ORPHA:696242
PPARG-associated congenital generalized lipodystrophy
Synonyms: Berardinelli-Seip syndrome associated to PPARG
- 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 | PPARG-associated congenital generalized lipodystrophy | Berardinelli-Seip syndrome associated to PPARG |
| fr | Lipodystrophie congénitale généralisée associée à PPARG | Syndrome de Berardinelli-Seip associée à PPARG |
| de | PPARG-assoziierte angeborene generalisierte Lipodystrophie | Berardinelli-Seip-Syndrom, PPARG-assoziiertes |
| es | Lipodistrofia congénita generalizada asociada a PPARG | Síndrome de Berardinelli-Seip asociado a PPARG |
| it | Lipodistrofia generalizzata congenita correlata a PPARG | Sindrome di Berardinelli-Seip correlata a PPARG |
| nl | PPARG-geassocieerde congenitale gegeneraliseerde lipodystrofie | Syndroom van Berardinelli-Seip geassocieerd met PPARG |
| pt | PPARG-associated congenital generalized lipodystrophy | |
| pl | PPARG-associated congenital generalized lipodystrophy | = en |
| cs | PPARG-associated congenital generalized lipodystrophy | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| 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.
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 |
|---|---|---|---|---|---|---|---|---|
| PPARG | Disease-causing germline mutation(s) in | Assessed | HGNC:9236 | ENSG00000132170 | 601487 | 3p25.2 | peroxisome proliferator activated receptor gamma | 24980513[PMID]_36806620[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
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/696242
- This record as JSON: /data/d/696242.json