Mal De Meleda (MDM)

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Disease Ontology 12 DOID:0060862 OMIM 56 248300 KEGG 36 H00695 MeSH 43 D007645 ICD10 32 Q82.8 ICD10 via Orphanet 33 Q82.8

UMLS via Orphanet 72 C0025221 Orphanet 58 ORPHA87503 MedGen 41 C0025221 SNOMED-CT via HPO 68 10165000 128334002 161857006 20255002 238810007 247441003 258211005 271811009 312230002 364538006 400123002 415690000 415691001 43476002 444827008 52613005 52897009 66270006 70819003 86735004 more UMLS 71 C0025221

Genetics Home Reference : ²⁵ Mal de Meleda is a rare skin disorder that begins in early infancy. Affected individuals have a condition known as palmoplantar keratoderma, in which the skin of the palms of the hands and soles of the feet becomes thick, hard, and callused. In mal de Meleda, the thickened skin is also found on the back of the hands and feet and on the wrists and ankles. In addition, affected individuals may have rough, thick pads on the joints of the fingers and toes and on the elbows and knees. Some people with mal de Meleda have recurrent fungal infections in the thickened skin, which can lead to a strong odor. Other features of this disorder can include short fingers and toes (brachydactyly), nail abnormalities, red skin around the mouth, and excessive sweating (hyperhidrosis).

MalaCards based summary : Mal De Meleda, also known as meleda disease, is related to palmoplantar keratosis and palmoplantar keratoderma, nagashima type. An important gene associated with Mal De Meleda is SLURP1 (Secreted LY6/PLAUR Domain Containing 1), and among its related pathways/superpathways is Post-translational modification- synthesis of GPI-anchored proteins. Affiliated tissues include skin and t cells, and related phenotypes are diffuse palmoplantar keratoderma and hyperkeratosis with erythema

Disease Ontology : ¹² A palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that has material basis in homozygous mutation in the SLURP1 gene on chromosome 8q24.

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 87503 Definition Mal de Meleda (MdM) is a diffuse palmoplantar keratoderma, initially reported in the Island of Meleda, characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgrediens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema. Visit the Orphanet disease page for more resources.

KEGG : ³⁶ Mal de Meleda is an autosomal recessive palmoplantar keratoderma characterized by erythema of the palms and soles, followed by a diffuse yellowish hyperkeratosis. Keratinization extends onto the dorsal surface of the hands and feet as the patient ages. It is associated with brachydactyly and nail abnormalities. Mental retardation may also occur.

UniProtKB/Swiss-Prot : ⁷³ Mal de Meleda: A rare autosomal recessive skin disorder, characterized by diffuse transgressive palmoplantar keratoderma with keratotic lesions extending onto the dorsa of the hands and the feet (transgrediens). Patients may have hyperhidrosis. Other features include perioral erythema, lichenoid plaques on the knees and the elbows, and nail abnormalities.

Wikipedia : ⁷⁴ Meleda disease (MDM) or "mal de Meleda", also called Mljet disease, keratosis palmoplantaris and... more...

More information from OMIM: 248300

Clinical features from OMIM:

248300

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Search GEO for disease gene expression data for Mal De Meleda.