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  2. Rare Disease Genes
  3. EPHX1

EPHX1 gene related symptoms and diseases

All the information presented here about the EPHX1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to EPHX1 gene

Symptoms // Phenotype % Cases
Seizures Uncommon - Between 30% and 50% cases
Abnormality of the liver Uncommon - Between 30% and 50% cases
Vitamin K deficiency Uncommon - Between 30% and 50% cases
Chronic hepatitis Uncommon - Between 30% and 50% cases
Fat malabsorption Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with EPHX1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Not very common - Between 30% and 50% cases

  • Steatorrhea
  • Abnormality of the coagulation cascade
  • Rickets
  • Cholestasis
  • Hepatitis
  • Malabsorption
  • Pruritus
  • Failure to thrive

And 13 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to EPHX1 gene

Here you will find a list of rare diseases related to the EPHX1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HELLP SYNDROME

Alternate names

HELLP SYNDROME Is also known as hemolysis-elevated liver enzymes-low platelets syndrome, toxemia of pregnancy, hemolysis, elevated liver enzymes, low platelets in pregnancy, preg1, pee

Description

Preeclampsia, which along with chronic hypertension and gestational hypertension comprise the hypertensive disorders of pregnancy, is characterized by new hypertension (blood pressure 140/90 or greater) presenting after 20 weeks' gestation with clinically relevant proteinuria. Preeclampsia is 1 of the top 4 causes of maternal mortality and morbidity worldwide (summary by Payne et al., 2011).Preeclampsia is otherwise known as gestational proteinuric hypertension (Davey and MacGillivray, 1988). A high proportion of patients with preeclampsia have glomerular endotheliosis, the unique histopathologic feature of the condition (Fisher et al., 1981). A distinct form of severe preeclampsia is characterized by hemolysis, elevated liver enzymes, and low platelets (HELLP syndrome) (Brown et al., 2000). Genetic Heterogeneity of Preeclampsia/EclampsiaSusceptibility loci for preeclampsia/eclampsia include PEE1 on chromosome 2p13, PEE2 (OMIM ) on chromosome 2p25, and PEE3 (OMIM ) on chromosome 9p13. PEE4 (OMIM ) is caused by mutation in the STOX1 gene (OMIM ) on chromosome 10q22. PEE5 (OMIM ) is caused by mutation in the CORIN gene (OMIM ) on chromosome 4p12. An association with PEE has been found with the EPHX1 gene (OMIM ) on chromosome 1q.

Most common symptoms of HELLP SYNDROME

  • Seizures
  • Hypertension
  • Intrauterine growth retardation
  • Edema
  • Renal insufficiency


More info about HELLP SYNDROME

SOURCES: OMIM ORPHANET MESH

FAMILIAL HYPERCHOLANEMIA

Alternate names

FAMILIAL HYPERCHOLANEMIA Is also known as hereditary hypercholanemia

Description

Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent.

Most common symptoms of FAMILIAL HYPERCHOLANEMIA

  • Failure to thrive
  • Abnormality of the liver
  • Pruritus
  • Malabsorption
  • Hepatitis


More info about FAMILIAL HYPERCHOLANEMIA

SOURCES: OMIM MESH ORPHANET


Potential gene panels for EPHX1 gene

EPHX1 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the EPHX1 gene.

More info about this panel
United States.

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.

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.

EPHX1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the EPHX1 gene.

More info about this panel
United States.

EPHX1 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 EPHX1 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.

Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes Panel

Spain.

By Reference Laboratory Genetics Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes that also includes the following genes: SLC34A1 SLC9A3R1 TJP2 VDR CASR ANKH CLCN5 SLC34A3 CYP2R1 FAM20C

More info about this panel
Spain.

Epilepsy Gene mutation panel Panel

United States.

By Molecular Diagnostics Children's Hospital of Wisconsin Epilepsy Gene mutation panel that also includes the following genes: CYP2C19 CYP2C9 EPHX1

More info about this panel
United States.

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