MCID: CHL080
MIFTS: 47

Cholestasis, Progressive Familial Intrahepatic 1 malady

Genetic diseases, Rare diseases, Liver diseases, Nephrological diseases, Metabolic diseases, Reproductive diseases, Respiratory diseases categories

Aliases & Classifications for Cholestasis, Progressive Familial Intrahepatic 1

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Sources:
60UMLS, 45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47Orphanet, 43Novoseek, 26ICD10 via Orphanet, 61UMLS via Orphanet, 34MESH via Orphanet
See all sources

Cholestasis, Progressive Familial Intrahepatic 1, Aliases & Descriptions:

Name: Cholestasis, Progressive Familial Intrahepatic 1 45 10 41
Byler Disease 41 21 43 47
Progressive Familial Intrahepatic Cholestasis 41 21 47
Vitamin B12-Responsive Methylmalonic Acidemia Type Cbla 41 47
Vitamin B12-Responsive Methylmalonic Aciduria Type Cbla 41 47
Cholestasis, Progressive Familial Intrahepatic, 1 45 20
Fic1 Deficiency 21 47
Pfic1 41 47
Pfic 41 47
Progressive Familial Intrahepatic Cholestasis Type 1 47
Cholestasis, Progressive Familial Intrahepatic 3 60
 
Low ╬│-Gt Familial Intrahepatic Cholestasis 21
Atp8b1-Related Intrahepatic Cholestasis 21
Abcb11-Related Intrahepatic Cholestasis 21
Abcb4-Related Intrahepatic Cholestasis 21
Progressive Intrahepatic Cholestasis 60
Cholestasis, Fatal Intrahepatic 41
Mdr3 Deficiency 21
Byler's Disease 41
Bsep Deficiency 21
Byler Syndrome 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
progressive familial intrahepatic cholestasis:
Inheritance: Autosomal recessive; Age of onset: Adolescent,Childhood,Infancy,Neonatal
vitamin b12-responsive methylmalonic acidemia type cbla:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood
byler disease:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

OMIM45 211600
Orphanet47 172, 79310, 79306
ICD10 via Orphanet26 K83.1, E71.1
UMLS via Orphanet61 C0268312
MESH via Orphanet34 C537360, C535933

Summaries for Cholestasis, Progressive Familial Intrahepatic 1

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OMIM:45 Progressive familial intrahepatic cholestasis is a heterogeneous group of autosomal recessive liver disorders... (211600) more...

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 splenomegaly, abnormality of coagulation and malabsorption. An important gene associated with Cholestasis, Progressive Familial Intrahepatic 1 is ATP8B1 (ATPase, aminophospholipid transporter, class I, type 8B, member 1), and among its related pathways are Hepatic ABC Transporters and Bile secretion. The compounds PC(P-18:1(11Z)/20:1(11Z)) and PC(P-18:1(11Z)/20:2(11Z,14Z)) have been mentioned in the context of this disorder. Affiliated tissues include liver and bone.

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.

Wikipedia:63 Progressive familial intrahepatic cholestasis (PFIC) refers to a group of familial cholestatic... more...

Related Diseases for Cholestasis, Progressive Familial Intrahepatic 1

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Diseases in the Intrahepatic Cholestasis family:

Cholestasis, Benign Recurrent Intrahepatic, 2 Cholestasis, Benign Recurrent Intrahepatic
Cholestasis, Progressive Familial Intrahepatic 2 Cholestasis, Progressive Familial Intrahepatic 3
Cholestasis, Progressive Familial Intrahepatic 4 cholestasis, progressive familial intrahepatic 1
Atp8b1-Related Intrahepatic Cholestasis Abcb11-Related Intrahepatic Cholestasis

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

(show all 27)
idRelated DiseaseScoreTop Affiliating Genes
1cholestasis, progressive familial intrahepatic 330.6ABCB4, ATP8B1, ABCB11
2cholestasis, progressive familial intrahepatic 230.6ABCB4, ABCB11, ATP8B1
3cholestasis, benign recurrent intrahepatic30.2ATP8B1, ABCB11
4liver disease30.2ATP8B1, ABCB11, ABCB4
5cholelithiasis30.1ABCB4, ABCB11
6cholestasis30.0ABCB4, ATP8B1, ABCB11
7alagille syndrome30.0ABCB4, ATP8B1
8intrahepatic cholestasis29.9ATP8B1, ABCB11, ABCB4
9atp8b1-related intrahepatic cholestasis10.6
10abcb11-related intrahepatic cholestasis10.6
11pancreatitis10.6
12hepatocellular carcinoma10.3
13wilson disease10.3
14cholestasis, progressive familial intrahepatic 410.3
15cholangiocarcinoma10.3
16dilated cardiomyopathy10.3
17hepatitis10.3
18adenocarcinoma10.3
19diarrhea10.3
20hepatoblastoma10.3
21atp8b1 deficiency10.2
22goiter10.1
23bile acid synthesis defect, congenital, 110.1
24protein-losing enteropathy10.0
25low gamma-gt familial intrahepatic cholestasis9.9ATP8B1, ABCB11
26primary biliary cirrhosis9.9ABCB4, ABCB11
27galactosemia9.6ABCB4, ABCB11, ATP8B1

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

Symptoms:

 47 (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:

31
Liver, Bone

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

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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:

62 (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 24)
id Gene Variation 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
3ABCB4NM_018849.2(ABCB4): c.2869C> T (p.Arg957Ter)single nucleotide variantPathogenicrs121918440GRCh37Chr 7, 87041264: 87041264
4MMAAMMAA, 4-BP DEL, 592ACTGdeletionPathogenic
5MMAAMMAA, 8-BP INS, NT260insertionPathogenic
6MMAANM_172250.2(MMAA): c.283C> T (p.Gln95Ter)single nucleotide variantPathogenicrs104893846GRCh37Chr 4, 146560574: 146560574
7MMAANM_172250.2(MMAA): c.620A> G (p.Tyr207Cys)single nucleotide variantPathogenicrs104893849GRCh37Chr 4, 146567195: 146567195
8MMAANM_172250.2(MMAA): c.433C> T (p.Arg145Ter)single nucleotide variantPathogenicrs104893851GRCh37Chr 4, 146560724: 146560724
9ABCB11NM_003742.2(ABCB11): c.1723C> T (p.Arg575Ter)single nucleotide variantPathogenicrs72549401GRCh37Chr 2, 169826641: 169826641
10ABCB11NM_003742.2(ABCB11): c.890A> G (p.Glu297Gly)single nucleotide variantPathogenicrs11568372GRCh37Chr 2, 169847329: 169847329
11ABCB11ABCB11, 1-BP DEL, 908GdeletionPathogenic
12ABCB11NM_003742.2(ABCB11): c.3767dupC (p.Val1257Glyfs)duplicationPathogenicrs387907317GRCh37Chr 2, 169780330: 169780331
13ABCB11NM_003742.2(ABCB11): c.150+3A> Csingle nucleotide variantPathogenicrs387906354GRCh37Chr 2, 169870810: 169870810
14ABCB11ABCB11, 5-BP INS, GAGATinsertionPathogenic
15ABCB11NM_003742.2(ABCB11): c.3169C> T (p.Arg1057Ter)single nucleotide variantPathogenicrs72549397GRCh37Chr 2, 169788931: 169788931
16ATP8B1NM_005603.4(ATP8B1): c.923G> T (p.Gly308Val)single nucleotide variantPathogenicrs111033609GRCh37Chr 18, 55362420: 55362420
17NM_005603.4(ATP8B1): c.2674G> A (p.Gly892Arg)single nucleotide variantPathogenicrs121909098GRCh37Chr 18, 55328439: 55328439
18ATP8B1NM_005603.4(ATP8B1): c.863T> C (p.Leu288Ser)single nucleotide variantPathogenicrs121909099GRCh37Chr 18, 55362480: 55362480
19ATP8B1NM_005603.4(ATP8B1): c.2097+2T> Csingle nucleotide variantPathogenicrs387906381GRCh37Chr 18, 55336548: 55336548
20ATP8B1ATP8B1, 1.4-KB DELdeletionPathogenic
21ATP8B1NM_005603.4(ATP8B1): c.1982T> C (p.Ile661Thr)single nucleotide variantPathogenicrs121909100GRCh37Chr 18, 55336665: 55336665
22ATP8B1NM_005603.4(ATP8B1): c.1660G> A (p.Asp554Asn)single nucleotide variantPathogenicrs121909101GRCh37Chr 18, 55342225: 55342225
23ATP8B1NM_005603.4(ATP8B1): c.1367C> T (p.Thr456Met)single nucleotide variantPathogenicrs121909104GRCh37Chr 18, 55355593: 55355593
24ATP8B1NM_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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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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Pathways related to Cholestasis, Progressive Familial Intrahepatic 1 according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1ABCB11, ABCB4
29.1ABCB11, ABCB4
3
Show member pathways
9.1ABCB11, ABCB4
49.1ABCB11, ABCB4

Compounds for genes affiliated with Cholestasis, Progressive Familial Intrahepatic 1

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Sources:
24HMDB, 43Novoseek, 49PharmGKB, 12DrugBank, 28IUPHAR
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Compounds related to Cholestasis, Progressive Familial Intrahepatic 1 according to GeneCards Suite gene sharing:

(show top 50)    (show all 1084)
idCompoundScoreTop Affiliating Genes
1PC(P-18:1(11Z)/20:1(11Z))249.9ATP8B1, ABCB4
2PC(P-18:1(11Z)/20:2(11Z,14Z))249.9ATP8B1, ABCB4
3PC(P-18:1(11Z)/20:3(5Z,8Z,11Z))249.9ATP8B1, ABCB4
4PC(P-18:1(11Z)/20:3(8Z,11Z,14Z))249.9ATP8B1, ABCB4
5PC(P-18:1(11Z)/24:1(15Z))249.9ATP8B1, ABCB4
6PC(P-18:1(11Z)/20:0)249.9ABCB4, ATP8B1
7PC(P-18:1(11Z)/18:4(6Z,9Z,12Z,15Z))249.9ABCB4, ATP8B1
8PC(P-18:0/22:6(4Z,7Z,10Z,13Z,16Z,19Z))249.9ATP8B1, ABCB4
9PC(P-18:0/24:0)249.8ATP8B1, ABCB4
10PC(P-18:0/24:1(15Z))249.8ATP8B1, ABCB4
11PC(P-18:1(11Z)/14:0)249.8ATP8B1, ABCB4
12PC(P-18:1(9Z)/14:0)249.8ATP8B1, ABCB4
13PC(P-18:1(9Z)/20:3(8Z,11Z,14Z))249.8ATP8B1, ABCB4
14PC(P-18:1(9Z)/20:4(5Z,8Z,11Z,14Z))249.8ATP8B1, ABCB4
15PC(P-18:1(9Z)/20:4(8Z,11Z,14Z,17Z))249.8ATP8B1, ABCB4
16PC(P-18:1(9Z)/20:5(5Z,8Z,11Z,14Z,17Z))249.8ATP8B1, ABCB4
17PC(P-18:1(9Z)/22:0)249.8ATP8B1, ABCB4
18PC(P-18:1(9Z)/20:3(5Z,8Z,11Z))249.8ABCB4, ATP8B1
19PC(P-18:1(9Z)/14:1(9Z))249.8ATP8B1, ABCB4
20PC(P-18:1(9Z)/15:0)249.8ATP8B1, ABCB4
21PC(P-18:1(9Z)/16:0)249.8ATP8B1, ABCB4
22PC(P-18:1(9Z)/16:1(9Z))249.8ATP8B1, ABCB4
23PC(P-16:0/18:0)249.8ATP8B1, ABCB4
24PC(P-16:0/18:4(6Z,9Z,12Z,15Z))249.8ATP8B1, ABCB4
25PC(P-16:0/22:1(13Z))249.8ATP8B1, ABCB4
26PC(P-16:0/22:2(13Z,16Z))249.8ATP8B1, ABCB4
27PC(P-16:0/22:4(7Z,10Z,13Z,16Z))249.8ATP8B1, ABCB4
28PC(P-16:0/22:5(4Z,7Z,10Z,13Z,16Z))249.7ATP8B1, ABCB4
29PC(P-16:0/18:3(9Z,12Z,15Z))249.7ABCB4, ATP8B1
30PC(P-16:0/18:1(11Z))249.7ATP8B1, ABCB4
31PC(P-16:0/18:1(9Z))249.7ATP8B1, ABCB4
32PC(P-16:0/18:2(9Z,12Z))249.7ATP8B1, ABCB4
33PC(P-16:0/18:3(6Z,9Z,12Z))249.7ATP8B1, ABCB4
34PC(P-16:0/22:5(7Z,10Z,13Z,16Z,19Z))249.7ATP8B1, ABCB4
35PC(P-18:0/18:4(6Z,9Z,12Z,15Z))249.7ATP8B1, ABCB4
36PC(P-18:0/20:0)249.6ATP8B1, ABCB4
37PC(P-18:0/20:1(11Z))249.6ATP8B1, ABCB4
38glycocholate439.6ABCB11, ABCB4
39PC(P-18:0/22:5(4Z,7Z,10Z,13Z,16Z))249.6ATP8B1, ABCB4
40rhodamine 12343 4910.6ABCB4, ABCB11
41ursodeoxycholic acid43 24 1211.6ABCB11, ABCB4
42chenodeoxycholic acid43 28 24 1212.6ABCB11, ABCB4
43PC(P-18:0/22:5(7Z,10Z,13Z,16Z,19Z))249.5ATP8B1, ABCB4
44PC(P-18:0/18:3(9Z,12Z,15Z))249.5ABCB4, ATP8B1
45PC(P-16:0/22:6(4Z,7Z,10Z,13Z,16Z,19Z))249.4ATP8B1, ABCB4
46PC(P-18:0/18:3(6Z,9Z,12Z))249.4ATP8B1, ABCB4
47PC(P-16:0/24:0)249.3ATP8B1, ABCB4
48PC(P-18:0/18:2(9Z,12Z))249.1ATP8B1, ABCB4
49taurocholate439.1ABCB4, ABCB11, ATP8B1
50cholesterol43 28 24 1212.1ATP8B1, ABCB4, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intercellular canaliculusGO:00465818.8ABCB11, ABCB4
2apical plasma membraneGO:00163248.6ATP8B1, ABCB11, ABCB4

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

idNameGO IDScoreTop Affiliating Genes
1bile acid and bile salt transportGO:00157219.0ATP8B1, ABCB11
2bile acid metabolic processGO:00082068.8ATP8B1, ABCB11
3transmembrane transportGO:00550858.6ATP8B1, ABCB11, ABCB4

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

idNameGO IDScoreTop Affiliating Genes
1ATPase activity, coupled to transmembrane movement of substancesGO:00426269.1ABCB11, ABCB4

Products for genes affiliated with Cholestasis, Progressive Familial Intrahepatic 1

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  • Antibodies
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Sources for Cholestasis, Progressive Familial Intrahepatic 1

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet