Roch-Leri mesosomatous lipomatosis
historical
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- No data available
- Status
- historical
Roch-Leri mesosomatous lipomatosis is a rare benign autosomal dominant disorder of fat tissue proliferation characterized by the presence of multiple small lipomas of 2 to 5 cm in diameter in the middle third of the body (i.e. the forearms, trunk, and upper thighs), and which are generally painless and can be easily removed by local anesthesia, provided that they are not too numerous or confluent. There have been no further descriptions in the literature since 1984.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Roch-Leri mesosomatous lipomatosis | |
| fr | Lipomatose mésosomatique de Roch-Leri | |
| de | Lipomatose, mesosomatische, Typ Roch-Leri | |
| es | Lipomatosis mesosomática de Roch-Leri | |
| it | Lipomatosi mesosomatica di Roch-Leri | |
| nl | Mesosomatische lipomatose, Roch-Leri-type | |
| pt | Lipomatose mesossomatosa de Roch-Leri | |
| pl | Lipomatoza Rocha i Leriego | |
| cs | Rochova-Leriho mesozomatózní lipomatóza | Roch-Leriho mesozomatózní lipomatóza |
| uk | Мезосоматозний ліпоматоз Рох-Лері | |
| zh | Roch-Leri体中部脂肪瘤样病 | |
| tr | Roch-Leri mezozomatöz lipomatoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E88.2 | NTBT | attributed | validated |
| ICD-11 | EF02.1 | NTBT | attributed | validated |
| MONDO | 0018884 | E | validated | |
| UMLS | C4274284 | E | validated | |
| GARD | 4733 | 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 (2):
- ORPHA:183484Genetic subcutaneous tissue disorder
rare genetic diseases - ORPHA:79382Subcutaneous tissue disease
rare skin diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
4 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001482 | Subcutaneous nodule | |
| Frequent (79-30%) | ||
| HP:0001012 | Multiple lipomas | |
| Very rare (<4-1%) | ||
| HP:0000979 | Purpura | |
| HP:0001873 | Thrombocytopenia | |
Annotation source: 6540899[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/529
- This record as JSON: /data/d/529.json