ORPHA:714429
Pseudo-TORCH syndrome type 3
Synonyms: Pseudo-TORCH syndrome associated to STAT2 mutation · STAT2-related pseudo-TORCH syndrome · PTORCH3 · Pseudo-TORCH syndrome-3
- Type
- Disease
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pseudo-TORCH syndrome type 3 | Pseudo-TORCH syndrome associated to STAT2 mutation · STAT2-related pseudo-TORCH syndrome · PTORCH3 · Pseudo-TORCH syndrome-3 |
| fr | Syndrome pseudo-TORCH type 3 | PTORCH3 · Pseudo-TORCH syndrome-3 · Syndrome de pseudo-TORCH associé à des mutations de STAT2 |
| de | Pseudo-TORCH-Syndrom Typ 3 | Pseudo-TORCH-Syndrom, STAT2-assoziiertes · PTORCH3 |
| es | Síndrome pseudo-TORCH tipo 3 | Síndrome pseudo-TORCH asociado al gen STAT2 · PTORCH3 · Síndrome pseudo-TORCH asociado a una mutación en el gen STAT2 · Síndrome pseudo-TORCH 3 |
| it | Sindrome Pseudo-TORCH tipo 3 | Sindrome Pseudo-TORCH-3 · Sindrome Pseudo-TORCH correlata a STAT2 · Sindrome pseudo-TORCH associata a mutazione del gene STAT2 · PTORCH3 |
| nl | Pseudo-TORCH-syndroom type 3 | Pseudo-TORCH-syndroom geassocieerd met STAT2-mutatie · STAT2-gerelateerd pseudo-TORCH-syndroom · PTORCH3 · Pseudo-TORCH-syndroom-3 |
| pt | Pseudo-TORCH syndrome type 3 | |
| pl | Zespół pseudo-TORCH typu 3 | = en |
| cs | Pseudo-TORCH syndrome type 3 | = 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 (4):
- ORPHA:102005Brain inflammatory disease
rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:477647Type 1 interferonopathy
rare genetic diseases; rare systemic and rheumatological diseases - ORPHA:481671Type 1 interferonopathy of childhood
rare systemic or rheumatologic diseases of childhood
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| STAT2 | Disease-causing germline mutation(s) in | Assessed | HGNC:11363 | ENSG00000170581 | 600556 | 12q13.3 | signal transducer and activator of transcription 2 | 31836668[PMID]_32092142[PMID]_36753016[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 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/714429
- This record as JSON: /data/d/714429.json