Familial multiple lipomatosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
LIPOMA LIPOMATOSIS, FAMILIAL MULTIPLE LIPO FML |
| Number of Symptoms | 4 |
| OrphanetNr: | 199276 |
| OMIM Id: |
151900
|
| ICD-10: |
E88.2 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
|
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic subcutaneous tissue disease
-Rare genetic disease Subcutaneous tissue disease -Rare skin disease |
Symptom Information:
|
|
(HPO:0001012) | Multiple lipomas | 43 / 7739 | ||||
|
|
(OMIM) | Frequent rearrangements at 12q13 or 12q14 | 1 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(MedDRA:10061228) | Lipomatosis | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) | Familial multiple lipomatosis is a rare autosomal dominant disorder characterized by numerous encapsulated lipomas on the trunk and extremities (Keskin et al., 2002). |
| Clinical Description OMIM |
Stephens and Isaacson (1959) observed 17 cases in 3 generations. Usually the condition did not become evident until the age of about 35 years, although in 1 case lipomas were present at age 9. The gastrointestinal tract may ... |