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.

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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). Genetic Heterogeneity of Erythropoietic ProtoporphyriaAlso see X-linked erythropoietic protoporphyria (XLEPP ), caused by mutation in the ALAS2 gene (OMIM ) on chromosome Xp11, and EPP2 (OMIM ), caused by mutation in the CLPX gene (OMIM ) on chromosome 15q22.

Most common symptoms of PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1

  • Pain
  • Anemia
  • Edema
  • Thrombocytopenia
  • Jaundice


More info about PROTOPORPHYRIA, ERYTHROPOIETIC, 1; EPP1

SOURCES: OMIM


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

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

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

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

Erythropoietic protoporphyria (sequence analysis of FECH gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the FECH gene.

More info about this panel

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

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

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

FECH Panel

Slovakia.

By Department of Clinical Genetics St. Elisabeth Cancer Institute

This panel specifically test the FECH gene.

More info about this panel

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

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

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

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

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

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

FECH Panel

Austria.

By Division Human Genetics Medical University Innsbruck

This panel specifically test the FECH gene.

More info about this panel

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

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

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

FECH Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FECH gene.

More info about this panel

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

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

Protoporphyria, erythropoietic, autosomal recessive Panel

Spain.

By Bioarray

This panel specifically test the FECH gene.

More info about this panel

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

Erythropoietic Protoporphyria , Sequencing FECH Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the FECH gene.

More info about this panel

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

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

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

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


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