NR1H4 gene related symptoms and diseases
All the information presented here about the NR1H4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NR1H4 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Jaundice | Very Common - Between 80% and 100% cases |
| Elevated hepatic transaminase | Very Common - Between 80% and 100% cases |
| Abnormality of the liver | Very Common - Between 80% and 100% cases |
| Cholestasis | Very Common - Between 80% and 100% cases |
| Intrahepatic cholestasis | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with NR1H4 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Failure to thrive
- Intraventricular hemorrhage
- Increased serum bile acid concentration during pregnancy
- Cholesterol gallstones
- Fetal distress
- Cholangitis
- Cholestatic liver disease
- Cholelithiasis
And 15 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NR1H4 gene
Here you will find a list of rare diseases related to the NR1H4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 5
Alternate names
PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 5 Is also known as nr1h4 deficiency, pfic5
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 ).
Most common symptoms of PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 5
- Failure to thrive
- Edema
- Jaundice
- Hypoglycemia
- Elevated hepatic transaminase
More info about PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 5
INTRAHEPATIC CHOLESTASIS OF PREGNANCY
Alternate names
INTRAHEPATIC CHOLESTASIS OF PREGNANCY Is also known as pregnancy-related cholestasis, gravidic intrahepatic cholestasis, recurrent intrahepatic cholestasis of pregnancy
Description
Intrahepatic cholestasis of pregnancy (ICP) is a cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery.
Most common symptoms of INTRAHEPATIC CHOLESTASIS OF PREGNANCY
- Pain
- Jaundice
- Elevated hepatic transaminase
- Abnormality of the liver
- Pruritus
More info about INTRAHEPATIC CHOLESTASIS OF PREGNANCY
Search interest in NR1H4
Potential gene panels for NR1H4 gene
Liver Diseases Panel by next-generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Liver Diseases Panel by next-generation sequencing (NGS) that also includes the following genes: SCP2 SLC10A1 SLC10A2 SLC25A13 SLC27A5 SMPD1 HNF1A HNF1B TJP2 UGT1A1
More info about this panel United States.
Cholestasis Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Cholestasis Seq + Del/Dup Panel that also includes the following genes: SLC25A13 TJP2 VPS33B NPC2 HSD3B7 CFTR CLDN1 VIPAS39 ATP8B1 AKR1D1
More info about this panel United States.
Cholestasis Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Cholestasis Del/Dup Panel that also includes the following genes: SLC25A13 TJP2 VPS33B NPC2 HSD3B7 CFTR CLDN1 VIPAS39 ATP8B1 AKR1D1
More info about this panel United States.
Cholestasis Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Cholestasis Sequencing Panel with CNV Detection that also includes the following genes: SLC25A13 TJP2 VPS33B HSD3B7 CLDN1 VIPAS39 ATP8B1 AKR1D1 ABCB11 ABCB4
More info about this panel United States.
Hepatic and pancreatic diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Hepatic and pancreatic diseases - panels that also includes the following genes: SLCO1B1 SLCO1B3 SLC25A13 SLC27A5 SMPD1 HNF1B TJP2 UROD UROS VPS33B
More info about this panel Germany.
Intrahepatic cholestasis of pregnancy, NR1H4 related Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the NR1H4 gene.
More info about this panel Germany.
Cholestasis, infantile, NR1H4 related Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the NR1H4 gene.
More info about this panel Germany.
Neonatal and Adult Cholestasis: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neonatal and Adult Cholestasis: Sequencing Panel that also includes the following genes: SLC25A13 SLC27A5 SMPD1 HNF1B TJP2 UGT1A1 VPS33B ABCG5 ABCG8 NPC2
More info about this panel United States.
NR1H4 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NR1H4 gene.
More info about this panel United States.
Cholestasis Panel Panel
Finland.
By Blueprint Genetics Cholestasis Panel that also includes the following genes: SLC25A13 SMPD1 SPINT2 EPCAM TJP2 UGT1A1 VPS33B NEUROG3 LMF1 NPC2
More info about this panel Finland.
Congenital Hepatic Fibrosis Panel Panel
Finland.
By Blueprint Genetics Congenital Hepatic Fibrosis Panel that also includes the following genes: CEP41 ARL6 NEK8 TMEM237 TRIM32 ZNF423 INVS DCDC2 WDR19 BBS7
More info about this panel Finland.
Progressive Familial Intrahepatic Cholestasis NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Progressive Familial Intrahepatic Cholestasis NGS and Deletion/Duplication Panel that also includes the following genes: TJP2 ATP8B1 ABCB11 ABCB4 MYO5B NR1H4
More info about this panel United States.
NR1H4 Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the NR1H4 gene.
More info about this panel United States.
Next Generation Sequencing for Jaundice Associated Genes Variation Test Panel
Taiwan.
By National Taiwan University Hospital A1 Center National Taiwan University Hospital Next Generation Sequencing for Jaundice Associated Genes Variation Test that also includes the following genes: BCS1L SCO1 SLC10A1 SLC40A1 SLCO1A2 SLCO1B1 SLCO1B3 SLCO2B1 SLC25A13 SUCLG1
More info about this panel Taiwan.
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC Panel
Spain.
By Laboratorio de Genetica Clinica SL CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC that also includes the following genes: TJP2 ATP8B1 ABCB11 ABCB4 NR1H4
More info about this panel Spain.
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC NGS PANEL that also includes the following genes: SLC25A13 TJP2 ATP8B1 ABCB11 ABCB4 NR1H4
More info about this panel Spain.
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