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.
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
Search interest in HJV
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 United States.
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 Argentina.
Juvenile Hemochromatosis Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the HJV gene.
More info about this panel Canada.
Hemochromatosis type 2A Panel
Switzerland.
By Human Genetics University Hospital Bern
This panel specifically test the HJV gene.
More info about this panel Switzerland.
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 Spain.
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 Portugal.
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 Portugal.
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 United States.
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 United States.
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 Germany.
Hemochromatosis type 2A Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the HJV gene.
More info about this panel Germany.
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 Italy.
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 Germany.
Single gene testing HFE2 Panel
Germany.
By CeGaT GmbH
This panel specifically test the HJV gene.
More info about this panel Germany.
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 Poland.
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 Germany.
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 Estonia.
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 Spain.
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 Netherlands.
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 Spain.
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 United States.
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 Spain.
HFE2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HJV gene.
More info about this panel United States.
H-CHROMATON Panel
Hungary.
By PentaCoreLab H-CHROMATON that also includes the following genes: SLC40A1 HAMP HFE HJV
More info about this panel Hungary.
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 Finland.
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 Finland.
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 United States.
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 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.
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 Spain.
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 Spain.
Hemochromatosis type 2A Panel
Canada.
By LifeLabs Genetics
This panel specifically test the HJV gene.
More info about this panel Canada.
Hemochromatosis Type 2, Sequencing HFE2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the HJV gene.
More info about this panel Spain.
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 Spain.
Hemochromatosis type 2A Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the HJV gene.
More info about this panel Germany.
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 Canada.
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