Porphyria, Congenital Erythropoietic

Description

The porphyrias are diseases caused by defects in heme synthesis, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver (Gross et al., 2000).Desnick and Astrin (2002) provided a comprehensive review of congenital erythropoietic porphyria pathogenesis and treatment.One patient with a phenotype suggestive of congenital erythropoietic anemia was found to have a mutation in the GATA1 gene ({305371.0010}) that affected UROS expression (see XLTT, {314050}).

Clinical Features

Top most frequent phenotypes and symptoms related to Porphyria, Congenital Erythropoietic

  • Short stature
  • Anemia
  • Splenomegaly
  • Thrombocytopenia
  • Alopecia
  • Osteopenia
  • Jaundice
  • Hepatosplenomegaly
  • Scarring
  • Skin rash

And another 24 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available PORPHYRIA, CONGENITAL ERYTHROPOIETIC have a estimated prevalence of 0.13 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Porphyria, Congenital Erythropoietic Is also known as cep, uros deficiency, uroporphyrinogen iii synthase deficiency, gunther disease.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Porphyria, Congenital Erythropoietic Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Non-immune Hydrops Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...)

View the complete list with 66 more genes
Specificity
2 %
Genes
100 %
UROS. Complete sequencing.

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

UROS
Specificity
100 %
Genes
100 %
Porphyria congenital erythropoietic (sequence analysis of UROS gene).

By CGC Genetics (Portugal).

UROS
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 %
Congenital Erythropoietic Porphyria via UROS Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

UROS
Specificity
100 %
Genes
100 %
UROS.

By Department of Clinical Genetics St. Elisabeth Cancer Institute (Slovakia).

UROS
Specificity
100 %
Genes
100 %
Hepatic and pancreatic diseases - panels.

By MGZ Medical Genetics Center (Germany).

SLCO1B1, SLCO1B3, SLC25A13, SLC27A5, SMPD1, HNF1B, TJP2, UROD, UROS, VPS33B, NPC2, INVS, HSD3B7, CFTR, NPHP4, UTP4, CLDN1, VIPAS39, PEX26, CPOX , (...)

View the complete list with 49 more genes
Specificity
2 %
Genes
100 %

You can get up to 14 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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