Familial angiolipomatosis
- Type
- Disease
- Group
- Disorder
- Status
- active
Familial angiolipomatosis is a rare, genetic, subcutaneous tissue disorder characterized by the presence of benign, usually multiple, subcutaneous tumors composed of adipose tissue and blood vessels, typically manifesting as yellow, firm, circumscribed, 1-4 cm in diameter tumors located in the arms, legs and trunk, with deep extension of the lesions between muscles, tendons and joint capsules (without infiltration of these structures), in several members of a single family. Tumors may be tender or mildly painful when palpated and do not regress spontaneously.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial angiolipomatosis | |
| fr | Angiolipomatose familiale | |
| de | Angiolipomatose, familiäre | |
| es | Angiolipomatosis familiar | |
| it | Angiolipomatosi familiare | |
| nl | Familiale angiolipomatose | |
| pt | Angiolipomatose familiar | |
| pl | Rodzinna tłuszczakowatość naczyniowa | |
| cs | Familiární angiolipomatóza | |
| uk | Сімейний ангіоліпоматоз | |
| zh | 家族性血管脂肪瘤病 | |
| tr | ailesel anjiyolipomatoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 206550 | E | validated | |
| ICD-10 | D17.9 | NTBT | attributed | validated |
| ICD-11 | EF02.1 | NTBT | attributed | validated |
| MONDO | 0008792 | E | validated | |
| MeSH | C565951 | E | validated | |
| UMLS | C1859784 | 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/199279
- This record as JSON: /data/d/199279.json