Pediatric multiple sclerosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Childhood
- Status
- active
Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on initial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pediatric multiple sclerosis | |
| fr | Sclérose en plaques de l'enfant | Sclérose en plaques pédiatrique |
| de | Multiple Sklerose, pädiatrische | Multiple Sklerose des Kindes |
| es | Esclerosis múltiple pediátrica | |
| it | Sclerosi multipla pediatrica | |
| nl | Pediatrische multipele sclerose | |
| pt | Esclerose múltipla pediátrica | |
| pl | Dziecięce stwardnienie rozsiane | |
| cs | Dětská roztroušená skleróza | |
| uk | Дитячий розсіяний склероз | |
| zh | 儿童多发性硬化 | |
| tr | Pediatrik çoklu skleroz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G35 | NTBT | attributed | validated |
| MONDO | 0018784 | E | validated | |
| UMLS | C5568571 | E | validated | |
| GARD | 10443 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:228145Multiple sclerosis variant
rare neurological diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HLA-DQB1 | Biomarker tested in | Not yet assessed | HGNC:4944 | ENSG00000179344 | 604305 | 6p21.32 | major histocompatibility complex, class II, DQ beta 1 | 14669136[PMID]_8181961[PMID] |
| HLA-DRB1 | Biomarker tested in | Not yet assessed | HGNC:4948 | ENSG00000196126 | 142857 | 6p21.32 | major histocompatibility complex, class II, DR beta 1 | 14669136[PMID]_8181961[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/477738
- This record as JSON: /data/d/477738.json