Haim-munk Syndrome

Table of contents:

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

Description

Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.

Genes related to Haim-munk Syndrome

CTSC

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Haim-munk Syndrome

Hyperkeratosis
Pes planus
Arachnodactyly
Palmoplantar keratoderma
Palmoplantar hyperkeratosis
Periodontitis
Osteolytic defects of the phalanges of the hand
Thick nail
Recurrent bacterial skin infections
Severe periodontitis

And another 2 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— The onset for some of the known clinical features related to this disease may vary, including infantile onset .

Alternative names

Haim-munk Syndrome Is also known as palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome, palmoplantar keratoderma-periodontopathia-onychogryposis syndrome, keratosis palmoplantaris-periodontopathia-onychogryposis syndrome, cochin jewish disorder, keratosis palmoplantaris with p.

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.

Haim-munk 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 Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WITKOP SYNDROME HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2 DUANE-RADIAL RAY SYNDROME; DRRS AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2; AI2A2