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PFIC2
MCID: CHL136
MIFTS: 47
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Cholestasis, Progressive Familial Intrahepatic, 2 (PFIC2)
Categories:
Cancer diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases
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MalaCards integrated aliases for Cholestasis, Progressive Familial Intrahepatic, 2:
Characteristics:Orphanet epidemiological data:60
progressive familial intrahepatic cholestasis type 2
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; OMIM:58
Inheritance:
autosomal recessive
Miscellaneous:
onset in early infancy caused by a defect in bile acid transport genetic heterogeneity, see pfic1 HPO:33
cholestasis, progressive familial intrahepatic, 2:
Onset and clinical course infantile onset Mortality/Aging death in childhood Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Cancer diseases Anatomical: Liver diseases Gastrointestinal diseases
ICD10:
35
External Ids:
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NIH Rare Diseases
:
54
Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a rare condition that affects the liver. People with this condition generally develop signs and symptoms during infancy, which may include severe itching, jaundice, failure to thrive, portal hypertension (high blood pressure in the vein that provides blood to the liver) and hepatosplenomegaly (enlarged liver and spleen). PFIC2 generally progresses to liver failure in the first few years of life. Affected people also have an increased risk of developing hepatocellular carcinoma (a form of liver cancer). PFIC2 is caused by change (mutations) in the ABCB11 gene and is inherited in an autosomal recessive manner. Treatment may include ursodeoxycholic acid therapy to prevent liver damage, surgery and/or liver transplantation.
MalaCards based summary : Cholestasis, Progressive Familial Intrahepatic, 2, also known as pfic2, is related to cholestasis, progressive familial intrahepatic, 1 and progressive familial intrahepatic cholestasis, and has symptoms including pruritus, diarrhea and icterus. An important gene associated with Cholestasis, Progressive Familial Intrahepatic, 2 is ABCB11 (ATP Binding Cassette Subfamily B Member 11), and among its related pathways/superpathways are Hepatic ABC Transporters and Statin Pathway. Affiliated tissues include liver and spleen, and related phenotypes are failure to thrive and splenomegaly Disease Ontology : 12 A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has material basis in mutation in the ABCB11 gene on chromosome 2q31. UniProtKB/Swiss-Prot : 76 Cholestasis, progressive familial intrahepatic, 2: A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. Wikipedia : 77 Progressive familial intrahepatic cholestasis (PFIC) is a group of familial cholestatic conditions... more...
Description from OMIM:
601847
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Human phenotypes related to Cholestasis, Progressive Familial Intrahepatic, 2:33 (show all 13)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:601847UMLS symptoms related to Cholestasis, Progressive Familial Intrahepatic, 2:pruritus, diarrhea, icterus GenomeRNAi Phenotypes related to Cholestasis, Progressive Familial Intrahepatic, 2 according to GeneCards Suite gene sharing:27
MGI Mouse Phenotypes related to Cholestasis, Progressive Familial Intrahepatic, 2:47
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Interventional clinical trials:
Cochrane evidence based reviews: cholestasis, progressive familial intrahepatic 2 |
MalaCards organs/tissues related to Cholestasis, Progressive Familial Intrahepatic, 2:42
Liver,
Spleen
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Articles related to Cholestasis, Progressive Familial Intrahepatic, 2:
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Genes related to Cholestasis, Progressive Familial Intrahepatic, 2 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Cholestasis, Progressive Familial Intrahepatic, 2:76 (show all 12)
ClinVar genetic disease variations for Cholestasis, Progressive Familial Intrahepatic, 2:6 (show all 30)
Cosmic variations for Cholestasis, Progressive Familial Intrahepatic, 2:9 (show top 50) (show all 3350)
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Search
GEO
for disease gene expression data for Cholestasis, Progressive Familial Intrahepatic, 2.
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Pathways related to Cholestasis, Progressive Familial Intrahepatic, 2 according to GeneCards Suite gene sharing:
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Cellular components related to Cholestasis, Progressive Familial Intrahepatic, 2 according to GeneCards Suite gene sharing:
Biological processes related to Cholestasis, Progressive Familial Intrahepatic, 2 according to GeneCards Suite gene sharing:
Molecular functions related to Cholestasis, Progressive Familial Intrahepatic, 2 according to GeneCards Suite gene sharing:
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