ORPHA:696189
Congenital generalized lipodystrophy type 1
Synonyms: BSCL type 1 · Berardinelli-Seip syndrome type 1 · CGL1
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- 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 1 | BSCL type 1 · Berardinelli-Seip syndrome type 1 · CGL1 |
| fr | Lipodystrophie généralisée congénitale de type 1 | BSCL type 1 · LCG1 · Syndrome de Berardinelli-Seip type 1 |
| de | Lipodystrophie, generalisierte kongenitale, Typ 1 | BSCL Typ 1 · Berardinelli-Seip-Syndrom Typ 1 · CGL1 |
| es | Lipodistrofia congénita generalizada tipo 1 | BSCL tipo 1 · CGL1 · LCG1 · Síndrome de Berardinelli-Seip tipo 1 |
| it | Lipodistrofia generalizzata congenita tipo 1 | BSCL tipo 1 · Sindrome di Berardinelli-Seip tipo 1 · CGL1 |
| nl | Congenitale gegeneraliseerde lipodystrofie type 1 | BSCL type 1 · CGL1 · Syndroom van Berardinelli-Seip type 1 |
| pt | Congenital generalized lipodystrophy type 1 | |
| pl | Congenital generalized lipodystrophy type 1 | = en |
| cs | Congenital generalized lipodystrophy type 1 | = en |
2
Cross-references
qualifier = Orphanet mapping relationE exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AGPAT2 | Disease-causing germline mutation(s) in | Assessed | HGNC:325 | ENSG00000169692 | 603100 | 9q34.3 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | 20301391[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 126 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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/696189
- This record as JSON: /data/d/696189.json