Cystic leukoencephalopathy without megalencephaly
Synonyms: CLWM
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Cystic leukoencephalopathy without megalencephaly is characterised by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. Less than 50 patients have been described in the literature so far. Inheritance is most likely autosomal recessive.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cystic leukoencephalopathy without megalencephaly | CLWM |
| fr | Leucoencéphalopathie kystique sans mégalencéphalie | = en |
| de | Zystische Leukoenzephalopathie ohne Megalenzephalie | = en |
| es | Leucoencefalopatía quística sin megalencefalia | = en |
| it | Leucoencefalopatia cistica senza megalencefalia | = en |
| nl | Cystische leuko-encefalopathie zonder megalencefalie | = en |
| pt | Leucoencefalopatia quística sem megalencefalia | |
| pl | Leukoencefalopatia torbielowata bez wielkomózgowia | = en |
| cs | Cystická leukoencefalopatie bez megalencefalie | = en |
| uk | Кістозна лейкоенцефалопатія без мегаленцефалії | = en |
| zh | 囊性脑白质营养不良不伴巨脑 | = en |
| tr | Megalensefalisiz kistik lökoensefalopati | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612951 | BTNT | validated | |
| OMIM | 618235 | BTNT | validated | |
| ICD-10 | E75.2 | NTBT | attributed | validated |
| ICD-11 | 5C55.2 | NTBT | index | validated |
| MONDO | 0013058 | E | validated | |
| MeSH | C567845 | E | validated | |
| UMLS | C2751843 | E | validated | |
| GARD | 13199 | 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
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NDUFA2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7685 | ENSG00000131495 | 602137 | 5q31.3 | NADH:ubiquinone oxidoreductase subunit A2 | 28857146[PMID] |
| RNASET2 | Disease-causing germline mutation(s) in | Assessed | HGNC:21686 | ENSG00000026297 | 612944 | 6q27 | ribonuclease T2 | 19525954[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85136
- This record as JSON: /data/d/85136.json