ORPHA:1229
Pseudo-TORCH syndrome type 1
Synonyms: Pseudo-TORCH syndrome due to OCLN deficiency · OCLN-related pseudo-TORCH syndrome · BLC-PMG · Band like calcification with simplified gyration and polymicrogyria · Bilateral band-like calcification with polymicrogyria · Microcephaly-intracranial calcification-intellectual disability syndrome · PTORCH1 · Pseudo-TORCH syndrome-1
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pseudo-TORCH syndrome type 1 | Pseudo-TORCH syndrome due to OCLN deficiency · OCLN-related pseudo-TORCH syndrome · BLC-PMG · Band like calcification with simplified gyration and polymicrogyria · Bilateral band-like calcification with polymicrogyria · Microcephaly-intracranial calcification-intellectual disability syndrome · PTORCH1 · Pseudo-TORCH syndrome-1 |
| fr | Syndrome pseudo-TORCH type 1 | Syndrome pseudo-TORCH par déficit en OCLN · BLC-PMG · Calcifications bilatérales en bande associées à une polymicrogyrie · Calcifications en bande associées à une gyration simplifiée et à une polymicrogyrie · PTORCH1 · Pseudo-TORCH syndrome-1 · Syndrome de microcéphalie-calcifications intracrâniennes-déficience intellectuelle |
| de | Pseudo-TORCH-Syndrom Typ 1 | Pseudo-TORCH-Syndrom, OCLN-assoziiertes · BLC-PMG · Bilaterale band-ähnliche Kalzifizierung mit Polymikrogyrie · Mikrozephalie-intrakranielle Verkalkung-Intelligenzminderung-Syndrom · PTORCH1 |
| es | Síndrome pseudo-TORCH tipo 1 | BLC-PMG · Síndrome pseudo-TORCH asociado al gen OCLN · Síndrome pseudo-TORCH por deficiencia de OCLN · Calcificaciones en banda con patrón giral simplificado y polimicrogiria · Calcificación bilateral en bandas con polimicrogiria · PTORCH1 · Síndrome de microcefalia-calcificación intracraneal-discapacidad intelectual · Síndrome pseudo-TORCH 1 |
| it | Sindrome pseudo-TORCH tipo 1 | BLC-PMG · Calcificazione bilaterale a banda con polimicrogiria · Calcificazione a banda con semplificazione delle circonvoluzioni e polimicrogiria · Sindrome pseudo-TORCH-1 · Sindrome pseudo-TORCH correlata a OCLN · Sindrome pseudo-TORCH da deficit di OCLN · Sindrome microcefalia-calcificazione intracranica-disabilità cognitiva · PTORCH1 |
| nl | Pseudo-TORCH-syndroom type 1 | Pseudo-TORCH-syndroom door OCLN-deficiëntie · OCLN-gerelateerd pseudo-TORCH-syndroom · BLC-PMG · Bandachtige calcificatie met verminderd aantal hersenwindingen en polymicrogyrie · Bilaterale bandachtige calcificatie met polymicrogyrie · Microcefalie - intracraniële calcificatie - intellectuele achterstand-syndroom · PTORCH1 · Pseudo-TORCH-syndroom-1 |
| pt | Síndrome Pseudo-TORCH tipo 1 | Síndrome Baraitser-Reardon · Síndrome de microcefalia-calcificação intracraniana-perturbação do desenvolvimento intelectual · BLC-PMG · Calcificação em forma de faixa com girificação simplificada e polimicrogiria · PTORCH1 · Calcificação bilateral em bandas com polimicrogíria · Síndrome pseudo-TORCH-1 · Síndrome Baraitser-Brett-Piesowicz |
| pl | Zespół pseudo-TORCH typu 1 | BLC-PMG · Małogłowie - zwapnienia wewnątrzczaszkowe - niepełnosprawność intelektualna · Obustronne zwapnienia z polimikrogyrią · Zespół Baraitsera i Reardon · Zespół Baraitsera, Bretta i Piesowicza · Zespół pseudo-TORCH |
| cs | Pseudo-TORCH syndrom | Syndrom imitující vrozenou infekci · BLC-PMG · Bilaterální pruhovité kalcifikace s polymikrogyrií · Syndrom zahrnující mikrocefalii, intrakraniální kalcifikace a mentální retardaci · Baraitserův-Brettův-Piesowiczův syndrom · Baraitserův-Reardonův syndrom · Baraitser-Brett-Piesowiczův syndrom · Baraitser-Reardonův syndrom |
| uk | Синдром подібний вродженій внутрішньоутробній інфекції | Синдром Барайзера-Бретта-Песовича · Синдром Барайзера-Рірдона · Двосторонній стрічкоподібний кальциноз з полімікрогірією · BLC-PMG · Синдром мікроцефалії - внутрішньочерепної кальцифікації - інтелектуальної недостатності · Псевдо-TORCH синдром |
| zh | 先天性宫内感染样综合征 | 小头畸形-颅内钙化-智力障碍综合征 |
| tr | Doğumsal intrauterin enfeksiyon benzeri sendrom | BLC-PMG · Psedö-TORCH sendromu · Baraitser-Reardon sendromu · Baraitser-Brett-Piesowicz sendromu · Polimikrogri ile seyreden bilateral bant benzeri kireçlenme · Mikrosefali-intrakraniyal kalsifikasyon-zihinsel yetersizlik sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 251290 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD20.2 | NTBT | index | validated |
| MONDO | 0009626 | E | validated | |
| MeSH | C537905 | E | validated | |
| UMLS | C2931662 | E | validated | |
| GARD | 12426 | E | 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 (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:269528Syndrome with microcephaly as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| OCLN | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:8104 | ENSG00000197822 | 602876 | 5q13.2 | occludin | 20727516[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 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
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002514 | Cerebral calcification | |
| HP:0001347 | Hyperreflexia | |
| HP:0000252 | Microcephaly | |
| HP:0001250 | Seizure | |
| HP:0001257 | Spasticity | |
| Frequent (79-30%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0002120 | Cerebral cortical atrophy | |
Run the differential on the 5 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1229
- This record as JSON: /data/d/1229.json