Papillon-lefÈvre Syndrome

Table of contents:

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

Description

Papillon-Lefèvre syndrome (PLS) is a rare ectodermal dysplasia characterized by palmoplantar keratoderma associated with early-onset periodontitis.

Genes related to Papillon-lefÈvre Syndrome

CTSC

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Papillon-lefÈvre Syndrome

Intellectual disability
Neoplasm
Abnormality of the dentition
Recurrent respiratory infections
Hyperhidrosis
Hyperkeratosis
Carcinoma
Erythema
Papule
Nail dystrophy

And another 36 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 PAPILLON-LEFÈVRE SYNDROME have a estimated prevalence of 0.25 per 100k in Europe.
— The onset for some of the known clinical features related to this disease may vary, including infantile onset .

Alternative names

Papillon-lefÈvre Syndrome Is also known as keratosis palmoplantar-periodontopathy syndrome, pls, keratosis palmoplantaris with periodontopathia.

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.

Papillon-lefÈvre Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Lysosomal Storage Disease Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SGSH, SLC17A5, SMPD1, TCF4, MCOLN1, NPC2, ADAMTSL2, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, DYM, ANTXR2, COL11A2, PEX26, GNE, CTNS , (...) View the complete list with 54 more genes Panel complete gene list SGSH, SLC17A5, SMPD1, TCF4, MCOLN1, NPC2, ADAMTSL2, DNAJC5, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, DYM, ANTXR2, COL11A2, PEX26, GNE, CTNS, CTSC, CTSD, CTSK, HGSNAT, MFSD8, DHCR7, GNPTAB, ATP13A2, AGA, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GM2A, GNS, GPC3, GUSB, HEXA, HEXB, HRAS, HYAL1, IDS, IDUA, LAMP2, LIPA, MAN2B1, MANBA, ARSA, KMT2D, ARSB, ASAH1, NAGA, NAGLU, NEU1, NPC1, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PHYH, CTSA, PPT1, PSAP, PEX19, PEX2, PEX5, RAI1 Specificity 2 % Genes 100 %
CTSC. By Institute for Human Genetics University Clinic Freiburg (Germany). CTSC Specificity 100 % Genes 100 %
CTSC. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). CTSC Specificity 100 % Genes 100 %
Papillon-Lefevre syndrome (sequence analysis of CTSC gene). By CGC Genetics (Portugal). CTSC Specificity 100 % Genes 100 %
Haim-Munk syndrome (sequence analysis of CTSC gene). By CGC Genetics (Portugal). CTSC Specificity 100 % Genes 100 %
Papillon-Lefevre Syndrome (PLS) via CTSC Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). CTSC Specificity 100 % Genes 100 %
Haim-Munk syndrome. By Centogene AG - the Rare Disease Company (Germany). CTSC Specificity 100 % Genes 100 %
Papillon-Lefevre syndrome. By Centogene AG - the Rare Disease Company (Germany). CTSC Specificity 100 % Genes 100 %

You can get up to 20 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Genetic Syndrome Finder

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