PFIC
MCID: CHL080
MIFTS: 37

Cholestasis, Progressive Familial Intrahepatic 1 (PFIC) malady

Liver diseases, Metabolic diseases, Genetic diseases categories

Summaries for Cholestasis, Progressive Familial Intrahepatic 1

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21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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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 cholestasis, progressive familial intrahepatic 2, and has symptoms including neoplasms/tumors, hypocalcemia and platelet disorders/thrombopathies. 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 and bone.

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

Description from OMIM:46 211600,601847,602347

Aliases & Classifications for Cholestasis, Progressive Familial Intrahepatic 1

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Sources:
42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet
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Classifications:

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


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


Aliases & Descriptions:

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
pfic1 42 48
progressive familial intrahepatic cholestasis type 1 48
cholestasis, progressive familial intrahepatic 3 60
low γ-gt familial intrahepatic cholestasis 21
abcb11-related intrahepatic cholestasis 21
atp8b1-related intrahepatic cholestasis 21
abcb4-related intrahepatic cholestasis 21
progressive intrahepatic cholestasis 60
cholestasis, fatal intrahepatic 42
mdr3 deficiency 21
bsep deficiency 21
byler's disease 42
byler syndrome 21
pfic 48


External Ids:

ICD10 via Orphanet26 K83.1
SNOMED-CT via Orphanet57 74162007
UMLS via Orphanet61 C0268312
MESH via Orphanet35 C535933

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

Clinical Features for Cholestasis, Progressive Familial Intrahepatic 1

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46OMIM, 48Orphanet
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Clinical features from OMIM:

211600,601847,602347

Clinical synopsis from OMIM:

211600

Symptoms:

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

Drugs & Therapeutics for Cholestasis, Progressive Familial Intrahepatic 1

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

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32MalaCards
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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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Publications for Cholestasis, Progressive Familial Intrahepatic 1

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Genetic Variations for Cholestasis, Progressive Familial Intrahepatic 1

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Cholestasis, Progressive Familial Intrahepatic 1:

62 (show all 15)
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

Expression for genes affiliated with Cholestasis, Progressive Familial Intrahepatic 1

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1BioGPS, 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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  • Antibodies
  • Proteins
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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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet