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.

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.

Click here to know more about Mendelian.

Incidence and onset information

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

  • 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



Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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 %
MitoMetĀ®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 %

We have 53 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like VITREORETINAL DEGENERATION, SNOWFLAKE TYPE; SVD HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1 COFFIN-SIRIS SYNDROME 5; CSS5 BRACHYDACTYLY, TYPE B2; BDB2 ACNE INVERSA, FAMILIAL, 1; ACNINV1 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm; CDG2M

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more