Details of Disease | DrugMAP

General Information of Disease (ID: DIS8E1MP)

Disease Name	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
Synonyms	palmoplantar keratoderma, Norrbotten recessive type; PPKNR; hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type; PPK, Gamborg-Nielsen type
Definition	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterized by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive.
Disease Hierarchy	DIS6O9JS: Diffuse palmoplantar keratoderma DIS8E1MP: Hereditary palmoplantar keratoderma, Gamborg-Nielsen type
Disease Identifiers	MONDO ID MONDO_0009489 MESH ID C565454 UMLS CUI C1855644 OMIM ID 244850 MedGen ID 344543 Orphanet ID 86923

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SERPINA12	OTS1E6IP	Supportive	Autosomal recessive	[1]
SLURP1	OT89YD2E	Supportive	Autosomal recessive	[2]
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References

1	Loss-of-Function Variants in SERPINA12 Underlie Autosomal Recessive Palmoplantar Keratoderma. J Invest Dermatol. 2020 Nov;140(11):2178-2187. doi: 10.1016/j.jid.2020.02.030. Epub 2020 Apr 2.
2	Palmoplantar keratoderma of the Gamborg-Nielsen type is caused by mutations in the SLURP1 gene and represents a variant of Mal de Meleda. Acta Derm Venereol. 2014 Nov;94(6):707-10. doi: 10.2340/00015555-1840.