Details of Disease

General Information of Disease (ID: DISVLL9A)

• Disease Name: Mal de Meleda
• Synonyms: keratosis palmoplantaris transgradiens of Siemens; MDM; MAL DE Meleda; keratosis palmoplantaris transgrediens of Siemens; Meleda Disease; transgrediens palmoplantar keratoderma of Siemens; Meleda disease; mal de Meleda
• Definition: Mal de Melada (MdM) is a diffuse palmoplantar keratoderma initially reported from of the Island of Meleda characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgradiens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema.
• Disease Hierarchy:
  DIS6O9JS: Diffuse palmoplantar keratoderma
  DISVLL9A: Mal de Meleda
• Disease Identifiers:
  MONDO ID: MONDO_0009552
  MESH ID: D007645
  UMLS CUI: C0025221
  OMIM ID: 248300
  MedGen ID: 7522
  Orphanet ID: 87503
  SNOMED CT ID: 239069005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GJB2	TTRGZX3	Strong	Biomarker	[1]
KLKB1	TTN0PCX	Strong	Biomarker	[1]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AAGAB	OTRGGM2Z	Strong	Biomarker	[2]
SLURP1	OT89YD2E	Strong	Autosomal recessive	[3]

References

• [1] 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.
• [2] Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.Nat Genet. 2012 Nov;44(11):1272-6. doi: 10.1038/ng.2444. Epub 2012 Oct 14.
• [3] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.