Pachyonychia Congenita
Description
Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa.
Clinical Features
Top most frequent phenotypes and symptoms related to Pachyonychia Congenita
- Cataract
- Cognitive impairment
- Hepatomegaly
- Respiratory insufficiency
- Abnormality of the dentition
- Alopecia
- Hyperhidrosis
- Hyperkeratosis
- Nail dystrophy
- Carious teeth
And another 17 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
Doctors, researchs, and experts related to Pachyonychia Congenita extracted from public data.
Pachyonychia Congenita Experts map
Current Researchs and researchers
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LEIPZIG — Pr Thomas MAGIN
Investigator of research project
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Institution/s:
— TRM Universität Leipzig -
Research area/topic::
Keratin diseases : Keratin-dependent regulation of protein biosynthesis and cytoskeletal organization during epithelial differentiation
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Institution/s:
-
DUNDEE — Pr William H MCLEAN
Investigator of research project
-
Institution/s:
— University of Dundee -
Research area/topic::
MICA: Delivering gene silencing therapy to the epidermis and ocular surface
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Institution/s:
Pachyonychia Congenita Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
KRT16.
By Institute for Human Genetics University Clinic Freiburg (Germany).
KRT16
Specificity
100 %
Genes
25 % |
KRT16. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
KRT16
Specificity
100 %
Genes
25 % |
KRT16. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
KRT16
Specificity
100 %
Genes
25 % |
KRT16. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
KRT16
Specificity
100 %
Genes
25 % |
Palmoplantar keratoderma, nonepidermolytic, focal.
By Centogene AG - the Rare Disease Company (Germany).
KRT16
Specificity
100 %
Genes
25 % |
Pachyonychia congenita type 1.
By Centogene AG - the Rare Disease Company (Germany).
KRT16
Specificity
100 %
Genes
25 % |
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
7 %
Genes
100 % |
Single gene testing KRT16.
By CeGaT GmbH (Germany).
KRT16
Specificity
100 %
Genes
25 % |
You can get up to 36 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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