Progressive Familial Intrahepatic Cholestasis Type 5

Description

Progressive familial intrahepatic cholestasis-5 (PFIC5) is an autosomal recessive severe liver disorder characterized by onset of intralobular cholestasis in the neonatal period. The disease is rapidly progressive, leading to liver failure and death if liver transplant is not performed. Other features include abnormal liver enzymes, low to normal gamma-glutamyl transferase (GGT) activity, increased alpha-fetoprotein, and a vitamin K-independent coagulopathy (summary by Gomez-Ospina et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of PFIC, see PFIC1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Progressive Familial Intrahepatic Cholestasis Type 5

  • Failure to thrive
  • Edema
  • Jaundice
  • Hypoglycemia
  • Elevated hepatic transaminase
  • Abnormality of the liver
  • Cirrhosis
  • Hepatic failure
  • Ascites
  • Cholestasis

And another 8 symptoms. If you need more information about this disease we can help you.

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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 5 Is also known as nr1h4 deficiency, pfic5.

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.


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Progressive Familial Intrahepatic Cholestasis Type 5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Liver Diseases Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

SCP2, SLC10A1, SLC10A2, SLC25A13, SLC27A5, SMPD1, HNF1A, HNF1B, TJP2, UGT1A1, VPS33B, NEUROG3, ABCG5, ABCG8, NPC2, INVS, DCDC2, HSD3B7, CFTR, NPHP4 , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
100 %
Cholestasis Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

SLC25A13, TJP2, VPS33B, NPC2, HSD3B7, CFTR, CLDN1, VIPAS39, ATP8B1, AKR1D1, ABCB11, ABCB4, ABCC2, JAG1, LIPA, MYO5B, NOTCH2, NPC1, NR1H4, SERPINA1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Cholestasis Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

SLC25A13, TJP2, VPS33B, NPC2, HSD3B7, CFTR, CLDN1, VIPAS39, ATP8B1, AKR1D1, ABCB11, ABCB4, ABCC2, JAG1, LIPA, MYO5B, NOTCH2, NPC1, NR1H4, SERPINA1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Cholestasis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC25A13, TJP2, VPS33B, HSD3B7, CLDN1, VIPAS39, ATP8B1, AKR1D1, ABCB11, ABCB4, JAG1, NOTCH2, NR1H4, SERPINA1, BAAT
Specificity
7 %
Genes
100 %
Hepatic and pancreatic diseases - panels.

By MGZ Medical Genetics Center (Germany).

SLCO1B1, SLCO1B3, SLC25A13, SLC27A5, SMPD1, HNF1B, TJP2, UROD, UROS, VPS33B, NPC2, INVS, HSD3B7, CFTR, NPHP4, UTP4, CLDN1, VIPAS39, PEX26, CPOX , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %
Intrahepatic cholestasis of pregnancy, NR1H4 related.

By Centogene AG - the Rare Disease Company (Germany).

NR1H4
Specificity
100 %
Genes
100 %
Cholestasis, infantile, NR1H4 related.

By Centogene AG - the Rare Disease Company (Germany).

NR1H4
Specificity
100 %
Genes
100 %
Neonatal and Adult Cholestasis: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (United States).

SLC25A13, SLC27A5, SMPD1, HNF1B, TJP2, UGT1A1, VPS33B, ABCG5, ABCG8, NPC2, INVS, HSD3B7, CFTR, NPHP4, CLDN1, VIPAS39, PEX26, TMEM216, TRMU, CYP27A1 , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like RECESSIVE X-LINKED ICHTHYOSIS MYOTUBULAR MYOPATHY WITH ABNORMAL GENITAL DEVELOPMENT FILIPPI SYNDROME; FLPIS OHDO SYNDROME, SBBYS VARIANT; SBBYSS CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H

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