Autosomal Erythropoietic Protoporphyria

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.

Clinical Features

Phenotypes and symptoms related to Autosomal Erythropoietic Protoporphyria

  • Edema
  • Erythema
  • Pruritus
  • Cirrhosis
  • Eczema
  • Cutaneous photosensitivity
  • Decreased liver function
  • Cholelithiasis
  • Microcytic anemia
  • Abnormality of the heme biosynthetic pathway

Incidence and onset information

— Based on the latest data available AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA have a estimated incidence of 0.012 per 100k worldwide.
No data available about the known clinical features onset.

Researches and researchers

Doctors, researchs, and experts related to Autosomal Erythropoietic Protoporphyria extracted from public data.

Autosomal Erythropoietic Protoporphyria Experts map



Current Researchs and researchers

  • MILANO — Dr Elena DI PIERRO

    Responsible for diagnostic tests - Investigator of research project

    • Institution/s:
      — Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
    • Research area/topic::

      Next-generation sequencing to study the penetrance of dominantly inherited porphyrias



Mendelian

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Autosomal Erythropoietic Protoporphyria Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
FECH. Detection of the mutation c.315-48T>C by sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

FECH
Specificity
100 %
Genes
100 %
FECH. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

FECH
Specificity
100 %
Genes
100 %
FECH. MLPA testing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

FECH
Specificity
100 %
Genes
100 %
Erythropoietic protoporphyria (sequence analysis of FECH gene).

By CGC Genetics (Portugal).

FECH
Specificity
100 %
Genes
100 %
Porphyria Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

UROD, UROS, CPOX, FECH, ALAD, ALAS2, HMBS, PPOX
Specificity
13 %
Genes
100 %
Chronic/Cutaneous Porphyria Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

UROD, UROS, CPOX, FECH, ALAS2, PPOX
Specificity
17 %
Genes
100 %
Erythropoietic Protoporphyria via FECH Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

FECH
Specificity
100 %
Genes
100 %

We have 21 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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