Familial multiple lipomatosis
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adolescent, Adult, Infancy
- Status
- active
A rare genetic subcutaneous tissue disease characterized by slow growth of numerous, painless, encapsulated lipomas located predominantly in the subcutaneous adipose tissue of the trunk and limbs, with relative sparing of the head, neck and shoulders. Clinical presentation mostly becomes evident in the third decade where a significant increase in size and number of lipomas is observed. At this stage they may cause discomfort and difficulty in performing daily physical tasks, otherwise they remain painless.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial multiple lipomatosis | |
| fr | Lipomatose multiple familiale | |
| de | Lipomatose, multiple, familiäre Form | |
| es | Lipomatosis múltiple familiar | |
| it | Lipomatosi multipla familiare | |
| nl | Familiale multipele lipomatose | Familiale meervoudige lipomatose |
| pt | Lipomatose múltipla familiar | |
| pl | Rodzinna mnoga tłuszczakowatość | |
| cs | Familiární mnohočetná lipomatóza | |
| uk | Сімейний множинний ліпоматоз | |
| zh | 家族性多发性脂肪瘤病 | |
| tr | ailesel çoklu lipomatoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 151900 | E | validated | |
| ICD-10 | E88.2 | NTBT | attributed | validated |
| ICD-11 | 2E80.0Z | NTBT | index | validated |
| MONDO | 0007909 | E | validated | |
| MeSH | D000071070 | E | validated | |
| UMLS | C1275273 | E | validated | |
| GARD | 12925 | E | validated | |
| MedDRA | 10081235 | 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
0 recordsNo prevalence record in this release.
HPO phenotypes
8 annotations · validated 2025-02-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001012 | Multiple lipomas | |
| HP:0001031 | Subcutaneous lipoma | |
| Occasional (29-5%) | ||
| HP:0006773 | Cutaneous angiolipomas | |
| HP:0001513 | Obesity | |
| HP:0025502 | Overweight | |
| HP:0009830 | Peripheral neuropathy | |
| Very rare (<4-1%) | ||
| HP:0007596 | Painful subcutaneous lipomas | |
| HP:0007618 | Subcutaneous calcification | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 3745530[PMID]_39619307[PMID]_12516905[PMID]_17674589[PMID]_32021365[PMID]_31895524[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/199276
- This record as JSON: /data/d/199276.json