PFIC3
MCID: CHL137
MIFTS: 53
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Cholestasis, Progressive Familial Intrahepatic, 3 (PFIC3)
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, 3:
Characteristics:Orphanet epidemiological data:58
progressive familial intrahepatic cholestasis type 3
Inheritance: Autosomal recessive; Age of onset: All ages; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset in early infancy genetic heterogeneity (see pfic1, ) carrier females may develop intrahepatic cholestasis of pregnancy (icp, ) HPO:31
cholestasis, progressive familial intrahepatic, 3:
Inheritance autosomal recessive inheritance heterogeneous Onset and clinical course infantile onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Cancer diseases Anatomical: Liver diseases Gastrointestinal diseases
ICD10:
33
Orphanet: 58
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GARD :
20
Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare condition that affects the liver. People with this condition generally develop signs and symptoms during late infancy or early childhood, 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). The condition may progress to liver failure during childhood or adulthood. PFIC3 is caused by change (mutations) in the ABCB4 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, 3, also known as pfic3, is related to atp8b1 deficiency and cholangitis, and has symptoms including pruritus, diarrhea and icterus. An important gene associated with Cholestasis, Progressive Familial Intrahepatic, 3 is ABCB4 (ATP Binding Cassette Subfamily B Member 4), and among its related pathways/superpathways are Metabolism and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Affiliated tissues include liver and spleen, and related phenotypes are splenomegaly and hepatomegaly Disease Ontology : 12 A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has material basis in mutation in the ABCB4 gene on chromosome 7q21.12. UniProtKB/Swiss-Prot : 73 Cholestasis, progressive familial intrahepatic, 3: A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. Wikipedia : 74 Progressive familial intrahepatic cholestasis (PFIC) is a group of familial cholestatic conditions... more... |
Human phenotypes related to Cholestasis, Progressive Familial Intrahepatic, 3:31 (show all 11)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:602347 (Updated 05-Mar-2021)UMLS symptoms related to Cholestasis, Progressive Familial Intrahepatic, 3:pruritus, diarrhea, icterus GenomeRNAi Phenotypes related to Cholestasis, Progressive Familial Intrahepatic, 3 according to GeneCards Suite gene sharing:26 (show all 12)
MGI Mouse Phenotypes related to Cholestasis, Progressive Familial Intrahepatic, 3:46
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Interventional clinical trials:
Cochrane evidence based reviews: cholestasis, progressive familial intrahepatic 3 |
MalaCards organs/tissues related to Cholestasis, Progressive Familial Intrahepatic, 3:40
Liver,
Spleen
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Articles related to Cholestasis, Progressive Familial Intrahepatic, 3:(show top 50) (show all 63)
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ClinVar genetic disease variations for Cholestasis, Progressive Familial Intrahepatic, 3:6 (show top 50) (show all 75)
UniProtKB/Swiss-Prot genetic disease variations for Cholestasis, Progressive Familial Intrahepatic, 3:73 (show all 39)
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GEO
for disease gene expression data for Cholestasis, Progressive Familial Intrahepatic, 3.
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Pathways related to Cholestasis, Progressive Familial Intrahepatic, 3 according to GeneCards Suite gene sharing:(show all 21)
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Cellular components related to Cholestasis, Progressive Familial Intrahepatic, 3 according to GeneCards Suite gene sharing:
Biological processes related to Cholestasis, Progressive Familial Intrahepatic, 3 according to GeneCards Suite gene sharing:(show all 31)
Molecular functions related to Cholestasis, Progressive Familial Intrahepatic, 3 according to GeneCards Suite gene sharing:(show all 15)
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