ORPHA:371442
Sphingolipidosis 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 | Sphingolipidosis with epilepsy | |
| fr | Sphingolipidose avec épilepsie | |
| de | Sphingolipidose mit Epilepsie | |
| es | Esfingolipidosis con epilepsia | |
| it | Sfingolipidosi con epilessia | |
| nl | Sfingolipidose met epilepsie | |
| pt | Esfingolipidose com epilepsia | |
| pl | Sfingolipidoza z padaczką | |
| cs | Sfingolipidóza s epilepsií | |
| uk | Сфінголіпідоз з епілепсією | |
| zh | 鞘脂类代谢障碍伴癫痫 | |
| tr | Epilepsi ile seyreden sfingolipidoz |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 18299 | E | validated | |
| UMLS | C5681152 | 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:225681Lysosomal disease with epilepsy
rare genetic diseases; rare neurological diseases
Children (12):
- ORPHA:618891Chronic neurovisceral acid sphingomyelinase deficiency
- ORPHA:139406Encephalopathy due to prosaposin deficiency
- ORPHA:324Fabry disease
- ORPHA:333Farber disease
- ORPHA:309144Gangliosidosis
- ORPHA:77260Gaucher disease type 2
- ORPHA:77261Gaucher disease type 3
- ORPHA:77292Infantile neurovisceral acid sphingomyelinase deficiency
- ORPHA:487Krabbe disease
- ORPHA:512Metachromatic leukodystrophy
- ORPHA:585Multiple sulfatase deficiency
- ORPHA:646Niemann-Pick disease type C
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/371442
- This record as JSON: /data/d/371442.json