenicrs121909099GRCh37Chr 18, 55362480: 55362480
13ATP8B1NM_005603.4(ATP8B1): c.2097+2T> Csingle nucleotide variantPathogenicrs387906381GRCh37Chr 18, 55336548: 55336548
14ATP8B1ATP8B1, 1.4-KB DELdeletionPathogenic
15ATP8B1NM_005603.4(ATP8B1): c.1982T> C (p.Ile661Thr)single nucleotide variantPathogenicrs121909100GRCh37Chr 18, 55336665: 55336665
16ATP8B1NM_005603.4(ATP8B1): c.1660G> A (p.Asp554Asn)single nucleotide variantPathogenicrs121909101GRCh37Chr 18, 55342225: 55342225
17ATP8B1NM_005603.4(ATP8B1): c.1367C> T (p.Thr456Met)single nucleotide variantPathogenicrs121909104GRCh37Chr 18, 55355593: 55355593
18ATP8B1NM_005603.4(ATP8B1): c.1804C> T (p.Arg602Ter)single nucleotide variantPathogenicrs121909105GRCh37Chr 18, 55342081: 55342081

Expression for genes affiliated with Cholestasis, Progressive Familial Intrahepatic 1

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Expression patterns in normal tissues for genes affiliated with Cholestasis, Progressive Familial Intrahepatic 1

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

Pathways for genes affiliated with Cholestasis, Progressive Familial Intrahepatic 1

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Compounds for genes affiliated with Cholestasis, Progressive Familial Intrahepatic 1

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Sources:
44Novoseek, 28IUPHAR, 24HMDB, 11DrugBank
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Compounds related to Cholestasis, Progressive Familial Intrahepatic 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1taurocholate449.1ATP8B1, ABCB11
2lipid449.1ATP8B1, ABCB11
3cholesterol44 28 24 1112.0ATP8B1, ABCB11
4Adenosine triphosphate24 119.8ATP8B1, ABCB11

GO Terms for genes affiliated with Cholestasis, Progressive Familial Intrahepatic 1

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Cellular components related to Cholestasis, Progressive Familial Intrahepatic 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral component of plasma membraneGO:0058879.1ATP8B1, ABCB11
2apical plasma membraneGO:0163248.8ATP8B1, ABCB11

Biological processes related to Cholestasis, Progressive Familial Intrahepatic 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transmembrane transportGO:0550859.1ATP8B1, ABCB11
2bile acid and bile salt transportGO:0157219.0ATP8B1, ABCB11
3bile acid metabolic processGO:0082068.8ATP8B1, ABCB11

Molecular functions related to Cholestasis, Progressive Familial Intrahepatic 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ATP bindingGO:0055249.1ATP8B1, ABCB11

Products for genes affiliated with Cholestasis, Progressive Familial Intrahepatic 1

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  • Antibodies
  • Proteins
  • Lysates

Sources for Cholestasis, Progressive Familial Intrahepatic 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet