ORPHA:729649
Early-onset leucoencephalopaty-spasticity-stroke-neurodevelopmental disorder
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Early-onset leucoencephalopaty-spasticity-stroke-neurodevelopmental disorder | |
| fr | Leucoencéphalopathie à début précoce-spasticité-accident vasculaire cérébral ischémique-trouble du neurodéveloppement | |
| de | Früh beginnende Leukoenzephalopathie mit Spastik, Schlaganfall und neurologischer Entwicklungsstörung | |
| es | Leucoencefalopatía-espasticidad-accidente cerebrovascular-trastorno del neurodesarrollo de inicio precoz | |
| it | Leucoencefalopatia ad esordio precoce-spasticità-ictus-malattia del neurosviluppo | |
| nl | Vroeg optredende leuko-encefalopathie - spasticiteit - cerebrovasculair accident - neurologische ontwikkelingsstoornis | Vroeg optredende leukencefalopathie - spasticiteit - beroerte - neurologische ontwikkelingsstoornis |
| pt | Early-onset-leucoencephalopaty-spasticity-stroke-neurodevelopmental disorder | |
| pl | Early-onset leucoencephalopaty-spasticity-stroke-neurodevelopmental disorder | |
| cs | Early-onset leucoencephalopaty-spasticity-stroke-neurodevelopmental disorder |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 125310 | NTBT | 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 (4):
- ORPHA:477754Genetic cerebral small vessel disease
rare genetic diseases; rare neurological diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:68356Leukodystrophy
rare genetic diseases; rare neurological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NOTCH3 | Disease-causing germline mutation(s) in | Assessed | HGNC:7883 | ENSG00000074181 | 600276 | 19p13.12 | notch receptor 3 | 39191170[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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/729649
- This record as JSON: /data/d/729649.json