Mal De Meleda

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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.

Genes related to Mal De Meleda

SLURP1

View recommended genes panels

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

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 Panel complete gene list SLC27A4, SNAP29, ST14, STS, TAT, TGM1, TGM5, VPS33B, ATP2C1, NSDHL, ALOXE3, WNT10A, SERPINB7, ELOVL4, ABCA12, MBTPS2, SPINK5, CARD14, CDSN, TRPV3, SLURP1, CLDN1, POMP, SUMF1, KRT6C, RHBDF2, GTF2H5, PNPLA1, ABHD5, LIPN, CERS3, CSTA, CTSC, AAGAB, CYP4F22, NIPAL4, DSG1, DSP, EBP, ENPP1, ERCC2, ERCC3, FLG, ALDH3A2, ALMS1, GJB2, GJB4, GJB6, ALOX12B, AP1S1, JUP, AQP5, KRT1, KRT10, KRT14, KRT16, KRT17, KRT2, KRT6A, KRT6B, KRT9, LOR, ATP2A2, PHYH Specificity 2 % Genes 100 %
SLURP1. By Division Human Genetics Medical University Innsbruck (Austria). SLURP1 Specificity 100 % Genes 100 %