Details of Disease | DrugMAP

General Information of Disease (ID: DISERGZL)

Disease Name	Haim-Munk syndrome
Synonyms	keratosis palmoplantaris with periodontopathia and onychogryposis; HAIM-Munk syndrome; HMS; Cochin Jewish disorder; Haim-Munk syndrome; palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome; palmoplantar keratoderma-periodontopathia-onychogryposis syndrome; keratosis palmoplantaris-periodontopathia-onychogryposis syndrome
Definition	Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.
Disease Hierarchy	DIS0FJ2N: CTSC-related disorder DISCPWH9: Autosomal recessive disease DIS6O9JS: Diffuse palmoplantar keratoderma DISOSIQY: Disorder of lysosomal-related organelles DISERGZL: Haim-Munk syndrome
Disease Identifiers	MONDO ID MONDO_0009491 MESH ID C537627 UMLS CUI C1855627 OMIM ID 245010 MedGen ID 344539 Orphanet ID 2342 SNOMED CT ID 719973009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CTSC	TTQ9J6R	Strong	Autosomal recessive	[1]
CTSC	TT4H0V2	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CTSC	OT79WJZZ	Strong	Autosomal recessive	[1]
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References

1	Dipeptidyl peptidase I is required for the processing and activation of granzymes A and B in vivo. Proc Natl Acad Sci U S A. 1999 Jul 20;96(15):8627-32. doi: 10.1073/pnas.96.15.8627.
2	Palmoplantar keratoderma, oral involvement, and homozygous CTSC mutation in two brothers from Cambodia.Am J Med Genet A. 2020 Feb;182(2):296-302. doi: 10.1002/ajmg.a.61447. Epub 2019 Dec 17.