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CTSC-related disorder

MONDO:0800465

Any 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

17 clinical trials for this condition and its sub-types.

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Sub-types

Periodontitis, aggressive 1 (6) Papillon-Lefevre disease (4) Haim-Munk syndrome (0)

Broader categories

Disease (618) Hereditary disease (172) Skin disorder (123) Syndromic disease (24) Human disease (14) Hereditary skin disorder (5) Ectodermal dysplasia syndrome (3) Disease of genetic or genomic mechanism (2) Disease by body system or component (0) Disease by etiologic mechanism (0)
Trials to join now! 9 Not yet recruiting 1 Not yet finished but already full! 3 Completed 4
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