Leukoencephalopathy with calcifications and cysts
Synonyms: LCC · Labrune syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy
- Status
- active
A rare genetic cerebral small vessel disease characterized by leukoencephalopathy and cerebral calcification and cysts due to diffuse cerebral microangiopathy resulting in microcystic and macrocystic parenchymal degeneration. The condition can present at any age from early childhood to late adulthood and manifests as a progressive cerebral degeneration. Symptoms are variable, but restricted to the central nervous systems, and include, among others, slowing of cognitive performance, seizures, and movement disorder with a combination of pyramidal, extrapyramidal, and cerebellar features.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Leukoencephalopathy with calcifications and cysts | LCC · Labrune syndrome |
| fr | Leucoencéphalopathie avec kystes et calcifications | Syndrome de Labrune |
| de | Leukoenzephalopathie mit Kalzifikationen und Zysten | LCC · Labrune-Syndrom |
| es | Leucoencefalopatía con calcificaciones y quistes | LCC · Síndrome de Labrune |
| it | Leucoencefalopatia con calcificazioni e cisti | |
| nl | Leuko-encefalopathie met calcificaties en cysten | LCC · Syndroom van Labrune |
| pt | Leucoencefalopatia com calcificações e quistos | |
| pl | Leukoencefalopatia ze zwapnieniami i torbielami | Zespół Labrunego |
| cs | Leukoencefalopatie s kalcifikacemi a cystami | LCC · Labrunův syndrom |
| uk | Лейкоенцефалопатія з кальцифікатами та кістами | Синдром Лабрюна · LCC |
| zh | 脑白质病伴钙化和囊肿 | Labrune综合征 |
| tr | Kireçlenme ve kist ile seyreden lökoensefalopati | LCC · Labrune sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614561 | E | validated | |
| ICD-10 | I67.8 | NTBT | attributed | validated |
| MONDO | 0013803 | E | validated | |
| MeSH | C000598644 | E | validated | |
| UMLS | C3281200 | E | validated | |
| GARD | 10732 | E | validated | |
| MedDRA | 10084766 | 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:477754Genetic cerebral small vessel disease
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SNORD118 | Disease-causing germline mutation(s) in | Assessed | HGNC:32952 | ENSG00000200463 | 616663 | 17p13.1 | small nucleolar RNA, C/D box 118 | 28177126[PMID]_27571260[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | 27571260[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27571260[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
27 annotations · validated 2022-10-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002514 | Cerebral calcification | |
| HP:0010576 | Intracranial cystic lesion | |
| HP:0002352 | Leukoencephalopathy | |
| Frequent (79-30%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0001251 | Ataxia | |
| HP:0002135 | Basal ganglia calcification | |
| HP:0100543 | Cognitive impairment | |
| HP:0002461 | Dense calcifications in the cerebellar dentate nucleus | |
| HP:0000712 | Emotional lability | |
| HP:0007229 | Intracerebral periventricular calcifications | |
| HP:0001268 | Mental deterioration | |
| HP:0100320 | Rosenthal fibers | |
| HP:0001250 | Seizure | |
| HP:0007346 | Subcortical white matter calcifications | |
| Occasional (29-5%) | ||
| HP:0001342 | Cerebral hemorrhage | |
| HP:0001260 | Dysarthria | |
| HP:0001332 | Dystonia | |
| HP:0011153 | Focal motor seizure | |
| HP:0001288 | Gait disturbance | |
| HP:0001263 | Global developmental delay | |
| HP:0002516 | Increased intracranial pressure | |
| HP:0007291 | Posterior fossa cyst | |
| HP:0001257 | Spasticity | |
| HP:0001297 | Stroke | |
| HP:0001337 | Tremor | |
| Very rare (<4-1%) | ||
| HP:0000725 | Psychotic episodes | |
| Excluded (0%) | ||
| HP:0002059 | Cerebral atrophy | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 33029936[PMID]_27571260[PMID]_31521395[PMID]_34482485[PMID]_27772754[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/542310
- This record as JSON: /data/d/542310.json