Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.
And another 2 symptoms. If you need more information about this disease we can help you.
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.
Panel Name, Specifity and genes Tested/covered |
---|
![]() 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
Specificity
2 %
Genes
100 % |
![]() By Institute for Human Genetics University Clinic Freiburg (Germany).
CTSC
Specificity
100 %
Genes
100 % |
![]() By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
CTSC
Specificity
100 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
CTSC
Specificity
100 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
CTSC
Specificity
100 %
Genes
100 % |
![]() By PreventionGenetics PreventionGenetics (United States).
CTSC
Specificity
100 %
Genes
100 % |
![]() By Centogene AG - the Rare Disease Company (Germany).
CTSC
Specificity
100 %
Genes
100 % |
![]() By Centogene AG - the Rare Disease Company (Germany).
CTSC
Specificity
100 %
Genes
100 % |
You can check the following sources for additional information.
OMIM ORPHANET MESH Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WEBB-DATTANI SYNDROME; WEDAS HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6; FPLD6 ALOPECIA-MENTAL RETARDATION SYNDROME 1; APMR1