ORPHA:98306
Familial partial lipodystrophy
Synonyms: FPLD
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
A group of rare genetic lipodystrophies characterized, in most cases, by fat loss from the limbs and buttocks, from childhood or early adulthood, and often associated with acanthosis nigricans, insulin resistance, diabetes, hypertriglyceridemia and liver steatosis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial partial lipodystrophy | FPLD |
| fr | Lipodystrophie partielle familiale | FPLD · LDPF |
| de | Lipodystrophie, partielle, familiäre Form | = en |
| es | Lipodistrofia parcial familiar | = en |
| it | Lipodistrofia parziale familiare | = en |
| nl | Familiale partiële lipodystrofie | = en |
| pt | Lipodistrofia parcial familiar | |
| pl | Rodzinna lipodystrofia częściowa | FplD |
| cs | Familiární parciální lipodystrofie | = en |
| uk | Сімейна часткова ліподистрофія | = en |
| zh | 家族性部分脂肪营养不良 | = en |
| tr | ailesel kısmi lipodistrofi | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0020088 | E | validated | |
| MeSH | D052496 | E | validated | |
| UMLS | C0271694 | E | validated | |
| GARD | 11962 | E | validated | |
| MedDRA | 10087377 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98305Genetic lipodystrophy
rare genetic diseases; rare skin diseases; rare endocrine diseases
Children (8):
- ORPHA:79085AKT2-related familial partial lipodystrophy
- ORPHA:280365Autosomal semi-dominant severe lipodystrophic laminopathy
- ORPHA:435651CIDEC-related familial partial lipodystrophy
- ORPHA:2348Familial partial lipodystrophy, Dunnigan type
- ORPHA:79084Familial partial lipodystrophy, Köbberling type
- ORPHA:435660LIPE-related familial partial lipodystrophy
- ORPHA:280356PLIN1-related familial partial lipodystrophy
- ORPHA:79083PPARG-related familial partial lipodystrophy
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Validated | European Medicines Agency 2016[OTHER]_29066925[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98306
- This record as JSON: /data/d/98306.json