ORPHA:363540
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A rare neurologic disease characterized by a specific pattern of white matter abnormalities on brain imaging (magnetic resonance imaging, MRI), as well as mild ataxia, headaches, mild visual impairment, learning difficulties and cases of male infertility.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Leukoencephalopathy with mild cerebellar ataxia and white matter edema | |
| fr | Leucoencéphalopathie avec ataxie cérébelleuse modérée et oedème de la substance blanche | |
| de | Leukoenzephalopathie mit milder zerebellärer Ataxie und Ödem der weißen Substanz | |
| es | Leucoencefalopatía con ataxia cerebelosa leve y edema de sustancia blanca | |
| it | Leucoencefalopatia con lieve atassia cerebellare ed edema della sostanza bianca | |
| nl | Leuko-encefalopathie met milde cerebellaire ataxie en oedeem van witte stof | |
| pt | Leucoencefalopatia com ataxia cerebelosa ligeira e edema da substância branca | |
| pl | Leukoencefalopatia z łagodną ataksją móżdżkową i obrzękiem istoty białej | |
| cs | Leukoencefalopatie s mírnou cerebelární ataxií a edémem bílé hmoty | Leukoencefalopatie s mírnou mozečkovou ataxií a edémem bílé hmoty |
| uk | Лейкоенцефалопатія з легкою мозочковою атаксією та набряком білої речовини | |
| zh | 脑白质病伴轻度小脑共济失调和脑白质水肿 | |
| tr | Hafif serebellar ataksi ve beyaz cevher ödem ile seyreden lökoensefalopati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615651 | E | validated | |
| ICD-10 | E75.2 | NTBT | attributed | validated |
| MONDO | 0014292 | E | validated | |
| UMLS | C4554120 | 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:538238Neurological channelopathy of the central nervous system due to a genetic chloride channel defect
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CLCN2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2020 | ENSG00000114859 | 600570 | 3q27.1 | chloride voltage-gated channel 2 | 23707145[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 23707145[PMID] | |
| 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.
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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/363540
- This record as JSON: /data/d/363540.json