SLC40A1 gene related symptoms and diseases
All the information presented here about the SLC40A1 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 SLC40A1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Pain | Very Common - Between 80% and 100% cases |
| Hepatic steatosis | Very Common - Between 80% and 100% cases |
| Increased serum ferritin | Very Common - Between 80% and 100% cases |
| Joint swelling | Very Common - Between 80% and 100% cases |
| Generalized hyperpigmentation | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SLC40A1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Impotence
- Glucose intolerance
- Joint dislocation
- Hepatic fibrosis
- Osteoarthritis
- Limitation of joint mobility
- Cirrhosis
- Cataract
And 10 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SLC40A1 gene
Here you will find a list of rare diseases related to the SLC40A1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HEMOCHROMATOSIS TYPE 4
Alternate names
HEMOCHROMATOSIS TYPE 4 Is also known as autosomal dominant hereditary hemochromatosis, hemochromatosis due to defect in ferroportin, hemochromatosis, autosomal dominant, ferroportin disease
Description
Hemochromatosis type 4 (also called ferroportin disease) is a 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 4
- Pain
- Cataract
- Anemia
- Fatigue
- Respiratory distress
More info about HEMOCHROMATOSIS TYPE 4
Search interest in SLC40A1
Potential gene panels for SLC40A1 gene
SLC40A1 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 SLC40A1 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.
SLC40A1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SLC40A1 gene.
More info about this panel Spain.
Hereditary Hemochromatosis type 4 (sequence analysis of SLC40A1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SLC40A1 gene.
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.
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.
Hereditary Hemochromatosis via SLC40A1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SLC40A1 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 4 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SLC40A1 gene.
More info about this panel Germany.
SLC40A1-Related Hereditary Hemochromatosis Panel
Italy.
By Medical Genetics Laboratory Bambino Gesù Children's Hospital
This panel specifically test the SLC40A1 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 SLC40A1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the SLC40A1 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.
SLC40A1-Related Hereditary Hemochromatosis (Ferroportin disease) Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the SLC40A1 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.
SLC40A1-Related Hereditary Hemochromatosis Panel
Netherlands.
By Clinical Genomics Maastricht University Medical Centre
This panel specifically test the SLC40A1 gene.
More info about this panel Netherlands.
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 4, Hereditary: SLC40A1 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the SLC40A1 gene.
More info about this panel Spain.
SLC40A1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC40A1 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 type 4 Panel
Spain.
By Bioarray
This panel specifically test the SLC40A1 gene.
More info about this panel Spain.
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.
SLC40A1 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 SLC40A1 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 4 Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the SLC40A1 gene.
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 4 Panel
Canada.
By LifeLabs Genetics
This panel specifically test the SLC40A1 gene.
More info about this panel Canada.
Hemochromatosis Type 4, Sequencing SLC40A1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SLC40A1 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 4 Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the SLC40A1 gene.
More info about this panel Germany.
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