palmoplantar keratoderma-deafness syndrome
Go to external page http://purl.obolibrary.org/obo/MONDO_0007852
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. [ Orphanet:2202 ]
Synonyms: PPK-deafness syndrome palmoplantar hyperkeratosis-deafness syndrome palmoplantar hyperkeratosis-hearing loss syndrome palmoplantar keratoderma-hearing loss syndrome
Term information
- UMLS:C1835672 (MONDO:equivalentTo)
- Orphanet:2202 (OMIM:148350)
- OMIM:148350 (Orphanet:2202/e)
- MESH:C536152 (Orphanet:2202/e)
- DOID:0111505 (MONDO:equivalentTo)
- MEDGEN:332030 (MONDO:equivalentTo)
- GARD:3094 (MONDO:GARD)
ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare
http://purl.obolibrary.org/obo/DOID_0111505
http://identifiers.org/medgen/332030
http://www.orpha.net/ORDO/Orphanet_2202
http://identifiers.org/mesh/C536152
https://omim.org/entry/148350
http://linkedlifedata.com/resource/umls/id/C1835672
focal palmoplantar keratoderma with sensorineural deafness (subtype)
keratoderma palmoplantar, with deafness
keratoderma palmoplantar deafness
diffuse palmoplantar keratoderma with deafness (subtype)
hereditary palmoplantar keratoderma with deafness (subtype)
palmoplantar keratoderma and sensorineural deafness
keratoderma, palmoplantar, with deafness