ORPHA:225707
Metabolic neurotransmission anomaly with epilepsy
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Metabolic neurotransmission anomaly with epilepsy | |
| fr | Maladie métabolique par anomalie de la neurotransmission avec épilepsie | |
| de | Metabolische Neurotransmitter-Anomalie mit Epilepsie | |
| es | Enfermedad metabólica por anomalía de la neurotransmisión con epilepsia | |
| it | Anomalie metabolica della neurotrasmissione associata a epilessia | |
| nl | Metabole neurotransmissie-anomalie met epilepsie | |
| pt | Anomalia da neurotransmissão metabólica com epilepsia | |
| pl | Wada metabolizmu neuroprzekaźników z padaczką | |
| cs | Anomálie neurotransmise s epilepsií | |
| uk | Метаболічна аномалія нейротрансмісії з епілепсією | |
| zh | 代谢神经传递异常伴癫痫 | |
| tr | Epilepsi ile seyreden metabolik nörotransmisyon anomalisi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 16404 | E | validated | |
| UMLS | C5680901 | 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 (1):
- ORPHA:166481Metabolic diseases with epilepsy
rare genetic diseases; rare neurological diseases
Children (7):
- ORPHA:65287Beta-ureidopropionase deficiency
- ORPHA:2066Gamma-aminobutyric acid transaminase deficiency
- ORPHA:79219Metabolic disease involving other neurotransmitter deficiency
- ORPHA:79096Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy
- ORPHA:3006Pyridoxine-dependent-developmental and epileptic encephalopathy
- ORPHA:675775Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome
- ORPHA:22Succinic semialdehyde dehydrogenase deficiency
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
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/225707
- This record as JSON: /data/d/225707.json