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.
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).
Most common symptoms of HELLP SYNDROME
- Seizures
- Hypertension
- Intrauterine growth retardation
- Edema
- Renal insufficiency
More info about HELLP SYNDROME
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
Search interest in EPHX1
Potential gene panels for EPHX1 gene
EPHX1 Sequencing Panel
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 panelLiver Diseases Panel by next-generation sequencing (NGS) Panel
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 panelHepatic and pancreatic diseases - panels Panel
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 panelEPHX1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the EPHX1 gene.
More info about this panelEPHX1 Gene Sequencing and Deletion/Duplication Analysis Panel
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the EPHX1 gene.
More info about this panelNext Generation Sequencing for Jaundice Associated Genes Variation Test Panel
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 panelAbnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes Panel
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 panelEpilepsy Gene mutation panel Panel
By Molecular Diagnostics Children's Hospital of Wisconsin Epilepsy Gene mutation panel that also includes the following genes: CYP2C19 CYP2C9 EPHX1
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