HAMP gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to HAMP gene

Symptoms // Phenotype % Cases
Cirrhosis Very Common - Between 80% and 100% cases
Hepatomegaly Very Common - Between 80% and 100% cases
Splenomegaly Very Common - Between 80% and 100% cases
Elevated hepatic transaminase Very Common - Between 80% and 100% cases
Abnormality of the liver Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

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

  • Anemia
  • Increased serum ferritin
  • Arthritis
  • Abnormality of iron homeostasis
  • Hypogonadism
  • Osteoporosis
  • Increased serum iron
  • Congestive heart failure

And 120 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to HAMP gene

Here you will find a list of rare diseases related to the HAMP. 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

HEMOCHROMATOSIS, TYPE 2B; HFE2B


Description

Juvenile, or type 2, hemochromatosis is an autosomal recessive inborn error of iron metabolism that leads to severe iron loading and organ failure before 30 years of age (summary by Roetto et al., 1999). HFE2B is caused by mutation in the HAMP gene (OMIM ). HFE2 is genetically heterogeneous (see HFE2A, {602390}).

Most common symptoms of HEMOCHROMATOSIS, TYPE 2B; HFE2B

  • Anemia
  • Hepatomegaly
  • Cardiomyopathy
  • Congestive heart failure
  • Splenomegaly


More info about HEMOCHROMATOSIS, TYPE 2B; HFE2B

SOURCES: OMIM MESH

WILSON DISEASE


Alternate names

WILSON DISEASE Is also known as wd, hepatolenticular degeneration, wnd

Description

Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

Most common symptoms of WILSON DISEASE

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Spasticity


More info about WILSON DISEASE

SOURCES: MESH OMIM ORPHANET


Potential gene panels for HAMP gene

HAMP 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 HAMP 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

Hemochromatosis type 2B (sequence analysis of HAMP gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the HAMP 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

HAMP Sequencing Analysis Panel

Netherlands.

By Translational Metabolic Laboratory Radboud University Medical Centre

This panel specifically test the HAMP gene.

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 HAMP Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the HAMP 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 2B Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the HAMP gene.

More info about this panel

HAMP-Related Juvenile Hemochromatosis Panel

Italy.

By Medical Genetics Laboratory Bambino Gesù Children's Hospital

This panel specifically test the HAMP 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

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

HAMP-Related Juvenile Hemochromatosis (type 2B) Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the HAMP 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

HAMP-Related Juvenile Hemochromatosis Panel

Netherlands.

By Clinical Genomics Maastricht University Medical Centre

This panel specifically test the HAMP gene.

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: HAMP gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the HAMP gene.

More info about this panel

HAMP Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HAMP 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

HAMP 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 HAMP 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 2, Sequencing HAMP Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the HAMP 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 2B Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the HAMP 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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PROZ

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more