Hypercholesterolemia Due To Cholesterol 7alpha-hydroxylase Deficiency

Table of contents:

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

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.

Genes related to Hypercholesterolemia Due To Cholesterol 7alpha-hydroxylase Deficiency

CYP7A1

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Hypercholesterolemia Due To Cholesterol 7alpha-hydroxylase Deficiency

Obesity
Hepatic steatosis
Hepatitis
Hypertriglyceridemia
Cholestasis
Hypercholesterolemia
Coronary artery atherosclerosis
Increased LDL cholesterol concentration
Macrovesicular hepatic steatosis
Accelerated atherosclerosis

And another 5 symptoms. If you need more information about this disease we can help you.

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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.

Researches and researchers

Doctors, researchs, and experts related to Hypercholesterolemia Due To Cholesterol 7alpha-hydroxylase Deficiency extracted from public data.

Hypercholesterolemia Due To Cholesterol 7alpha-hydroxylase Deficiency Experts map

Current Researchs and researchers

PARIS — Pr Catherine BOILEAU
Clinical geneticist - Responsible for diagnostic tests - Investigator of research project - Director of laboratory
- Institution/s:
  — CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
  — Inserm U1148 Laboratoire de recherche vasculaire translationelle, CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
  — Service de cardiologie, CHU Paris Nord-Val de Seine - Hôpital Xavier Bichat-Claude Bernard
- Research area/topic::
  Genetic and physiopathology of rare forms of familial hypercholesterolemia

Hypercholesterolemia Due To Cholesterol 7alpha-hydroxylase Deficiency 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 %
Dyslipidemia NGS panel (29 genes), Sequence & CNV analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands). SAR1B, SLCO1B1, ABCG5, ABCG8, LMF1, SCARB1, APOA5, LDLRAP1, CETP, PCSK9, MYLIP, STAP1, GPIHBP1, CYP27A1, CYP7A1, ANGPTL3, APOC2, APOC3, APOE, LCAT , (...) View the complete list with 5 more genes Panel complete gene list SAR1B, SLCO1B1, ABCG5, ABCG8, LMF1, SCARB1, APOA5, LDLRAP1, CETP, PCSK9, MYLIP, STAP1, GPIHBP1, CYP27A1, CYP7A1, ANGPTL3, APOC2, APOC3, APOE, LCAT, LDLR, LIPA, LIPC, LIPG, MTTP Specificity 4 % 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 %
CYP7A1. By Fulgent Genetics Fulgent Genetics (United States). CYP7A1 Specificity 100 % Genes 100 %
Next Generation Sequencing for Jaundice Associated Genes Variation Test. By National Taiwan University Hospital A1 Center National Taiwan University Hospital (Taiwan). BCS1L, SCO1, SLC10A1, SLC40A1, SLCO1A2, SLCO1B1, SLCO1B3, SLCO2B1, SLC25A13, SUCLG1, TWNK, HNF1B, TFAM, TFR2, TJP2, UGT1A1, VPS33B, NPC2, HAMP, CD14 , (...) View the complete list with 53 more genes Panel complete gene list BCS1L, SCO1, SLC10A1, SLC40A1, SLCO1A2, SLCO1B1, SLCO1B3, SLCO2B1, SLC25A13, SUCLG1, TWNK, HNF1B, TFAM, TFR2, TJP2, UGT1A1, VPS33B, NPC2, HAMP, CD14, RRM2B, INVS, DCDC2, HSD3B7, CFTR, CLDN1, SEC63, COPA, CYP27A1, CYP7A1, CYP7B1, CHMP5, DGUOK, SLC51A, SLC51B, EPHX1, FGF19, ATP8B1, FOXM1, AKR1D1, FTL, ABCB1, G6PD, ABCB11, ABCB4, AMACR, HBA1, HBA2, HBB, HFE, HJV, HES1, ABCC2, ABCC3, ABCC4, JAG1, LIPA, MPV17, ASL, ASS1, MYO5B, NOTCH2, NPC1, NR1H4, ONECUT1, ATP7B, SERPINA1, PKD1, PKD2, PKHD1, POLG, BAAT, PRKCSH Specificity 2 % Genes 100 %
FAMILIAL HYPERCHOLESTEROLEMIA. By Laboratorio de Genetica Clinica SL (Spain). LDLRAP1, PCSK9, CYP7A1, LDLR Specificity 25 % Genes 100 %
FAMILIAL HYPOBETALIPOPROTEINEMIA/FAMILIAL HYPERCHOLESTEROLEMIA NGS PANEL. By Laboratorio de Genetica Clinica SL (Spain). LDLRAP1, PCSK9, CYP7A1, ANGPTL3, LDLR, MTTP Specificity 17 % Genes 100 %