Progressive Familial Intrahepatic Cholestasis Type 5

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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 ).

Genes related to Progressive Familial Intrahepatic Cholestasis Type 5

NR1H4

View recommended genes panels

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.

Click here to know more about Mendelian.

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.

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 Panel complete gene list SCP2, SLC10A1, SLC10A2, SLC25A13, SLC27A5, SMPD1, HNF1A, HNF1B, TJP2, UGT1A1, VPS33B, NEUROG3, ABCG5, ABCG8, NPC2, INVS, DCDC2, HSD3B7, CFTR, NPHP4, GPBAR1, CLDN1, VIPAS39, PEX26, TMEM216, CTRC, TRMU, CYP27A1, CYP7A1, CYP7B1, DGUOK, DHCR7, CC2D2A, EHHADH, EPHX1, FAH, ATP8B1, AKR1D1, ALDOB, ABCB11, ABCB4, AMACR, HSD17B4, ABCC2, JAG1, LIPA, ABCD3, MKS1, MPV17, MYO5B, NOTCH2, NPC1, NPHP1, NPHP3, NR1H4, ATP7B, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, SERPINA1, POLG, BAAT, PEX19, PEX2, PEX5 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 Panel complete gene list SLC25A13, TJP2, VPS33B, NPC2, HSD3B7, CFTR, CLDN1, VIPAS39, ATP8B1, AKR1D1, ABCB11, ABCB4, ABCC2, JAG1, LIPA, MYO5B, NOTCH2, NPC1, NR1H4, SERPINA1, BAAT 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 Panel complete gene list SLC25A13, TJP2, VPS33B, NPC2, HSD3B7, CFTR, CLDN1, VIPAS39, ATP8B1, AKR1D1, ABCB11, ABCB4, ABCC2, JAG1, LIPA, MYO5B, NOTCH2, NPC1, NR1H4, SERPINA1, BAAT 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 Panel complete gene list SLCO1B1, SLCO1B3, SLC25A13, SLC27A5, SMPD1, HNF1B, TJP2, UROD, UROS, VPS33B, NPC2, INVS, HSD3B7, CFTR, NPHP4, UTP4, CLDN1, VIPAS39, PEX26, CPOX, TMEM216, TRMU, CYP27A1, CYP7B1, DGUOK, DHCR7, CC2D2A, EPHX1, FAH, FECH, ATP8B1, AKR1D1, ALAD, ALAS2, GALT, ABCB11, ABCB4, HFE, HMBS, ABCC2, JAG1, LIPA, MKS1, MPV17, ASS1, MYO5B, NOTCH2, NPC1, NPHP1, NPHP3, NR1H4, ATP7B, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, SERPINA1, PKHD1, POLG, PPOX, BAAT, PEX2, PEX5 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 Panel complete gene list SLC25A13, SLC27A5, SMPD1, HNF1B, TJP2, UGT1A1, VPS33B, ABCG5, ABCG8, NPC2, INVS, HSD3B7, CFTR, NPHP4, CLDN1, VIPAS39, PEX26, TMEM216, TRMU, CYP27A1, CYP7A1, CYP7B1, DGUOK, DHCR7, CC2D2A, FAH, ATP8B1, AKR1D1, ABCB11, ABCB4, ABCC2, JAG1, LIPA, MKS1, MPV17, NOTCH2, NPC1, NPHP1, NPHP3, NR1H4, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, SERPINA1, PKHD1, POLG, BAAT, PEX19, PEX2, PEX5 Specificity 2 % Genes 100 %

You can get up to 8 more panels with our dedicated tool

Learn more

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 RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES ALPHA-1-ANTITRYPSIN DEFICIENCY; A1ATD MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34