Darier Disease

Description

Darier disease (DD) is a keratinization disorder characterized by the development of keratotic papules in seborrheic areas and specific nail anomalies.

Clinical Features

Top most frequent phenotypes and symptoms related to Darier Disease

  • Intellectual disability
  • Seizures
  • Pain
  • Intellectual disability, mild
  • Hyperhidrosis
  • Hyperkeratosis
  • Papule
  • Pruritus
  • Abnormality of skin pigmentation
  • Palmoplantar keratoderma

And another 23 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 DARIER DISEASE have a estimated prevalence of 3.4 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Darier Disease Is also known as keratosis follicularis, darier-white disease, dd, darier disease.

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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Darier Disease Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders.

By Athena Diagnostics Inc (United States).

SYNGAP1, TBX1, TSC1, TSC2, SETBP1, PANK2, ADGRV1, ATP6V0A2, MAGI2, VPS13A, ANKRD11, VPS13B, KIF1BP, KANSL1, SMC3, PIGV, NIPBL, ROGDI, GFAP, HPRT1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
ATP2A2.

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

ATP2A2
Specificity
100 %
Genes
100 %
ATP2A2 Gene Sequencing.

By GeneDx (United States).

ATP2A2
Specificity
100 %
Genes
100 %
ATP2A2. Complete sequencing.

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

ATP2A2
Specificity
100 %
Genes
100 %
Darier disease (sequence analysis of ATP2A2 gene).

By CGC Genetics (Portugal).

ATP2A2
Specificity
100 %
Genes
100 %
Darier-White disease (deletion/duplication analysis on ATP2A2 gene).

By CGC Genetics (Portugal).

ATP2A2
Specificity
100 %
Genes
100 %
Darier-White disease (deletion/duplication analysis on ATP2A2 gene).

By CGC Genetics (Portugal).

ATP2A2
Specificity
100 %
Genes
100 %

We have 13 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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