ORPHA:225689
Amino acid or protein metabolism 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 | Amino acid or protein metabolism disease with epilepsy | |
| fr | Anomalie du métabolisme des acides aminés ou des protéines avec épilepsie | |
| de | Aminosäure/Protein-Stoffwechselstörung mit Epilepsie | |
| es | Anomalía del metabolismo de los aminoácidos o de las proteínas con epilepsia | |
| it | Malattia del metabolismo delle proteine o degli aminoacidi associata a epilessia | |
| nl | Aminozuur- of eiwitstofwisselingsziekte met epilepsie | |
| pt | Doença do metabolismo dos aminoácidos ou de proteínas com epilepsia | |
| pl | Choroba metabolizmu aminokwasów lub białek z padaczką | |
| cs | Porucha metabolismu aminokyselin nebo proteinů s epilepsií | |
| uk | Захворювання амінокислотного або білкового обміну з епілепсією | |
| zh | 氨基酸或蛋白质代谢疾病伴癫痫 | |
| tr | Epilepsi ile seyreden amino asit veya protein metabolizması hastalığı |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 16399 | E | validated | |
| UMLS | C5680894 | 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 (13):
- ORPHA:192-hydroxyglutaric aciduria
- ORPHA:791572-methylbutyryl-CoA dehydrogenase deficiency
- ORPHA:5052163-methylglutaconic aciduria type 9
- ORPHA:308410Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
- ORPHA:141Canavan disease
- ORPHA:833Encephalopathy due to sulfite oxidase deficiency
- ORPHA:407Glycine encephalopathy
- ORPHA:394Homocystinuria due to cystathionine beta-synthase deficiency
- ORPHA:309147Hyper-beta-alaninemia
- ORPHA:419Hyperprolinemia type 1
- ORPHA:79101Hyperprolinemia type 2
- ORPHA:557064Neonatal epileptic encephalopathy due to glutaminase deficiency
- ORPHA:716Phenylketonuria
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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/225689
- This record as JSON: /data/d/225689.json