Hepatoerythropoietic Porphyria

Description

Hepatoerythropioetic porphyria (HEP) is a very rare form of chronic hepatic porphyria (see this term) characterized by bullous photodermatitis.

Clinical Features

Phenotypes and symptoms related to Hepatoerythropoietic Porphyria

  • Hemolytic anemia
  • Cutaneous photosensitivity
  • Thin skin

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

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.


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Hepatoerythropoietic Porphyria Recommended genes panels

Panel Name, Specifity and genes Tested/covered
UROD. Complete sequencing.

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

UROD
Specificity
100 %
Genes
100 %
Porphyria cutanea tarda (sequence analysis of UROD gene).

By CGC Genetics (Portugal).

UROD
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 %
Porphyria Cutanea Tarda Type II/Hepatoerythropoietic Porphyria via UROD Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

UROD
Specificity
100 %
Genes
100 %
ENG.

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

UROD
Specificity
100 %
Genes
100 %
UROD.

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

UROD
Specificity
100 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

BCS1L, ROBO2, CNNM2, CFB, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHA, SDHB, SDHC, SDHD, BMP4, BMP7, SGPL1, SIX1, SIX2, SIX5 , (...)

View the complete list with 386 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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