CYP7A1 gene related symptoms and diseases

All the information presented here about the CYP7A1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CYP7A1 gene

Symptoms // Phenotype % Cases
Obesity Very Common - Between 80% and 100% cases
Hepatic steatosis Very Common - Between 80% and 100% cases
Hepatitis Very Common - Between 80% and 100% cases
Hypertriglyceridemia Very Common - Between 80% and 100% cases
Cholestasis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CYP7A1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hypercholesterolemia
  • Coronary artery atherosclerosis
  • Increased LDL cholesterol concentration
  • Macrovesicular hepatic steatosis
  • Accelerated atherosclerosis
  • Acute hepatic steatosis
  • Cholesterol gallstones
  • Aortic atherosclerosis

And 2 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CYP7A1 gene

Here you will find a list of rare diseases related to the CYP7A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HYPERCHOLESTEROLEMIA DUE TO CHOLESTEROL 7ALPHA-HYDROXYLASE DEFICIENCY


Description

Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency is a rare, genetic, sterol metabolism disorder characterized by increased LDL cholesterol serum levels (which are resistant to treatment with 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors), hypertrigliceridemia, and decreased rate of bile acid excretion, resulting from cholesterol 7alpha-hydroxylase deficiency. Premature gallstone disease and/or premature coronary and peripheral vascular disease are frequently associated.

Most common symptoms of HYPERCHOLESTEROLEMIA DUE TO CHOLESTEROL 7ALPHA-HYDROXYLASE DEFICIENCY

  • Obesity
  • Hepatic steatosis
  • Hepatitis
  • Hypertriglyceridemia
  • Cholestasis


More info about HYPERCHOLESTEROLEMIA DUE TO CHOLESTEROL 7ALPHA-HYDROXYLASE DEFICIENCY

SOURCES: ORPHANET


Potential gene panels for CYP7A1 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

Dyslipidemia NGS panel (29 genes), Sequence & CNV analysis Panel

Netherlands.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam Dyslipidemia NGS panel (29 genes), Sequence & CNV analysis that also includes the following genes: SAR1B SLCO1B1 ABCG5 ABCG8 LMF1 SCARB1 APOA5 LDLRAP1 CETP PCSK9

More info about this panel

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

CYP7A1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CYP7A1 gene.

More info about this panel

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

FAMILIAL HYPERCHOLESTEROLEMIA Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL HYPERCHOLESTEROLEMIA that also includes the following genes: LDLRAP1 PCSK9 CYP7A1 LDLR

More info about this panel

FAMILIAL HYPOBETALIPOPROTEINEMIA/FAMILIAL HYPERCHOLESTEROLEMIA NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL FAMILIAL HYPOBETALIPOPROTEINEMIA/FAMILIAL HYPERCHOLESTEROLEMIA NGS PANEL that also includes the following genes: LDLRAP1 PCSK9 CYP7A1 ANGPTL3 LDLR MTTP

More info about this panel


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