FECH gene related symptoms and diseases
All the information presented here about the FECH gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to FECH gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Edema | Very Common - Between 80% and 100% cases |
| Decreased liver function | Very Common - Between 80% and 100% cases |
| Erythema | Very Common - Between 80% and 100% cases |
| Cholelithiasis | Very Common - Between 80% and 100% cases |
| Microcytic anemia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with FECH gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Cutaneous photosensitivity
- Eczema
- Pruritus
Not very common - Between 30% and 50% cases
- Acute hepatic failure
- Hepatic failure
- Cholestasis
- Inflammatory abnormality of the skin
- Hypertriglyceridemia
And 15 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to FECH gene
Here you will find a list of rare diseases related to the FECH. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA
Alternate names
AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA Is also known as epp
Description
Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.
Most common symptoms of AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA
- Edema
- Erythema
- Pruritus
- Cirrhosis
- Eczema
More info about AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA
SOURCES: ORPHANET
PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1
Alternate names
PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1 Is also known as ferrochelatase deficiency, protoporphyria, erythropoietic, heme synthetase deficiency, erythrohepatic protoporphyria, epp
Description
Erythropoietic protoporphyria-1 is an inborn error of porphyrin metabolism caused by decreased activity of the enzyme ferrochelatase, the terminal enzyme of the heme biosynthetic pathway, which catalyzes the insertion of iron into protoporphyrin to form heme. EPP is characterized clinically by photosensitivity to visible light commencing in childhood, and biochemically by elevated red cell protoporphyrin levels (Todd, 1994).
Most common symptoms of PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1
- Pain
- Anemia
- Edema
- Thrombocytopenia
- Jaundice
More info about PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1
SOURCES: OMIM
Search interest in FECH
Potential gene panels for FECH gene
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel United States.
FECH. Detection of the mutation c.315-48T>C by sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the FECH gene.
More info about this panel Spain.
FECH. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the FECH gene.
More info about this panel Spain.
FECH. MLPA testing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the FECH gene.
More info about this panel Spain.
Erythropoietic protoporphyria (sequence analysis of FECH gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the FECH gene.
More info about this panel Portugal.
Porphyria Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Porphyria Sequencing Panel with CNV Detection that also includes the following genes: UROD UROS CPOX FECH ALAD ALAS2 HMBS PPOX
More info about this panel United States.
Chronic/Cutaneous Porphyria Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Chronic/Cutaneous Porphyria Sequencing Panel with CNV Detection that also includes the following genes: UROD UROS CPOX FECH ALAS2 PPOX
More info about this panel United States.
Erythropoietic Protoporphyria via FECH Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the FECH gene.
More info about this panel United States.
FECH Panel
Slovakia.
By Department of Clinical Genetics St. Elisabeth Cancer Institute
This panel specifically test the FECH gene.
More info about this panel Slovakia.
Hepatic and pancreatic diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Hepatic and pancreatic diseases - panels that also includes the following genes: SLCO1B1 SLCO1B3 SLC25A13 SLC27A5 SMPD1 HNF1B TJP2 UROD UROS VPS33B
More info about this panel Germany.
Comprehensive mitochondrial disorders panel Panel
Germany.
By Centogene AG - the Rare Disease Company Comprehensive mitochondrial disorders panel that also includes the following genes: RNASEL BCS1L MRPL3 SARDH SCO1 SCO2 SCP2 SDHA SDHB SDHC
More info about this panel Germany.
Erythropoietic Protoporphyria Panel
Italy.
By Medical Genetics Laboratory Bambino Gesù Children's Hospital
This panel specifically test the FECH gene.
More info about this panel Italy.
Erythropoietic Protoporphyria, Autosomal Recessive - FECH Panel
Sweden.
By Centre for Inherited Metabolic Diseases Karolinska University Hospital
This panel specifically test the FECH gene.
More info about this panel Sweden.
Porphyria Panel
Estonia.
By Asper Biogene Asper Biogene LLC Porphyria that also includes the following genes: UROD UROS CPOX FECH ALAD ALAS2 HFE HMBS PPOX
More info about this panel Estonia.
NGS Panel for Erythropoietic protoporphyria and congenital erythropoietic porphyria Panel
Spain.
By BLOODGENETICS BLOODGENETICS NGS Panel for Erythropoietic protoporphyria and congenital erythropoietic porphyria that also includes the following genes: UROS CLPX FECH ALAS2
More info about this panel Spain.
FECH Panel
Austria.
By Division Human Genetics Medical University Innsbruck
This panel specifically test the FECH gene.
More info about this panel Austria.
Erythropoietic protoporphyria: FECH deletions-duplications analysis (MLPA) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the FECH gene.
More info about this panel Spain.
Erythropoietic protoporphyria: FECH gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the FECH gene.
More info about this panel Spain.
Nuclear-Mito NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7
More info about this panel United States.
FECH Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FECH gene.
More info about this panel United States.
Porphyria Panel Panel
Finland.
By Blueprint Genetics Porphyria Panel that also includes the following genes: UROD UROS CPOX FECH ALAD ALAS2 HFE HMBS PPOX
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.
Protoporphyria, erythropoietic, autosomal recessive Panel
Spain.
By Bioarray
This panel specifically test the FECH gene.
More info about this panel Spain.
ERYTHROPOIETIC PROTOPORPHYRIA Panel
Spain.
By Laboratorio de Genetica Clinica SL ERYTHROPOIETIC PROTOPORPHYRIA that also includes the following genes: FECH ALAS2
More info about this panel Spain.
Erythropoietic Protoporphyria , Sequencing FECH Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the FECH gene.
More info about this panel Spain.
Erythropoietic Protoporphyria , Deletions-Duplications (MLPA) FECH Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the FECH gene.
More info about this panel Spain.
Porphyria Related Diseases , Panel Massive Sequencing (NGS) 7 Genes Panel
Spain.
By Reference Laboratory Genetics Porphyria Related Diseases , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: UROD UROS CPOX FECH ALAD HMBS PPOX
More info about this panel Spain.
Erythropoietic Protoporphyria, Autosomal Recessive: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the FECH gene.
More info about this panel Canada.
Erythropoietic Protoporphyria, Autosomal Recessive: gene deletion/duplication Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the FECH gene.
More info about this panel Canada.
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