ORPHA:662234
Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome
Synonyms: Radio-Tartaglia syndrome · SPEN-related neurodevelopmental disorder
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome | Radio-Tartaglia syndrome · SPEN-related neurodevelopmental disorder |
| fr | Syndrome de retard neurodevelopmental-malformations cardiaques congénitales-déficience intellectuelle | Syndrome de Radio-Tartaglia · Trouble neurologique du développement associé à SPEN |
| de | Neurologische Entwicklungsverzögerung-kongenitale Herzfehler-Intelligenzminderung-Syndrom | Neurologische Entwicklungsstörung, SPEN-assoziierte · Radio-Tartaglia-Syndrom |
| es | Síndrome de retraso del neurodesarrollo-cardiopatías congénitas-discapacidad intelectual | Síndrome de Radio-Tartaglia · Trastorno del neurodesarrollo asociado al gen SPEN |
| it | Sindrome ritardo dello sviluppo neurologico-cardiopatie congenite-disabilità intellettiva | Malattia del neurosviluppo correlata a SPEN · Sindrome di Radio-Tartaglia |
| nl | Neurologische ontwikkelingsachterstand - congenitale hartdefecten - intellectuele achterstand-syndroom | SPEN-gerelateerde neurologische ontwikkelingsstoornis · Syndroom van Radio-Tartaglia |
| pt | Síndrome de perturbação do neurodesenvolvimento-anomalias cardíacas congénitas-perturbação do desenvolvimento intelectual | Doença do neurodesenvolvimento SPEN-relacionada · Síndrome Radio-Tartaglia |
| pl | Zespół z opóźnieniem neurorozwojowym, wrodzonymi wadami serca i niepełnosprawnością intelektualną | = en |
| cs | Syndrom zahrnující opoždění neurologického vývoje, vrozené srdeční vady a intelektovou nedostatečnost | = en |
| uk | Синдром затримки нейророзвитку-вроджених вад серця-інтелектуальної недостатності | Синдром радіо-тартаглії · Повязане з SPEN порушення нейророзвитку |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619312 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0859143 | E | validated | |
| MONDO | 859143 | E | validated | |
| UMLS | C5543339 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- 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
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SPEN | Disease-causing germline mutation(s) in | Assessed | HGNC:17575 | ENSG00000065526 | 613484 | 1p36.21-p36.13 | spen family transcriptional repressor | 33596411[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 39431794[PMID]_ORPHANET |
| Cases/families | 35 cases | Worldwide | Case(s) | Validated | 39431794[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.
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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/662234
- This record as JSON: /data/d/662234.json