Acquired partial lipodystrophy
Synonyms: Barraquer-Simons syndrome · Progressive cephalothoracic lipodystrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare acquired lipodystrophy characterized by bilateral, symmetrical lipoatrophy of the upper body (face, neck, arms, thorax and sometimes upper abdomen) with sparing of the lower extremities and cephalothoracic progression. The disease may be associated with low serum levels of C3 and presence of C3-nephritic factor.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acquired partial lipodystrophy | Barraquer-Simons syndrome · Progressive cephalothoracic lipodystrophy |
| fr | Lipodystrophie partielle acquise | Lipodystrophie céphalothoracique progressive · Syndrome de Barraquer-Simons |
| de | Lipodystrophie, partielle erworbene | Barraquer-Simons-Syndrom · Lipodystrophie, cephalo-thorakale progressive |
| es | Lipodistrofia parcial adquirida | Lipodistrofia cefalotorácica progresiva · Síndrome de Barraquer-Simons |
| it | Lipodistrofia parziale acquisita | Lipodistrofia cefalotoracica progressiva · Sindrome di Barraquer-Simons |
| nl | Verworven partiële lipodystrofie | Progressieve cefalothoracale lipodystrofie · Syndroom van Barraquer-Simons |
| pt | Lipodistrofia parcial adquirida | Síndrome de Barraquer-Simons |
| pl | Nabyta częściowa lipodystrofia | Postępująca lipodystrofia głowy i klatki piersiowej · Zespół Barraquera i Simonsa |
| cs | Parciální získaná lipodystrofie | Progresivní cefalothorakální lipodystrofie · Barraquerův-Simonsův syndrom · Barraquer-Simonsův syndrom |
| uk | Набута часткова ліподистрофія | Синдром Барракера-Саймонса · Прогресуюча цефалоторакальна ліподистрофія |
| zh | 获得性部分脂质营养不良 | 进行性头胸脂肪营养不良 |
| tr | Edinsel kısmi lipodistrofi | Barraquer-Simons sendromu · İlerleyici sefalotorasik lipodistrofi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608709 | E | validated | |
| ICD-10 | E88.1 | NTBT | attributed | validated |
| ICD-11 | EF01.0 | E | specific | validated |
| MONDO | 0012104 | E | validated | |
| MeSH | C562448 | E | validated | |
| UMLS | C0220989 | E | validated | |
| GARD | 10509 | 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:98307Acquired lipodystrophy
rare skin diseases; rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LMNB2 | Major susceptibility factor in | Assessed | HGNC:6638 | ENSG00000176619 | 150341 | 19p13.3 | lamin B2 | 16826530[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only | Validated | European Medicines Agency 2015[OTHER] |
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
17 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100578 | Lipoatrophy | |
| Frequent (79-30%) | ||
| HP:0002960 | Autoimmunity | |
| HP:0005421 | Decreased circulating complement C3 concentration | |
| HP:0000365 | Hearing impairment | |
| HP:0001249 | Intellectual disability | |
| HP:0100827 | Lymphocytosis | |
| HP:0003198 | Myopathy | |
| HP:0005328 | Progeroid facial appearance | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0002829 | Arthralgia | |
| HP:0002230 | Generalized hirsutism | |
| HP:0100820 | Glomerulopathy | |
| HP:0001397 | Hepatic steatosis | |
| HP:0002721 | Immunodeficiency | |
| HP:0000855 | Insulin resistance | |
| HP:0002907 | Microscopic hematuria | |
| HP:0000093 | Proteinuria | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 24788242[PMID]_1246331[PMID]_18854390[PMID]_16826530[PMID]_22768673[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79087
- This record as JSON: /data/d/79087.json