ORPHA:225713
Other metabolic disease 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 | Other metabolic disease with epilepsy | |
| fr | Autre maladie métabolique avec épilepsie | |
| de | Andere Stoffwechselstörung mit Epilepsie | |
| es | Otras enfermedades metabólicas con epilepsia | |
| it | Altra malattia metabolica associata a epilessia | |
| nl | Andere stofwisselingsziekte met epilepsie | |
| pt | Outra doença metabólica com epilepsia | |
| pl | Inne choroby metaboliczne z padaczką | |
| cs | Ostatní metabolická onemocnění s epilepsií | |
| uk | Інші метаболічні захворювання з епілепсією | |
| zh | 其他代谢疾病伴癫痫 | |
| tr | Epilepsi ile seyreden diğer metabolik hastalık |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 16406 | E | validated | |
| UMLS | C5680903 | 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 (11):
- ORPHA:46Adenylosuccinate lyase deficiency
- ORPHA:2388Choreoacanthocytosis
- ORPHA:71277Classic glucose transporter type 1 deficiency syndrome
- ORPHA:319651Constitutional megaloblastic anemia with severe neurologic disease
- ORPHA:395Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- ORPHA:457375ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
- ORPHA:597874MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome
- ORPHA:59306McLeod neuroacanthocytosis syndrome
- ORPHA:217382Neurodegenerative syndrome due to cerebral folate transport deficiency
- ORPHA:708651Phosphoribosylformylglycinamidine synthase deficiency
- ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
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/225713
- This record as JSON: /data/d/225713.json