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Article

A homozygous cathepsin C mutation associated with Haim-Munk syndrome.

The British journal of dermatology - 1 Feb 2005

Cury V F, Gomez R S, Costa J E, Friedman E, Boson W, De Marco L

Abstract excerpt

Haim-Munk syndrome (HMS) is a rare autosomal recessive disorder characterized clinically by abnormal palmoplantar hyperkeratosis and destruction of the periodontium, with hallmarks of onychogryphosis and arachnodactyly. Germline mutations in the lysosomal protease cathepsin C gene (CTSC) have been described in a single patient with HMS and in several individuals with the clinically related disorder...

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Source

Identifiers

PMID: 15727652
DOI: 10.1111/j.1365-2133.2004.06278.x

Genes

CTSC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A homozygous cathepsin C mutation associated with Haim-Munk syndrome.PMID 15727652Read ↗

Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C.Semantic proximity Read ↗

Cathepsin-C mutation in an individual with phenotypic features of Haim-Munk syndrome: a case report.Semantic proximity Read ↗

A Compound Heterozygous Cathepsin C Mutations Causing Phenotypical Papillion Lafevre/Haim-Munk Syndrome: A Case Report and Review of WES Findings.Semantic proximity Read ↗

Haim Munk syndrome and Papillon Lefevre syndrome--allelic mutations in cathepsin C with variation in phenotype.Semantic proximity Read ↗

Identification of putative genetic modifying factors that influence the development of Papillon-Lefévre or Haim-Munk syndrome phenotypes.Semantic proximity Read ↗

New syndrome of hypotrichosis, striate palmoplantar keratoderma, acro-osteolysis and periodontitis not due to mutations in cathepsin C.Semantic proximity Read ↗

Palmoplantar keratoderma, oral involvement, and homozygous CTSC mutation in two brothers from Cambodia.Semantic proximity Read ↗

Novel cathepsin C mutation in a Brazilian family with Papillon-Lefèvre syndrome: case report and mutation update.Semantic proximity Read ↗

<i><scp>CTSC</scp></i> and Papillon–Lefèvre syndrome: detection of recurrent mutations in <scp>H</scp>ungarian patients, a review of published variants and database updateSemantic proximity Read ↗

A novel mutation of the cathepsin C gene in a thai family with Papillon-Lefevre syndrome.Semantic proximity Read ↗

Evidence for a founder mutation in the cathepsin C gene in three families with Papillon-Lefèvre syndrome.Semantic proximity Read ↗

One mutation, two phenotypes: a single nonsense mutation of the CTSC gene causes two clinically distinct phenotypes.Semantic proximity Read ↗

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