Mal De Meleda

Description

Mal de Meleda (MdM) is a diffuse palmoplantar keratoderma, initially reported in the Island of Meleda, characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgrediens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema.

Clinical Features

Top most frequent phenotypes and symptoms related to Mal De Meleda

  • Brachydactyly
  • Hyperhidrosis
  • Hyperkeratosis
  • Erythema
  • Ichthyosis
  • Palmoplantar keratoderma
  • Palmoplantar hyperkeratosis
  • Abnormality of the mouth
  • Fragile nails
  • Subungual hyperkeratosis

And another 6 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 MAL DE MELEDA have a estimated prevalence of 1 per 100k in Europe.
No data available about the known clinical features onset.

Alternative names

Mal De Meleda Is also known as keratosis palmoplantaris transgrediens of siemens, meleda disease, transgrediens palmoplantar keratoderma of siemens.

Researches and researchers

Doctors, researchs, and experts related to Mal De Meleda extracted from public data.

Mal De Meleda Experts map



Current Researchs and researchers

  • KÖLN — Dr Hans Christian HENNIES

    Responsible for diagnostic tests - Investigator of research project - Manager of registry - Coordinator of research network - Director of laboratory

    • Institution/s:
      — Cologne Center for Genomics (CCG) der Universität zu Köln
    • Research area/topic::

      Palmoplantar keratodermas: Identification of candidate genes, mutation analysis and expression profiling



Mendelian

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Mal De Meleda Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SLURP1.

By Institute for Human Genetics University Clinic Freiburg (Germany).

SLURP1
Specificity
100 %
Genes
100 %
SLURP1. Complete sequencing.

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

SLURP1
Specificity
100 %
Genes
100 %
Meleda disease (sequence analysis of SLURP1 gene).

By CGC Genetics (Portugal).

SLURP1
Specificity
100 %
Genes
100 %
Hereditary ichthyosis (NGS panel of 53 genes).

By CGC Genetics (Portugal).

SLC27A4, SNAP29, ST14, STIM1, STS, TGM1, TGM5, SHOC2, SPINK5, SLURP1, RIN2, PSAT1, POMP, VIPAS39, SUMF1, PNPLA1, SRD5A3, PIGL
Specificity
6 %
Genes
100 %
Hereditary ichthyosis (NGS panel of 53 genes).

By CGC Genetics (Portugal).

SLC27A4, SNAP29, ST14, STIM1, STS, TGM1, TGM5, SHOC2, SPINK5, SLURP1, RIN2, PSAT1, POMP, VIPAS39, SUMF1, PNPLA1, SRD5A3, PIGL
Specificity
6 %
Genes
100 %
Mal de Meleda.

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

SLURP1
Specificity
100 %
Genes
100 %
Ichthyoses and related disorders of cornification Panel.

By CeGaT GmbH (Germany).

SLC27A4, SNAP29, ST14, STS, TAT, TGM1, TGM5, VPS33B, ATP2C1, NSDHL, ALOXE3, WNT10A, SERPINB7, ELOVL4, ABCA12, MBTPS2, SPINK5, CARD14, CDSN, TRPV3 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
100 %
SLURP1.

By Division Human Genetics Medical University Innsbruck (Austria).

SLURP1
Specificity
100 %
Genes
100 %

We have 6 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

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