Cholestasis, Progressive Familial Intrahepatic, 1; Pfic1
Description
Progressive familial intrahepatic cholestasis is a heterogeneous group of autosomal recessive liver disorders characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood (Alonso et al., 1994; Whitington et al., 1994; Klomp et al., 2004).
Genes related to Cholestasis, Progressive Familial Intrahepatic, 1; Pfic1
- ATP8B1
Clinical Features
Top most frequent phenotypes and symptoms related to Cholestasis, Progressive Familial Intrahepatic, 1; Pfic1
- Short stature
- Hearing impairment
- Growth delay
- Failure to thrive
- Sensorineural hearing impairment
- Hepatomegaly
- Diarrhea
- Splenomegaly
- Areflexia
- Pes cavus
And another 29 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
Cholestasis, Progressive Familial Intrahepatic, 1; Pfic1 Is also known as byler disease.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Cholestasis, Progressive Familial Intrahepatic, 1; Pfic1 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
ATP8B1 Comprehensive - Sequence & Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
ATP8B1
Specificity
100 %
Genes
100 % |
ATP8B1 Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
ATP8B1
Specificity
100 %
Genes
100 % |
ATP8B1 Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
ATP8B1
Specificity
100 %
Genes
100 % |
ATP8B1 Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
ATP8B1
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 % |
ATP8B1 Sequencing.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
ATP8B1
Specificity
100 %
Genes
100 % |
ATP8B1 Deletion/duplication analysis.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
ATP8B1
Specificity
100 %
Genes
100 % |
You can get up to 49 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA; HH7 METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLC EPISODIC ATAXIA, TYPE 1; EA1