ORPHA:730286
Megalencephaly-postaxial polydactyly-ventriculomegaly-neuroblastoma syndrome
- 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
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Megalencephaly-postaxial polydactyly-ventriculomegaly-neuroblastoma syndrome | |
| fr | Syndrome de mégalencéphalie-polydactylie postaxiale-ventriculomégalie-neuroblastome | |
| de | Megalenzephalie-postaxiale Polydaktylie-Ventrikulomegalie-Neuroblastom-Syndrom | |
| es | Síndrome de megalencefalia-polidactilia postaxial-ventriculomegalia-neuroblastoma | |
| it | Sindrome megalencefalia-polidattilia postassiale-ventricolomegalia-neuroblastoma | |
| nl | Megalencefalie - postaxiale polydactylie - ventriculomegalie - neuroblastoom-syndroom | |
| pt | Megalencephaly-postaxial polydactyly-ventriculomegaly-neuroblastoma syndrome | |
| pl | Megalencephaly-postaxial polydactyly-ventriculomegaly-neuroblastoma syndrome | |
| cs | Megalencephaly-postaxial polydactyly-ventriculomegaly-neuroblastoma syndrome |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620748 | 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 |
|---|---|---|---|---|---|---|---|---|
| MYCN | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:7559 | ENSG00000134323 | 164840 | 2p24.3 | MYCN proto-oncogene, bHLH transcription factor | 37710961[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/730286
- This record as JSON: /data/d/730286.json