Childhood-onset basal ganglia degeneration syndrome
Synonyms: Lenk-Ploski syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare genetic neurodegenerative disease characterized by sudden onset of progressive motor deterioration and regression of developmental milestones. Manifestations include dystonia and muscle spasms, dysphagia, dysarthria, and eventually loss of speech and ambulation. Brain MRI shows predominantly striatal abnormalities. The disease is potentially associated with a fatal outcome.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Childhood-onset basal ganglia degeneration syndrome | Lenk-Ploski syndrome |
| fr | Syndrome de dégénerescence des ganglions de la base de l'enfant | Syndrome de Lenk-Ploski |
| de | Basalgangliendegeneration-Syndrom mit Beginn im Kindesalter | Lenk-Ploski-Syndrom |
| es | Síndrome de degeneración de los ganglios basales de inicio en la infancia | Síndrome de Lenk-Ploski |
| it | Sindrome da degenerazione dei gangli basali ad esordio infantile | |
| nl | Basale ganglia degeneratie syndroom met aanvang in de kindertijd | Syndroom van Lenk-Ploski |
| pt | Síndrome de degeneração dos gânglios basais de início na infância | |
| pl | Zespół deneneracji jąder podstawy mózgu o początku w dzieciństwie | Zespół Lenkego i Ploskiego |
| cs | Syndrom degenerace bazálních ganglií s nástupem v dětském věku | Lenk-Ploski syndrome · Lenk-Ploskiho syndrom |
| uk | Синдром дегенерації базальних гангліїв, що починається в дитинстві | Синдром Ленка-Плоскі |
| zh | 儿童发病的基底节退行性变综合征 | Lenk-Ploski综合征 |
| tr | Çocukluk çağı başlangıçlı bazal ganglia dejenerasyon sendromu | Lenk-Ploski sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617054 | E | validated | |
| ICD-10 | G31.8 | NTBT | attributed | validated |
| MONDO | 0014889 | E | validated | |
| UMLS | C4310743 | 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 (3):
- ORPHA:183500Genetic neurodegenerative disease
rare genetic diseases - ORPHA:370106Rare disorder with dystonia and other neurologic or systemic manifestation
rare genetic diseases; rare neurological diseases - ORPHA:182070Rare neurodegenerative disease
rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| VAC14 | Disease-causing germline mutation(s) in | Assessed | HGNC:25507 | ENSG00000103043 | 604632 | 16q22.1-q22.2 | VAC14 component of PIKFYVE complex | 27292112[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 27292112[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27292112[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/497906
- This record as JSON: /data/d/497906.json