ORPHA:438114
RARS-related autosomal recessive hypomyelinating leukodystrophy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic leukodystrophy characterized by developmental delay, increased muscle tone leading later to spasticity, mild ataxia, nystagmus, dysarthria, intentional tremor, and mild intellectual disability. Brain imaging reveals supratentorial and infratentorial hypomyelination.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | RARS-related autosomal recessive hypomyelinating leukodystrophy | |
| fr | Leucodystrophie hypomyélinisante autosomique récessive associée à RARS | |
| de | Hypomyelinisierende Leukodystrophie, RARS-abhängige, autosomal-rezessive | |
| es | Leucodistrofia hipomielinizante autosómica recesiva asociada a RARS | |
| it | Leucodistrofia ipomielinizzante autosomica recessiva correlata a RARS | |
| nl | RARS-gerelateerde autosomaal recessieve hypomyeliniserende leukodystrofie | |
| pt | Leucodistrofia hipomielinizante autossómica recessiva RARS-relacionada | |
| pl | Autosomalna recesywna leukodystrofia hipomielinizująca zależna od RARS | |
| cs | RARS-vázaná autozomálně recesivní hypomyelinizační leukodystrofie | |
| uk | RARS-повязана аутосомно-рецесивна гіпомієлінізуюча лейкодистрофія | |
| zh | RARS相关常染色体隐性遗传性低髓鞘性脑白质营养不良 | |
| tr | RARS-ilişkili otozomal resesif hipomiyelinizan lökodistrofi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616140 | E | validated | |
| ICD-10 | E75.2 | NTBT | attributed | validated |
| MONDO | 0014506 | E | validated | |
| UMLS | C4015323 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:68356Leukodystrophy
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RARS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9870 | ENSG00000113643 | 107820 | 5q34 | arginyl-tRNA synthetase 1 | 24777941[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 24777941[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24777941[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.
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HPO phenotypes
27 annotations · validated 2019-02-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001251 | Ataxia | |
| HP:0008936 | Axial hypotonia | |
| HP:0006808 | Cerebral hypomyelination | |
| HP:0007281 | Developmental stagnation | |
| HP:0001260 | Dysarthria | |
| HP:0001310 | Dysmetria | |
| HP:0001332 | Dystonia | |
| HP:0001288 | Gait disturbance | |
| HP:0001263 | Global developmental delay | |
| HP:0030890 | Hyperintensity of cerebral white matter on MRI | |
| HP:0001347 | Hyperreflexia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002080 | Intention tremor | |
| HP:0006895 | Lower limb hypertonia | |
| HP:0002061 | Lower limb spasticity | |
| HP:0000639 | Nystagmus | |
| HP:0002421 | Poor head control | |
| HP:0007153 | Progressive extrapyramidal movement disorder | |
| HP:0000817 | Reduced eye contact | |
| Occasional (29-5%) | ||
| HP:0007179 | Absent smooth pursuit | |
| HP:0002506 | Diffuse cerebral atrophy | |
| HP:0007359 | Focal-onset seizure | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0000252 | Microcephaly | |
| HP:0007024 | Pseudobulbar paralysis | |
| HP:0002013 | Vomiting | |
Annotation source: 24777941[PMID]_13558772[PMID]_27234264[PMID]_25649058[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/438114
- This record as JSON: /data/d/438114.json