CTSC-related disorder
MONDO:0800465Any ectodermal dysplasia syndrome in which the cause of the disease is a variation in the CTSC gene. Variations in the CTSC gene can result in (1) Papillon-Lefevre syndrome (PLS) characterized by palmoplantar keratoderma, severe periodontitis affecting deciduous and permanent dentitions, and premature loss of dentition, (2) Haim-Munk syndrome (HMS) with additional features of arachnodactly, acroosteolysis, pesplanus, and onychogryphosis, (3) aggressive periodontitis 1 (AP1) characterized by severe and protracted gingival infections, leading to tooth loss. All three phenotypes are associated with autosomal recessive inheritance.
Also known as: CTSC-related disorder
11 clinical trials for this condition and its sub-types, 0 tagged with CTSC-related disorder itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of CTSC-related disorder
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Periodontitis, aggressive 1 6 trials
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Papillon-Lefevre disease 5 trials
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Haim-Munk syndrome 0 trials
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