ORPHA:729224
Epilepsy-mild cortical malformation-oligodendroglial hyperplasia
Synonyms: Mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy · MOGHE
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult, Childhood
- 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 | Epilepsy-mild cortical malformation-oligodendroglial hyperplasia | Mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy · MOGHE |
| fr | Epilepsie-malformation corticale légère-hyperplasie oligodendrogliale | MOGHE |
| de | Epilepsie mit milder kortikaler Fehlbildung und oligodendroglialer Hyperplasie | MOGHE · Milde kortikale Entwicklungsfehlbildung mit oligodendroglialer Hyperplasie und Epilepsie |
| es | Epilepsia-malformación cortical leve-hiperplasia oligodendroglial | Malformación leve del desarrollo cortical con hiperplasia oligodendroglial y epilepsia · Síndrome MOGHE |
| it | Epilessia-malformazione corticale lieve-iperplasia oligodendrogliale | MOGHE · Malformazione lieve dello sviluppo corticale con iperplasia oligodendrogliale ed epilessia |
| nl | Epilepsie - milde corticale malformatie - oligodendrogliale hyperplasie | MOGHE · Milde malformatie van corticale ontwikkeling met oligodendrogliale hyperplasie en epilepsie · Lichte misvorming van hersenschorsontwikkeling met hyperplasie van oligodendrocyten en epilepsie · Milde MCD met oligodendrogliale hyperplasie en epilepsie |
| pt | Epilepsy-mild cortical malformation-oligodendroglial hyperplasia | |
| pl | Epilepsy-mild cortical malformation-oligodendroglial hyperplasia | = en |
| cs | Epilepsy-mild cortical malformation-oligodendroglial hyperplasia | = en |
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Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:268950Cerebral cortical dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC35A2 | Disease-causing somatic mutation(s) in | Assessed | HGNC:11022 | ENSG00000102100 | 314375 | Xp11.23 | solute carrier family 35 member A2 | 39165213[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 113 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | Unknown | — | 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/729224
- This record as JSON: /data/d/729224.json