PFIC1
MCID: CHL080
MIFTS: 28

Cholestasis, Progressive Familial Intrahepatic 1 (PFIC1) malady

Genetic diseases, Rare diseases, Liver diseases, Gastrointestinal diseases categories

Summaries for Cholestasis, Progressive Familial Intrahepatic 1

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22Genetics Home Reference, 66Wikipedia, 48OMIM, 34MalaCards
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Genetics Home Reference:22 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:66 Progressive familial intrahepatic cholestasis (PFIC) refers to a group of familial cholestatic... more...

Description from OMIM:48 211600

Aliases & Classifications for Cholestasis, Progressive Familial Intrahepatic 1

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22Genetics Home Reference, 50Orphanet, 44NIH Rare Diseases, 21GeneTests, 48OMIM, 46Novoseek, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
byler disease:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

cholestasis, progressive familial intrahepatic 1 44 21 48
byler disease 44 22 46 50
progressive familial intrahepatic cholestasis 44 22
fic1 deficiency 22 50
pfic1 44 50
progressive familial intrahepatic cholestasis type 1 50
cholestasis, progressive familial intrahepatic 3 63
low γ-gt familial intrahepatic cholestasis 22
atp8b1-related intrahepatic cholestasis 22
abcb11-related intrahepatic cholestasis 22
abcb4-related intrahepatic cholestasis 22
progressive intrahepatic cholestasis 63
cholestasis, fatal intrahepatic 44
bsep deficiency 22
byler's disease 44
mdr3 deficiency 22
byler syndrome 22


External Ids:

OMIM48 211600
MESH via Orphanet37 C535933
ICD10 via Orphanet27 K83.1

Related Diseases for Cholestasis, Progressive Familial Intrahepatic 1

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18GeneCards, 19GeneDecks
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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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48OMIM
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Cholestasis, Progressive Familial Intrahepatic 1

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21GeneTests
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Genetic tests related to Cholestasis, Progressive Familial Intrahepatic 1:

id Genetic test Affiliating Genes
1 Progressive Familial Intrahepatic Cholestasis, Type 121

Anatomical Context for Cholestasis, Progressive Familial Intrahepatic 1

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34MalaCards
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MalaCards organs/tissues related to Cholestasis, Progressive Familial Intrahepatic 1:

34
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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Cholestasis, Progressive Familial Intrahepatic 1:

65 (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, 16Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet