Rare Diseases Symptoms Automatic Extraction

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

[papillon-lefèvre syndrome]

Papillon-Lefevre syndrome and Haim Munk syndrome are palmoplantar keratodermas associated with premature periodontal destruction. The additional findings of Haim Munk Syndrome include onychogryphosis, arachnodactyly, acral osteolysis and pes planus. Both are associated with mutations in the lysosomal protease cathepsin C. We describe a patient with phenotype for Haim Munk Syndrome and genetic analysis revealed a homozygous point mutation in exon 1 of the gene encoding cathepsin C.

Diseases presenting "homozygous point mutation in exon" symptom

  • papillon-lefèvre syndrome
  • triple a syndrome

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