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.

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 Universit√§t 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
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 more

Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like OMENN SYNDROME LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5; DSMA5 PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING; MSPC SPERMATOGENIC FAILURE 21; SPGF21