You are using an outdated browser. Please upgrade your browser to improve your experience.

palmoplantar keratoderma-deafness syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.
Uniprot Description An autosomal dominant disorder characterized by the association of palmoplantar hyperkeratosis with progressive, bilateral, high-frequency, sensorineural deafness.
Mondo Term and Equivalent IDs
MONDO:0007852:  palmoplantar keratoderma-deafness syndrome
DOID:0111505: 
GARD:0003094: 
MESH:C536152: 
Orphanet:2202: 
UMLS:C1835672: