Pseudo-TORCH syndrome type 2
Synonyms: Pseudo-TORCH syndrome due to USP18 deficiency · USP18-related pseudo-TORCH syndrome · PTORCH2 · Pseudo-TORCH syndrome-2
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare genetic neurological disorder characterized by severe pseudo-TORCH syndrome with signs of brain damage and occasionally systemic manifestations resembling the sequelae of congenital infection, but in the absence of an infectious agent. Characteristic features include microcephaly, white matter disease, cerebral atrophy, cerebral hemorrhage, and calcifications, among others. Affected individuals typically have seizures and respiratory insufficiency and die in infancy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pseudo-TORCH syndrome type 2 | Pseudo-TORCH syndrome due to USP18 deficiency · USP18-related pseudo-TORCH syndrome · PTORCH2 · Pseudo-TORCH syndrome-2 |
| fr | Syndrome pseudo-TORCH type 2 | Syndrome pseudo-TORCH par déficit en USP18 · PTORCH2 · Pseudo-TORCH syndrome-2 |
| de | Pseudo-Torch-Syndrom Typ 2 | PTORCH2 · USP18-Mangel · USP18-Defizienz · Pseudo-TORCH-Syndrom durch USP18-Mangel |
| es | Síndrome pseudo-TORCH tipo 2 | Síndrome pseudo-TORCH por deficiencia de USP18 · Síndrome pseudo-TORCH asociado al gen USP18 · PTORCH2 · Síndrome pseudo-TORCH 2 |
| it | Sindrome pseudo-TORCH tipo 2 | PTORCH2 · Sindrome pseudo-TORCH-2 · Sindrome pseudo-TORCH correlata a USP18 · Sindrome pseudo-TORCH da deficit di USP18 |
| nl | Pseudo-TORCH-syndroom type 2 | USP18-gerelateerd pseudo-TORCH-syndroom · PTORCH2 · Pseudo-TORCH-syndroom-2 · Pseudo-TORCH-syndroom door USP18-deficiëntie |
| pt | Défice de UPS18 | |
| pl | Zespół pseudo-TORCH typu 2 | = en |
| cs | USP18 deficit | = en |
| uk | Дефіцит USP18 | |
| zh | USP18缺乏症 | |
| tr | USP18 eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617397 | E | validated | |
| ICD-10 | Q04.8 | NTBT | attributed | validated |
| MONDO | 0018828 | E | validated | |
| UMLS | C4479376 | 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 (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.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| USP18 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12616 | ENSG00000184979 | 607057 | 22q11.21 | ubiquitin specific peptidase 18 | 27325888[PMID]_27821552[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 27821552[PMID]_2732588[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27821552[PMID]_2732588[PMID] |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/481665
- This record as JSON: /data/d/481665.json