LIPE-related familial partial lipodystrophy
Synonyms: FPLD6 · LIPE-related FPLD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
A rare, genetic lipodystrophy characterized by abnormal subcutaneous fat distribution, resulting in excess accumulation of fat in the face, neck, shoulders, axillae, trunk and pubic region, and loss of subcutaneous fat from the lower extremities. Variable common additional features are progressive adult onset myopathy, insulin resistance, diabetes, hypertriglyceridemia, hepatic steatosis, and vitiligo.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | LIPE-related familial partial lipodystrophy | FPLD6 · LIPE-related FPLD |
| fr | Lipodystrophie partielle familiale associée à LIPE | FPLD associée à LIPE · FPLD6 · LDPF associée à LIPE |
| de | Lipodystrophie, familiäre partielle, durch LIPE-Genmutation | FPLD6 · LIPE-abhängige FPLD |
| es | Lipodistrofia parcial familiar asociada al gen LIPE | FPLD asociada a LIPE · FPLD asociada al gen LIPE · FPLD6 |
| it | Distrofia parziale familiare correlata a LIPE | |
| nl | LIPE-gerelateerde familiale partiële lipodystrofie | FPLD6 · LIPE-gerelateerde FPLD |
| pt | Lipodistrofia parcial familiar LIPE-relacionada | Lipodistrofia parcial familiar associada a mutações no gene LIPE |
| pl | Rodzinna lipodystrofia częściowa zwiazana z LIPE | FplD związana z LIPE · FplD6 |
| cs | LIPE-vázaná familiární parciální lipodystrofie | FPLD6 · LIPE-vázaná FPLD |
| uk | Сімейна часткова ліподистрофія, повязана з LIPE | FPLD6 · FPLD, повязаний з LIPE |
| zh | LIPE相关性家族性部分脂肪代谢障碍 | LIPE相关的FPLD |
| tr | LIPE-ilişkili ailesel kısmi lipodistrofi | FPLD6 · LIPE-ilişkili FPLD |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615980 | E | validated | |
| ICD-10 | E88.1 | NTBT | attributed | validated |
| ICD-11 | 5A44 | NTBT | attributed | validated |
| MONDO | 0014431 | E | validated | |
| UMLS | C4014869 | 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 |
|---|---|---|---|---|---|---|---|---|
| LIPE | Disease-causing germline mutation(s) in | Assessed | HGNC:6621 | ENSG00000079435 | 151750 | 19q13.2 | lipase E, hormone sensitive type | 25475467[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 24848981[PMID]_27862896[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24848981[PMID]_27862896[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.
HPO phenotypes
20 annotations · validated 2016-12-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0000468 | Increased adipose tissue around the neck | |
| HP:0000855 | Insulin resistance | |
| HP:0009125 | Lipodystrophy | |
| HP:0003635 | Loss of subcutaneous adipose tissue in limbs | |
| Very frequent (99-80%) | ||
| HP:0012881 | Abnormality of the labia majora | |
| HP:0000956 | Acanthosis nigricans | |
| HP:0030685 | Decreased adiponectin level | |
| HP:0003292 | Decreased serum leptin | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0001397 | Hepatic steatosis | |
| HP:0002240 | Hepatomegaly | |
| HP:0002155 | Hypertriglyceridemia | |
| HP:0008993 | Increased intraabdominal fat | |
| HP:0000831 | Insulin-resistant diabetes mellitus | |
| HP:0009017 | Loss of gluteal subcutaneous adipose tissue | |
| HP:0000876 | Oligomenorrhea | |
| HP:0000147 | Polycystic ovaries | |
| HP:0003712 | Skeletal muscle hypertrophy | |
| Frequent (79-30%) | ||
| HP:0008994 | Proximal muscle weakness in lower limbs | |
| HP:0008997 | Proximal muscle weakness in upper limbs | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 24848981[PMID]_24375490[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/435660
- This record as JSON: /data/d/435660.json