PFIC1
MCID: CHL080
MIFTS: 28

Cholestasis, Progressive Familial Intrahepatic 1 (PFIC1) malady

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

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21Genetics Home Reference, 65Wikipedia, 47OMIM, 33MalaCards
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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: Cholestasis, Progressive Familial Intrahepatic 1, also known as byler disease, is related to cholestasis, progressive familial intrahepatic 3 and pancreatitis. An important gene associated with Cholestasis, Progressive Familial Intrahepatic 1 is ATP8B1 (ATPase, aminophospholipid transporter, class I, type 8B, member 1). Affiliated tissues include liver.

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

Description from OMIM:47 211600

Aliases & Classifications for Cholestasis, Progressive Familial Intrahepatic 1

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21Genetics Home Reference, 49Orphanet, 43NIH Rare Diseases, 20GeneTests, 47OMIM, 45Novoseek, 62UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
byler disease:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

cholestasis, progressive familial intrahepatic 1 43 20 47
byler disease 43 21 45 49
progressive familial intrahepatic cholestasis 43 21
fic1 deficiency 21 49
pfic1 43 49
progressive familial intrahepatic cholestasis type 1 49
cholestasis, progressive familial intrahepatic 3 62
low γ-gt familial intrahepatic cholestasis 21
atp8b1-related intrahepatic cholestasis 21
abcb11-related intrahepatic cholestasis 21
abcb4-related intrahepatic cholestasis 21
progressive intrahepatic cholestasis 62
cholestasis, fatal intrahepatic 43
bsep deficiency 21
byler's disease 43
mdr3 deficiency 21
byler syndrome 21


External Ids:

OMIM47 211600
MESH via Orphanet36 C535933
ICD10 via Orphanet26 K83.1

Related Diseases for Cholestasis, Progressive Familial Intrahepatic 1

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17GeneCards, 18GeneDecks
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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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47OMIM
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Symptoms by clinical synopsis from OMIM:

211600

Clinical features from OMIM:

211600

Drugs & Therapeutics for Cholestasis, Progressive Familial Intrahepatic 1

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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20GeneTests
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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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33MalaCards
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MalaCards organs/tissues related to Cholestasis, Progressive Familial Intrahepatic 1:

33
Liver

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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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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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:

1 (show all 13)
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
3ABCB4NM_018849.2(ABCB4): c.2869C> T (p.Arg957Ter)single nucleotide variantPathogenicrs121918440GRCh37Chr 7, 87041264: 87041264
4ABCB4NM_018849.2(ABCB4): c.1207T> C (p.Tyr403His)single nucleotide variantPathogenicrs121918443GRCh37Chr 7, 87073002: 87073002
5ATP8B1NM_005603.4(ATP8B1): c.923G> T (p.Gly308Val)single nucleotide variantPathogenicrs111033609GRCh37Chr 18, 55362420: 55362420
6NM_005603.4(ATP8B1): c.2674G> A (p.Gly892Arg)single nucleotide variantPathogenicrs121909098GRCh37Chr 18, 55328439: 55328439
7ATP8B1NM_005603.4(ATP8B1): c.863T> C (p.Leu288Ser)single nucleotide variantPathogenicrs121909099GRCh37Chr 18, 55362480: 55362480
8ATP8B1NM_005603.4(ATP8B1): c.2097+2T> Csingle nucleotide variantPathogenicrs387906381GRCh37Chr 18, 55336548: 55336548
9ATP8B1ATP8B1, 1.4-KB DELdeletionPathogenic
10ATP8B1NM_005603.4(ATP8B1): c.1982T> C (p.Ile661Thr)single nucleotide variantPathogenicrs121909100GRCh37Chr 18, 55336665: 55336665
11ATP8B1NM_005603.4(ATP8B1): c.1660G> A (p.Asp554Asn)single nucleotide variantPathogenicrs121909101GRCh37Chr 18, 55342225: 55342225
12ATP8B1NM_005603.4(ATP8B1): c.1367C> T (p.Thr456Met)single nucleotide variantPathogenicrs121909104GRCh37Chr 18, 55355593: 55355593
13ATP8B1NM_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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cholestasis, Progressive Familial Intrahepatic 1

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

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Products for genes affiliated with Cholestasis, Progressive Familial Intrahepatic 1

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Sources for Cholestasis, Progressive Familial Intrahepatic 1

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet