HJV gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to HJV gene

Symptoms // Phenotype % Cases
Muscle weakness Very Common - Between 80% and 100% cases
Arthropathy Very Common - Between 80% and 100% cases
Amenorrhea Very Common - Between 80% and 100% cases
Hyperpigmentation of the skin Very Common - Between 80% and 100% cases
Hypogonadotrophic hypogonadism Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Azoospermia
  • Portal hypertension
  • Impotence
  • Generalized hyperpigmentation
  • Infertility
  • Increased serum ferritin
  • Congenital hepatic fibrosis
  • Increased serum iron

And 22 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to HJV gene

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


HEMOCHROMATOSIS TYPE 2


Alternate names

HEMOCHROMATOSIS TYPE 2 Is also known as juvenile hemochromatosis

Description

Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

Most common symptoms of HEMOCHROMATOSIS TYPE 2

  • Muscle weakness
  • Pain
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


More info about HEMOCHROMATOSIS TYPE 2

SOURCES: OMIM ORPHANET


Potential gene panels for HJV gene

HFE2 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 HJV gene.

More info about this panel

Hyperferritinemia Panel Panel

Argentina.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Hyperferritinemia Panel that also includes the following genes: SEC23B SLC40A1 TF TFR2 HAMP CDAN1 CP STEAP3 SLC25A38 ALAS2

More info about this panel

Juvenile Hemochromatosis Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the HJV gene.

More info about this panel

Hemochromatosis type 2A Panel

Switzerland.

By Human Genetics University Hospital Bern

This panel specifically test the HJV gene.

More info about this panel

HFE2. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the HJV gene.

More info about this panel

Hemochromatosis (NGS panel for 8 genes) Panel

Portugal.

By CGC Genetics Hemochromatosis (NGS panel for 8 genes) that also includes the following genes: BMP2 SLC40A1 TFR2 HAMP FTH1 FTL HFE HJV

More info about this panel

Hemochromatosis (NGS panel for 8 genes) Panel

Portugal.

By CGC Genetics Hemochromatosis (NGS panel for 8 genes) that also includes the following genes: BMP2 SLC40A1 TFR2 HAMP FTH1 FTL HFE HJV

More info about this panel

Hereditary Hemochromatosis Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hereditary Hemochromatosis Sequencing Panel with CNV Detection that also includes the following genes: SLC40A1 TFR2 HAMP FTH1 FTL HFE HJV

More info about this panel

Juvenile Hereditary Hemochromatosis via HFE2 (HJV) Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the HJV gene.

More info about this panel

Hemochromatosis Panel

Germany.

By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München Hemochromatosis that also includes the following genes: SLC40A1 TFR2 HAMP HFE HJV

More info about this panel

Hemochromatosis type 2A Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the HJV gene.

More info about this panel

HFE2 (HJV)-related Hemochromatosis Panel

Italy.

By Medical Genetics Laboratory Bambino Gesù Children's Hospital

This panel specifically test the HJV gene.

More info about this panel

Genetic disorders with abnormal pigmentation Panel Panel

Germany.

By CeGaT GmbH Genetic disorders with abnormal pigmentation Panel that also includes the following genes: BLM SLC40A1 SNAI2 SOX10 STK11 TFR2 POFUT1 HAMP ADAM10 LYST

More info about this panel

Single gene testing HFE2 Panel

Germany.

By CeGaT GmbH

This panel specifically test the HJV gene.

More info about this panel

Haemochromatosis Panel

Poland.

By Laboratory of Human Genetics GENOMED Health Care Center Haemochromatosis that also includes the following genes: SLC40A1 TFR2 HAMP HFE HJV

More info about this panel

Juvenile Hemochromatosis type 2A (HFE2, HJV) Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the HJV gene.

More info about this panel

Hemochromatosis Panel

Estonia.

By Asper Biogene Asper Biogene LLC Hemochromatosis that also includes the following genes: SLC40A1 TFR2 HAMP HFE HJV

More info about this panel

NGS Panel for Hemochromatosis and Hyperferritinemia /Hypoferritinemia Panel Panel

Spain.

By BLOODGENETICS BLOODGENETICS NGS Panel for Hemochromatosis and Hyperferritinemia /Hypoferritinemia Panel that also includes the following genes: BMP6 SLC40A1 TFR2 HAMP FTH1 FTL HFE HJV ATP4A

More info about this panel

HJV (HFE2)-Related Juvenile Hemochromatosis Panel

Netherlands.

By Clinical Genomics Maastricht University Medical Centre

This panel specifically test the HJV gene.

More info about this panel

qCarrier Plus Panel

Spain.

By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH

More info about this panel

Invitae Hereditary Hemochromatosis Panel Panel

United States.

By Invitae Invitae Hereditary Hemochromatosis Panel that also includes the following genes: SLC40A1 TFR2 HAMP HFE HJV

More info about this panel

Hemochromatosis type 2, Hereditary: HJV gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the HJV gene.

More info about this panel

HFE2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HJV gene.

More info about this panel

H-CHROMATON Panel

Hungary.

By PentaCoreLab H-CHROMATON that also includes the following genes: SLC40A1 HAMP HFE HJV

More info about this panel

Hereditary Hemochromatosis Panel Panel

Finland.

By Blueprint Genetics Hereditary Hemochromatosis Panel that also includes the following genes: SLC40A1 TFR2 HAMP HFE HJV

More info about this panel

Comprehensive Metabolism Panel Panel

Finland.

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3

More info about this panel

Hemochromatosis NGS and Deletion and Duplication Panel Panel

United States.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Hemochromatosis NGS and Deletion and Duplication Panel that also includes the following genes: SLC40A1 TFR2 HAMP FTH1 FTL HFE HJV

More info about this panel

HFE2 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 HJV 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

HEMOCHROMATOSIS TYPE 2 Panel

Spain.

By Laboratorio de Genetica Clinica SL HEMOCHROMATOSIS TYPE 2 that also includes the following genes: HAMP HJV

More info about this panel

HEMOCHROMATOSIS NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL HEMOCHROMATOSIS NGS PANEL that also includes the following genes: BMP6 SLC40A1 TFR2 HAMP FTH1 FTL HFE HJV

More info about this panel

Hemochromatosis type 2A Panel

Canada.

By LifeLabs Genetics

This panel specifically test the HJV gene.

More info about this panel

Hemochromatosis Type 2, Sequencing HFE2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the HJV gene.

More info about this panel

Hereditary Hemochromatosis , Panel Massive Sequencing (NGS) 6 Genes Panel

Spain.

By Reference Laboratory Genetics Hereditary Hemochromatosis , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: SLC40A1 TFR2 HAMP FTH1 HFE HJV

More info about this panel

Hemochromatosis type 2A Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the HJV gene.

More info about this panel

Juvenile Hereditary Hemochromatosis: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Juvenile Hereditary Hemochromatosis: gene sequencing panel that also includes the following genes: HAMP HJV

More info about this panel


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