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Article

Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C.

Journal of medical genetics - 1 Feb 2000

Hart T C, Hart P S, Michalec M D, Zhang Y, Firatli E, Van Dyke T E, Stabholz A, Zlotogorski A, Shapira L, Soskolne W A, Zlorogorski A

Abstract excerpt

Of the many palmoplantar keratoderma (PPK) conditions, only Papillon-Lefèvre syndrome (PLS) and Haim-Munk syndrome (HMS) are associated with premature periodontal destruction. Although both PLS and HMS share the cardinal features of PPK and severe periodontitis, a number of additional findings are reported in HMS including arachnodactyly, acro-osteolysis, atrophic changes of the nails, and a radiographic...

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Source

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Identifiers

PMID: 10662807
DOI: 10.1136/jmg.37.2.88
PMCID: PMC1734521

Genes

CTSC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C.PMID 10662807Read ↗

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

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

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

Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome.Semantic proximity Read ↗

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

Identification of cathepsin C mutations in ethnically diverse papillon-Lefèvre syndrome patients.Semantic proximity Read ↗

Cathepsin C gene: First compound heterozygous patient with Papillon-Lefèvre syndrome and a novel symptomless mutation.Semantic proximity Read ↗

Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lefèvre syndromeSemantic proximity Read ↗

Description of two new cathepsin C gene mutations in patients with Papillon-Lefèvre syndrome.Semantic proximity Read ↗

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