| H00696 | |
| H number | H00696 |
| Name | Haim-Munk syndrome; Keratosis palmoplantaris periodontopathia onychogryposis |
| Description | Haim-Munk syndrome is a rare autosomal recessive disorder of keratinization characterized by palmoplantar hyperkeratosis and marked periodontitis. Additional features include onychogryphosis, arachnodactyly, nail dysplasia, pes planus, and acroosteolysis. Mutations in cathepsin C gene cause this disease. |
| Category | Congenital malformation |
| Network | - |
| Gene | CTSC [HSA:1075] [KO:K01275] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD27.Y ICD-10: Q82.8 MeSH: C537627 OMIM: 245010 |
| Reference | PMID:15708285 AUTHORS Itin PH, Fistarol SK TITLE Palmoplantar keratodermas. JOURNAL Clin Dermatol 23:15-22 (2005) DOI:10.1016/j.clindermatol.2004.09.005 PMID:15727652 AUTHORS Cury VF, Gomez RS, Costa JE, Friedman E, Boson W, De Marco L TITLE A homozygous cathepsin C mutation associated with Haim-Munk syndrome. JOURNAL Br J Dermatol 152:353-6 (2005) DOI:10.1111/j.1365-2133.2004.06278.x PMID:10662807 AUTHORS Hart TC, Hart PS, Michalec MD, Zhang Y, Firatli E, Van Dyke TE, Stabholz A, Zlotogorski A, Shapira L, Soskolne WA TITLE Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin C. JOURNAL J Med Genet 37:88-94 (2000) DOI:10.1136/jmg.37.2.88 PMID:10662808 AUTHORS Hart TC, Hart PS, Michalec MD, Zhang Y, Marazita ML, Cooper M, Yassin OM, Nusier M, Walker S TITLE Localisation of a gene for prepubertal periodontitis to chromosome 11q14 and identification of a cathepsin C gene mutation. JOURNAL J Med Genet 37:95-101 (2000) DOI:10.1136/jmg.37.2.95 |