Mal de Meleda
Synonyms: Meleda disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare diffuse palmoplantar keratoderma 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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mal de Meleda | Meleda disease |
| fr | Mal de Meleda | Maladie de Méléda |
| de | Mal de Meleda | Meleda-Krankheit |
| es | Mal de Meleda | Enfermedad de Meleda |
| it | Mal de Meleda | Malattia di Meleda |
| nl | Mal de Meleda | Ziekte van Meleda |
| pt | Mal de Meleda | |
| pl | Mal de Meleda - endemiczny symetryczny rogowiec dłoni i stóp | Choroba Meleda · Rogowiec dłoni i stóp Siemensa · Transgrediens palmoplantar keratoderma of Siemens |
| cs | Meledova choroba | Siemensova palmoplantární transgredientní keratóza · Nemoc z Meledy · Siemensova transgredientní palmoplantární keratoderma · Keratosis palmaris et plantaris |
| uk | Маль де Меледа | Трансгресивний кератоз долонь від Siemens · Хвороба Меледа · Трансгредієнтна долонно-підошовна кератодермія Сіменса |
| zh | Meleda角化病 | Transgrediens掌跖角化病Siemens |
| tr | Mal de Meleda | Meleda hastalığı · Siemens'in keratosis palmoplantaris transgrediensi · Siemens'in transgrediens palmoplantar keratoderması |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 248300 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EC20.30 | NTBT | index | validated |
| MONDO | 0009552 | E | validated | |
| UMLS | C0025221 | E | validated | |
| GARD | 92 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98356Autosomal recessive isolated diffuse palmoplantar keratoderma
rare genetic diseases; rare skin diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:86923Hereditary palmoplantar keratoderma, Gamborg-Nielsen type moved to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLURP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:18746 | ENSG00000126233 | 606119 | 8q24.3 | secreted LY6/PLAUR domain containing 1 | 12483299[PMID]_20854438[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Worldwide | Value and class | Validated | 9887370[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
15 annotations · validated 2021-11-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001760 | Abnormal foot morphology | |
| HP:0001155 | Abnormality of the hand | |
| HP:0011123 | Inflammatory abnormality of the skin | |
| HP:0007404 | Nonepidermolytic palmoplantar keratoderma | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0031190 | Superficial dermal perivascular inflammatory infiltrate | |
| Frequent (79-30%) | ||
| HP:0001218 | Autoamputation | |
| HP:0007447 | Diffuse palmoplantar kyperkeratosis | |
| HP:0025092 | Epidermal acanthosis | |
| HP:0010783 | Erythema | |
| HP:0001371 | Flexion contracture | |
| HP:0000975 | Hyperhidrosis | |
| HP:0007390 | Hyperkeratosis with erythema | |
| Occasional (29-5%) | ||
| HP:0008064 | Ichthyosis | |
| HP:0031452 | Lichenoid skin lesion | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 25557416[PMID]_26945534[PMID]_26445964[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/87503
- This record as JSON: /data/d/87503.json