ORPHA:696289
Congenital generalized lipodystrophy type 2
Synonyms: BSCL type 2 · Berardinelli-Seip syndrome type 2 · CGL2
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital generalized lipodystrophy type 2 | BSCL type 2 · Berardinelli-Seip syndrome type 2 · CGL2 |
| fr | Lipodystrophie généralisée congénitale de type 2 | BSCL type 2 · LCG2 · Syndrome de Berardinelli-Seip type 2 |
| de | Lipodystrophie, generalisierte kongenitale, Typ 2 | BSCL Typ 2 · Berardinelli-Seip-Syndrom Typ 2 · CGL2 |
| es | Lipodistrofia congénita generalizada tipo 2 | BSCL tipo 2 · CGL2 · LCG2 · Síndrome de Berardinelli-Seip tipo 2 |
| it | Lipodistrofia generalizzata congenita tipo 2 | BSCL tipo 2 · Sindrome di Berardinelli-Seip tipo 2 · CGL2 |
| nl | Congenitale gegeneraliseerde lipodystrofie type 2 | BSCL type 2 · CGL2 · Syndroom van Berardinelli-Seip type 2 |
| pt | Congenital generalized lipodystrophy type 2 | |
| pl | Congenital generalized lipodystrophy type 2 | = en |
| cs | Congenital generalized lipodystrophy type 2 | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 269700 | E | validated | |
| ICD-10 | E88.1 | NTBT | attributed | not yet 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:528Congenital generalized lipodystrophy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare skin diseases; rare endocrine diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BSCL2 | Disease-causing germline mutation(s) in | Assessed | HGNC:15832 | ENSG00000168000 | 606158 | 11q12.3 | BSCL2 lipid droplet biogenesis associated, seipin | 20301391[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 500 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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.
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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/696289
- This record as JSON: /data/d/696289.json