PLIN1-related familial partial lipodystrophy
Synonyms: FPLD4 · PLIN1-related FPLD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare genetic lipodystrophy characterized by loss of subcutaneous adipose tissue primarily affecting the lower limbs and gluteal region due to a defect in the PLIN1 gene. Associated features of insulin resistance, hepatic steatosis, dyslipidemia, hypertension, axillary acanthosis nigricans and muscular hypertrophy of the lower limbs are typical.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PLIN1-related familial partial lipodystrophy | FPLD4 · PLIN1-related FPLD |
| fr | Lipodystrophie partielle familiale associée à PLIN1 | FPLD4 · LDPF associée à PLIN1 · LDPF4 |
| de | Lipodystrophie, familiäre partielle, PLIN1-abhängige | FPLD durch PLIN1-Genmutationen · FPLD4 · PLIN1-bedingte FPLD |
| es | Lipodistrofia parcial familiar asociada al gen PLIN1 | FPLD asociada a PLIN1 · FPLD asociada al gen PLIN1 · FPLD4 |
| it | Lipodistrofia parziale familiare PLIN1-correlata | FPLD PLIN1-correlata · FPLD4 |
| nl | PLIN1-gerelateerde familiale partiële lipodystrofie | FPLD4 · PLIN1-gerelateerde FPLD |
| pt | Lipodistrofia parcial familiar PLIN1-relacionada | |
| pl | Rodzinna częściowa lipodystrofia zależna od plIN1 | FplD zależna od plIN1 · FplD4 |
| cs | PLIN1-vázaná familiární parciální lipodystrofie | FPLD4 · PLIN1-vázaný FPLD |
| uk | Сімейна часткова ліподистрофія, повязана з PLIN1 | FPLD4 · FPLD, повязані з PLIN1 |
| zh | PLIN1基因相关的家族性局部脂肪代谢障碍 | PLIN1基因相关FPLD |
| tr | PLIN1-ilişkili ailesel kısmi lipodistrofi | FPLD4 · PLIN1-ilişkili FPLD |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613877 | E | validated | |
| ICD-10 | E88.1 | NTBT | attributed | validated |
| ICD-11 | 5A44 | NTBT | index | validated |
| MONDO | 0013478 | E | validated | |
| UMLS | C5191005 | 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:98306Familial partial lipodystrophy
rare genetic diseases; rare skin diseases; rare endocrine diseases - ORPHA:181368Rare insulin-resistance syndrome
rare genetic diseases; rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PLIN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9076 | ENSG00000166819 | 170290 | 15q26.1 | perilipin 1 | 21345103[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 21345103[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | 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
16 annotations · validated 2016-07-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000956 | Acanthosis nigricans | Diagnostic criterion |
| HP:0001397 | Hepatic steatosis | Diagnostic criterion |
| HP:0000842 | Hyperinsulinemia | Diagnostic criterion |
| HP:0000822 | Hypertension | Diagnostic criterion |
| HP:0002155 | Hypertriglyceridemia | Diagnostic criterion |
| HP:0000877 | Insulin-resistant diabetes mellitus at puberty | Diagnostic criterion |
| HP:0100578 | Lipoatrophy | Diagnostic criterion |
| Very frequent (99-80%) | ||
| HP:0008981 | Calf muscle hypertrophy | Diagnostic criterion |
| HP:0000789 | Infertility | |
| HP:0009017 | Loss of gluteal subcutaneous adipose tissue | |
| HP:0003635 | Loss of subcutaneous adipose tissue in limbs | |
| HP:0003758 | Reduced subcutaneous adipose tissue | |
| Frequent (79-30%) | ||
| HP:0003117 | Abnormality of circulating hormone level | |
| HP:0001395 | Hepatic fibrosis | |
| HP:0000876 | Oligomenorrhea | |
| HP:0000147 | Polycystic ovaries | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 21345103[PMID]_18256394[PMID]_18256390[PMID]_12927424[PMID]_22685055[PMID]_17908770[PMID]_7068697[PMID]_4552697[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/280356
- This record as JSON: /data/d/280356.json