Primary lipodystrophy
- Type
- Category
- Group
- Group of disorders
- Age of onset
- All ages
- Status
- active
A heterogenous group of rare endocrine diseases characterized by a generalized or localized loss of adipose tissue (lipoatropy) associated with dysmetabolic alterations with insulin resistance, altered glucose tolerance or diabetes, and hypertriglyceridemia leading to a risk of acute pancreatitis. The diabetes leads to chronic complications involving the retina, kidney, nerves and cardiovascular system, and to liver steatosis that could result in cirrhosis. In some forms, lipoatrophy is associated with selective hypertrophy of other fat deposits. Clinical signs of insulin resistance (acanthosis nigricans and signs of hyperandrogenism) are often present. It has both genetic and acquired forms.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary lipodystrophy | |
| fr | Lipodystrophie primitive | |
| de | Lipodystrophien, primäre | |
| es | Lipodistrofias primarias | |
| it | Lipodistrofie primitive | |
| nl | Primaire lipodystrofie | |
| pt | Lipodistrofia primária | |
| pl | Lipodystrofia pierwotna | |
| cs | Primární lipodystrofie | |
| uk | Первинна ліподистрофія | |
| zh | 原发性脂肪代谢障碍 | |
| tr | Primer lipodistrofi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681471 | 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:97978Rare endocrine disease
rare endocrine diseases - ORPHA:79382Subcutaneous tissue disease
rare skin diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90970
- This record as JSON: /data/d/90970.json