Hypomyelination with brain stem and spinal cord involvement and leg spasticity
Synonyms: HBSL
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Infancy, Neonatal
- Status
- active
A rare genetic leukodystrophy characterized by diffuse hypomyelination in the supratentorial brain white matter, brain stem and spinal cord. Patients usually present nystagmus, lower limb spasticity, hypotonia, and motor developmental delay, as well as MRI signal abnormalities involving the corpus callosum, anterior brainstem, pyramidal tracts, superior and inferior cerebellar peduncles, dorsal columns and/or lateral corticospinal tracts.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypomyelination with brain stem and spinal cord involvement and leg spasticity | HBSL |
| fr | Hypomyélinisation avec atteinte du tronc cérébral et de la moelle épinière et spasticité des jambes | = en |
| de | Hypomyelinisierung mit Hirnstamm- und Rückenmarkbeteiligung und Beinspastik | = en |
| es | Hipomielinización con afectación del tronco cerebral y de la médula espinal y espasticidad de las piernas | = en |
| it | Ipomielinizzazione con interessamento del tronco encefalico e del midollo spinale associata a spasticità delle gambe | = en |
| nl | Hypomyelinisatie met betrokkenheid van hersenstam en ruggenmerg en beenspasticiteit | |
| pt | Hipomielinização com envolvimento do tronco cerebral e da medula espinhal e espasticidade das pernas | |
| pl | Hipomielinizacja obejmująca pień mózgu i rdzeń kręgowy i sztywność nóg | = en |
| cs | Hypomyelinizace s postižením mozkového kmene a míchy a spasticitou dolních končetin | = en |
| uk | Гіпомієлінізація із залученням стовбура головного та спинного мозку та спастичністю ніг | = en |
| zh | 髓鞘形成不良伴脑干和脊髓受累及腿部痉挛 | = en |
| tr | Beyin sapı ve omurilik tutulumu ve bacak spastisitesi ile seyreden hipomiyelinasyon | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615281 | E | validated | |
| ICD-10 | E75.2 | NTBT | attributed | validated |
| MONDO | 0014115 | E | validated | |
| UMLS | C4755254 | 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:68356Leukodystrophy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DARS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2678 | ENSG00000115866 | 603084 | 2q21.3 | aspartyl-tRNA synthetase 1 | 23643384[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 25527264[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25527264[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/363412
- This record as JSON: /data/d/363412.json