KEGG DISEASE: Haim-Munk syndrome

KEGG

DISEASE: Haim-Munk syndrome

Entry

H00696                      Disease

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H00696  Haim-Munk syndrome

Pathway

Apoptosis

Lysosome

Gene

CTSC [HSA:1075] [KO:K01275]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Itin PH, Fistarol SK

Title

Palmoplantar keratodermas.

Journal

Clin Dermatol 23:15-22 (2005)
DOI:10.1016/j.clindermatol.2004.09.005

Reference

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

Reference

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

Reference

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

LinkDB

» Japanese version

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