PFIC
MCID: CHL080
MIFTS: 27

Cholestasis, Progressive Familial Intrahepatic 1 (PFIC) malady

Liver, Metabolic, Genetic categories

Summaries for Cholestasis, Progressive Familial Intrahepatic 1

Sources:
21Genetics Home Reference, 64Wikipedia, 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 2 and cholestasis, progressive familial intrahepatic 3, and has symptoms including autosomal recessive inheritance, intellectual deficit/mental/psychomotor retardation/learning disability and failure to thrive/difficulties for feeding in infancy/growth delay. 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:64 Progressive familial intrahepatic cholestasis (PFIC) refers to a group of familial cholestatic... more...

Description from OMIM:47 211600,601847,602347

Aliases & Classifications for Cholestasis, Progressive Familial Intrahepatic 1

Sources:
43NIH Rare Diseases, 20GeneTests, 47OMIM, 21Genetics Home Reference, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 36MESH via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Liver, Metabolic


Characteristics (Orphanet epidemiological data):

49
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


Aliases & Descriptions:

cholestasis, progressive familial intrahepatic 1 43 20 47
byler disease 43 21 45 49
progressive familial intrahepatic cholestasis 43 21 49
fic1 deficiency 21 49
pfic1 43 49
progressive familial intrahepatic cholestasis type 1 49
cholestasis, progressive familial intrahepatic 3 61
low -gt familial intrahepatic cholestasis 21
abcb11-related intrahepatic cholestasis 21
atp8b1-related intrahepatic cholestasis 21
abcb4-related intrahepatic cholestasis 21
progressive intrahepatic cholestasis 61
cholestasis, fatal intrahepatic 43
bsep deficiency 21
mdr3 deficiency 21
byler's disease 43
byler syndrome 21
pfic 49


External Ids:

ICD10 via Orphanet26 K83.1
SNOMED-CT via Orphanet58 74162007
UMLS via Orphanet62 C0268312
MESH via Orphanet36 C535933

Related Diseases for Cholestasis, Progressive Familial Intrahepatic 1

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Cholestasis, Progressive Familial Intrahepatic 1:



Diseases related to cholestasis, progressive familial intrahepatic 1

Clinical Features for Cholestasis, Progressive Familial Intrahepatic 1

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

211600,601847,602347

Clinical synopsis from OMIM:

211600

Symptoms:

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

Drugs & Therapeutics for Cholestasis, Progressive Familial Intrahepatic 1

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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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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

Sources:
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

Sources:
28inGenious Targeting Laboratory
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Publications for Cholestasis, Progressive Familial Intrahepatic 1

Sources:
51PubMed
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Articles related to Cholestasis, Progressive Familial Intrahepatic 1:

idTitleAuthorsYear
1
Progressive familial intrahepatic cholestasis (PFIC): evidence for genetic heterogeneity by exclusion of linkage to chromosome 18q21-q22. (9272158)
1997
2
Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region. (7655458)
1995

Genetic Variations for Cholestasis, Progressive Familial Intrahepatic 1

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Cholestasis, Progressive Familial Intrahepatic 1:

63 (show all 15)
id Symbol AA change Variation 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

Expression for genes affiliated with Cholestasis, Progressive Familial Intrahepatic 1

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Compounds for genes affiliated with Cholestasis, Progressive Familial Intrahepatic 1

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

Products for genes affiliated with Cholestasis, Progressive Familial Intrahepatic 1

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cholestasis, Progressive Familial Intrahepatic 1

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet