Pachyonychia Congenita 3; Pc3
Description
Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011).For a discussion of genetic heterogeneity of pachyonychia congenita, see {167200}.
Clinical Features
Top most frequent phenotypes and symptoms related to Pachyonychia Congenita 3; Pc3
- Hyperhidrosis
- Hyperkeratosis
- Nail dystrophy
- Palmoplantar keratoderma
- Epidermal acanthosis
- Corneal dystrophy
- Natal tooth
- Hamartoma
- Gingivitis
- Furrowed tongue
And another 7 symptoms. If you need more information about this disease we can help you.
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.Pachyonychia Congenita 3; Pc3 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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KRT6A.
By Institute for Human Genetics University Clinic Freiburg (Germany).
KRT6A
Specificity
100 %
Genes
100 % |
KRT6A. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
KRT6A
Specificity
100 %
Genes
100 % |
Pachyonychia congenita (sequence analysis of KRT6A gene).
By CGC Genetics (Portugal).
KRT6A
Specificity
100 %
Genes
100 % |
Pachyonychia congenita type 1.
By Centogene AG - the Rare Disease Company (Germany).
KRT6A
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 % |
KRT6A.
By Fulgent Genetics Fulgent Genetics (United States).
KRT6A
Specificity
100 %
Genes
100 % |
Pachyonychia Congenita Panel.
By Blueprint Genetics (Finland).
TRPV3, KRT6C, AAGAB, KRT16, KRT17, KRT6A, KRT6B
Specificity
15 %
Genes
100 % |
Palmoplantar Keratoderma Panel.
By Blueprint Genetics (Finland).
WNT10A, SERPINB7, MBTPS2, TRPV3, SLURP1, KRT6C, CTSC, AAGAB, DSG1, DSP, ENPP1, GJB2, GJB4, GJB6, JUP, AQP5, KRT1, KRT14, KRT16, KRT17 , (...)
View the complete list with 5 more genes
Specificity
4 %
Genes
100 % |
You can get up to 6 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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