PPARG-related familial partial lipodystrophy
Synonyms: FPLD3 · Familial partial lipodystrophy type 3 · PPARG-related FPLD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasmas, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axillae and neck, hirsutism, and muscular hypertrophy of the lower limbs.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PPARG-related familial partial lipodystrophy | FPLD3 · Familial partial lipodystrophy type 3 · PPARG-related FPLD |
| fr | Lipodystrophie partielle familiale associée à PPARG | LDPF3 · Lipodystrophie partielle familiale type 3 · LDPF associée à PPARG |
| de | Lipodystrophie, familiäre partielle, durch PPARG-Genmutation | FPLD3 · Lipodystrophie, familiäre partielle, Typ 3 · PPARG-abhängige FPLD |
| es | Lipodistrofia parcial familiar asociada a PPARG | FPLD asociada a PPARG · FPLD3 · Lipodistrofia parcial familiar tipo 3 |
| it | Lipodistrofia parziale familiare PPARG-correlata | FPLD PPARG-correlato · FPLD3 · Lipodistrofia parziale familiare, tipo 3 |
| nl | PPARG-gerelateerde familiale partiële lipodystrofie | FPLD3 · Familiale partiële lipodystrofie type 3 · PPARG-gerelateerde FPLD |
| pt | Lipodistrofia parcial familiar PPARG-relacionada | FPLD3 · Lipodistrofia parcial familiar tipo 3 |
| pl | Rodzinna lipodystrofia częściowa zależna od PPARG | FplD zależna od PPARG · FplD3 · Rodzinna częściowa lipodystrofia typu 3 |
| cs | PPARG-vázaná familiární parciální lipodystrofie | FPLD3 · Familiární parciální lipodystrofie, typ 3 · PPARG-vázaná FPLD |
| uk | Сімейна часткова ліподистрофія, повязана з PPARG | Сімейна часткова ліподистрофія типу 3 · FPLD3 · FPLD, повязані з PPARG |
| zh | PPARG相关性家族性部分脂肪营养障碍 | 家族性部分性脂肪营养不良3型 |
| tr | PPARG-ilişkili ailesel kısmi lipodistrofi | FPLD3 · PPARG-ilişkili FPLD · Ailesel kısmi lipodistrofi tip 3 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604367 | E | validated | |
| ICD-10 | E88.1 | NTBT | attributed | validated |
| ICD-11 | 5A44 | NTBT | index | validated |
| MONDO | 0011448 | E | validated | |
| UMLS | C1720861 | E | validated | |
| GARD | 12600 | 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 (1):
- ORPHA:98306Familial partial lipodystrophy
rare genetic diseases; rare skin diseases; rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PPARG | Disease-causing germline mutation(s) in | Assessed | HGNC:9236 | ENSG00000132170 | 601487 | 3p25.2 | peroxisome proliferator activated receptor gamma | 12453919[PMID]_11788685[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 16409151[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
36 annotations · validated 2017-01-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000822 | Hypertension | |
| HP:0000855 | Insulin resistance | |
| HP:0100578 | Lipoatrophy | |
| Very frequent (99-80%) | ||
| HP:0008065 | Aplasia/Hypoplasia of the skin | |
| HP:0000819 | Diabetes mellitus | |
| HP:0002240 | Hepatomegaly | |
| HP:0002155 | Hypertriglyceridemia | |
| HP:0000831 | Insulin-resistant diabetes mellitus | |
| HP:0003635 | Loss of subcutaneous adipose tissue in limbs | |
| HP:0000991 | Xanthomatosis | |
| Frequent (79-30%) | ||
| HP:0002621 | Atherosclerosis | |
| HP:0000869 | Secondary amenorrhea | |
| HP:0003712 | Skeletal muscle hypertrophy | |
| HP:0000963 | Thin skin | |
| Occasional (29-5%) | ||
| HP:0012084 | Abnormality of skeletal muscle fiber size | |
| HP:0000956 | Acanthosis nigricans | |
| HP:0003707 | Calf muscle pseudohypertrophy | |
| HP:0001635 | Congestive heart failure | |
| HP:0001677 | Coronaryartery atherosclerosis | |
| HP:0100607 | Dysmenorrhea | |
| HP:0100601 | Eclampsia | |
| HP:0002230 | Generalized hirsutism | |
| HP:0001397 | Hepatic steatosis | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0002149 | Hyperuricemia | |
| HP:0000292 | Loss of facial adipose tissue | |
| HP:0009800 | Maternal diabetes | |
| HP:0003326 | Myalgia | |
| HP:0003198 | Myopathy | |
| HP:0000876 | Oligomenorrhea | |
| HP:0001733 | Pancreatitis | |
| HP:0000147 | Polycystic ovaries | |
| HP:0001744 | Splenomegaly | |
| Very rare (<4-1%) | ||
| HP:0001394 | Cirrhosis | |
| HP:0000786 | Primary amenorrhea | |
| HP:0007457 | Prominent veins on trunk | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 27710244[PMID]_11788685[PMID]_10622252[PMID]_12453919[PMID]_12663460[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79083
- This record as JSON: /data/d/79083.json