Acrodermatitis Enteropathica

Description

Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.

Clinical Features

Top most frequent phenotypes and symptoms related to Acrodermatitis Enteropathica

  • Short stature
  • Failure to thrive
  • Visual impairment
  • Alopecia
  • Cerebral cortical atrophy
  • Weight loss
  • Photophobia
  • Erythema
  • Malabsorption
  • Dry skin

And another 21 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.

Alternative names

Acrodermatitis Enteropathica Is also known as inherited zinc deficiency, aez, acrodermatitis enteropathica, zinc deficiency type.

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.

Acrodermatitis Enteropathica Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SLC39A4 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

SLC39A4
Specificity
100 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
SLC39A4. Complete sequencing.

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

SLC39A4
Specificity
100 %
Genes
100 %
Acrodermatitis enteropathica (sequence analysis of SLC39A4 gene).

By CGC Genetics (Portugal).

SLC39A4
Specificity
100 %
Genes
100 %
Acrodermatitis enteropathica /zinc transporter (SLC39A4).

By VU University Medical Center Metabolic Unit, PX 1X 009 (Netherlands).

SLC39A4
Specificity
100 %
Genes
100 %
Acrodermatitis enteropathica.

By Centogene AG - the Rare Disease Company (Germany).

SLC39A4
Specificity
100 %
Genes
100 %
Acrodermatitis Enteropathica, Zinc-Deficiency Type (SLC39A4).

By MVZ Dortmund Dr. Eberhard & Partner (Germany).

SLC39A4
Specificity
100 %
Genes
100 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL (Spain).

RMRP, RP2, RPE65, RPGR, RPS6KA3, RS1, SACS, SGCA, SGCB, SGSH, SLC16A2, SLC22A5, SLC25A13, SLC26A2, SLC3A1, SLC5A5, SLC6A8, KDM5C, SMN1, BTD , (...)

View the complete list with 278 more genes
Specificity
1 %
Genes
100 %

You can get up to 7 more panels with our dedicated tool

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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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