Dowling-degos Disease 4; Ddd4

Clinical Features

Phenotypes and symptoms related to Dowling-degos Disease 4; Ddd4

  • Hyperhidrosis
  • Papule
  • Pruritus
  • Epidermal acanthosis
  • Hypergranulosis
  • Acantholysis

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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Dowling-degos Disease 4; Ddd4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
POGLUT1.

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

POGLUT1
Specificity
100 %
Genes
100 %
Genetic disorders with abnormal pigmentation Panel.

By CeGaT GmbH (Germany).

BLM, SLC40A1, SNAI2, SOX10, STK11, TFR2, POFUT1, HAMP, ADAM10, LYST, SPRED1, ADAR, POGLUT1, EPG5, MLPH, EDN3, EDNRB, ENPP1, ABCB6, HFE , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
POGLUT1.

By Fulgent Genetics Fulgent Genetics (United States).

POGLUT1
Specificity
100 %
Genes
100 %
LGMD and Congenital Muscular Dystrophy Panel.

By Blueprint Genetics (Finland).

SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CAPN3, DNAJB6, CAV3, SELENON, LIMS2, TRIM32, SPEG, SYNE1, TNPO3, FKRP, COL4A1, COL4A2, VMA21 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Comprehensive Muscular Dystrophy / Myopathy Panel.

By Blueprint Genetics (Finland).

SGCA, SGCB, SGCD, SGCG, TCAP, TNNT1, TPM2, TPM3, MYOT, TTN, ACTA1, CAPN3, DNAJB6, CAV3, MICU1, LDB3, RBCK1, SELENON, LIMS2, TRIM32 , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
Dowling-Degos Disease Type 4 , Sequencing POGLUT1 Gene.

By Reference Laboratory Genetics (Spain).

POGLUT1
Specificity
100 %
Genes
100 %
Dowling-Degos Disease , Panel Massive Sequencing (NGS) 6 Genes.

By Reference Laboratory Genetics (Spain).

POFUT1, ADAM10, ADAR, POGLUT1, KRT14, KRT5
Specificity
17 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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