Progressive Familial Intrahepatic Cholestasis Type 3
Description
Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood.
Genes related to Progressive Familial Intrahepatic Cholestasis Type 3
- ABCB4
Clinical Features
Top most frequent phenotypes and symptoms related to Progressive Familial Intrahepatic Cholestasis Type 3
- Failure to thrive
- Hypertension
- Hepatomegaly
- Fever
- Diarrhea
- Splenomegaly
- Jaundice
- Hepatosplenomegaly
- Elevated hepatic transaminase
- Pruritus
And another 8 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Progressive Familial Intrahepatic Cholestasis Type 3 Is also known as cholestasis, progressive familial intrahepatic, with elevated serum gamma-glutamyltransferase, mdr3 deficiency, pfic3.
Researches and researchers
Doctors, researchs, and experts related to Progressive Familial Intrahepatic Cholestasis Type 3 extracted from public data.
Progressive Familial Intrahepatic Cholestasis Type 3 Experts map
Current Researchs and researchers
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SANTA MARIA IMBARO — Dr Antonio MOSCHETTA
Investigator of research project
-
Institution/s:
— Dipartimento di Biologia Cellulare e Oncologia, Consorzio Mario Negri Sud -
Research area/topic::
Targeting nuclear bile acid receptor FXR in Progressive Familial Intrahepatic Cholestasis
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Institution/s:
Progressive Familial Intrahepatic Cholestasis Type 3 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
ABCB4 Comprehensive - Sequence & Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
ABCB4
Specificity
100 %
Genes
100 % |
ABCB4 Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
ABCB4
Specificity
100 %
Genes
100 % |
ABCB4 Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
ABCB4
Specificity
100 %
Genes
100 % |
ABCB4 Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
ABCB4
Specificity
100 %
Genes
100 % |
MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
100 % |
Cholestasis.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SLC25A13, ATP8B1, AKR1D1, ABCB4, JAG1
Specificity
20 %
Genes
100 % |
ABCB4 Sequencing.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
ABCB4
Specificity
100 %
Genes
100 % |
ABCB4 Deletion/duplication analysis.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
ABCB4
Specificity
100 %
Genes
100 % |
You can get up to 53 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM MESH ORPHANET Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL; TTP SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED; IPEX 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY; HMGCS2D HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; XLHR PONTOCEREBELLAR HYPOPLASIA, TYPE 1C; PCH1C CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2