Details of Disease | DrugMAP

General Information of Disease (ID: DISL46K2)

Disease Name	Palmoplantar keratoderma-deafness syndrome
Synonyms	keratoderma, palmoplantar, with deafness; focal palmoplantar keratoderma with sensorineural deafness (subtype); palmoplantar keratoderma and sensorineural deafness; keratoderma palmoplantar deafness; diffuse palmoplantar keratoderma with deafness (subtype); hereditary palmoplantar keratoderma with deafness (subtype); keratoderma palmoplantar, with deafness; PPK-deafness syndrome; palmoplantar hyperkeratosis-deafness syndrome; palmoplantar hyperkeratosis-hearing loss syndrome; palmoplantar keratoderma-hearing loss syndrome
Definition	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.
Disease Hierarchy	DIS6O9JS: Diffuse palmoplantar keratoderma DISL46K2: Palmoplantar keratoderma-deafness syndrome
Disease Identifiers	MONDO ID MONDO_0007852 MESH ID C536152 UMLS CUI C1835672 OMIM ID 148350 MedGen ID 332030 Orphanet ID 2202 SNOMED CT ID 722203001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GJB2	TTRGZX3	Limited	Biomarker	[1]
GJB2	TTRGZX3	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GJB2	OTBKLEYB	Definitive	Autosomal dominant	[2]
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References

1	Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.Genet Med. 2019 Nov;21(11):2442-2452. doi: 10.1038/s41436-019-0535-9. Epub 2019 Jun 4.
2	A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350). J Med Genet. 2000 Jan;37(1):50-1. doi: 10.1136/jmg.37.1.50.