Pachyonychia Congenita

Table of contents:

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

Description

Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa.

Genes related to Pachyonychia Congenita

KRT16
KRT6A
KRT6B
KRT17

View recommended genes panels

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.

Click here to know more about Mendelian.

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

LEIPZIG — Pr Thomas MAGIN
Investigator of research project
- Institution/s:
  — TRM Universität Leipzig
- Research area/topic::
  Keratin diseases : Keratin-dependent regulation of protein biosynthesis and cytoskeletal organization during epithelial differentiation

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

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 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 7 % Genes 100 %
Single gene testing KRT16. By CeGaT GmbH (Germany). KRT16 Specificity 100 % Genes 25 %