ORPHA:314632
CLN12 disease
Synonyms: ATP13A2-related juvenile neuronal ceroid lipofuscinosis · Juvenile parkinsonism-neuronal ceroid lipofuscinosis · NCL12 · Neuronal ceroid lipofuscinosis type 12
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare neuronal ceroid lipofuscinosis characterized by juvenile-onset (11-13 years) ataxia, unsteady gait, severe myoclonus and mood disturbance, progressing with clear extrapyramidal symptoms (including akinesia, rigidity and dysarthric speech) in 5 years following the diagnosis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CLN12 disease | ATP13A2-related juvenile neuronal ceroid lipofuscinosis · Juvenile parkinsonism-neuronal ceroid lipofuscinosis · NCL12 · Neuronal ceroid lipofuscinosis type 12 |
| fr | Maladie CLN12 | Céroïde lipofuscinose neuronale de type 12 · Céroïde-lipofuscinose neuronale juvénile associée à ATP13A2 · NCL12 · Parkinsonisme juvénile-céroïde-lipofuscinose neuronale |
| de | CLN12-Krankheit | ATP13A2-assoziierte juvenile neuronale Ceroid-Lipofuszinose · Ceroid-Lipofuszinose, neuronale, Typ 12 · Juveniler Parkinsonismus-Neuronale Ceroid-Lipofuszinose · NCL12 |
| es | Enfermedad CLN12 | Lipofuscinosis ceroidea neuronal juvenil asociada a ATP13A2 · Lipofuscinosis ceroidea neuronal tipo 12 · Lipofuscinosis ceroidea neuronal-parkinsonismo juvenil · NCL12 |
| it | Malattia CLN12 | Ceroidolipofuscinosi neuronale-Parkinsonismo giovanile · Ceroidolipofuscinosi neuronale tipo 12 · Ceroidolipofuscinosi neuronale giovanile correlata ad ATP13A2 · Ceroidolipofuscinosi neuronale correlata a ATP13A2 · Parkinsonismo giovanile-ceroidolipofuscinosi neuronale |
| nl | CLN12-ziekte | ATP13A2-gerelateerde juveniele neuronale ceroïdlipofuscinose · Juveniel parkinsonisme - neuronale ceroïdlipofuscinose · NCL12 · Neuronale ceroïdlipofuscinose type 12 |
| pt | Doença CLN12 | Lipofuscinose ceróide neuronal juvenil ATP13A2-relacionada · Lipofuscinose ceróide neuronal tipo 12 · NCL12 · Parkinsonismo juvenil-lipofuscinose ceroide neuronal |
| pl | Choroba CLN12 | = en |
| cs | Parkinsonismus způsobený deficitem ATP13A2 | Nemoc CLN12 · Neuronální ceroidní lipofuscinóza, typ 12 |
| uk | Хвороба CLN12 | Ювенільний нейрональний цероїдний ліпофусциноз, повязаний з ATP13A2 · Ювенільний паркінсонізм - нейрональний цероїдний ліпофусциноз · Нейрональний цероїдний ліпофусциноз типу 12 |
| zh | ATP13A2基因相关性幼年神经元蜡样脂褐质贮积症 | 幼年帕金森病-神经元蜡样脂褐质贮积症 |
| tr | ATP13A2 -ilişkili jüvenil nöronal seroid lipofuksinoz | CLN12 hastalığı · Jüvenil parkinsonizm-nöronal seroid lipofuksinoz |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606693 | NTBT | validated | |
| ICD-10 | E75.4 | NTBT | attributed | validated |
| ICD-11 | 5C56.1 | NTBT | attributed | validated |
| MONDO | 0017809 | E | validated | |
| UMLS | C5230619 | 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 (3):
- ORPHA:514980ATP13A2-related parkinsonism
rare genetic diseases; rare neurological diseases - ORPHA:216Neuronal ceroid lipofuscinosis
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders - ORPHA:98261Progressive myoclonic epilepsy
rare genetic diseases; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:3336TomÚ-Brunet-Fardeau syndrome moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATP13A2 | Disease-causing germline mutation(s) in | Assessed | HGNC:30213 | ENSG00000159363 | 610513 | 1p36.13 | ATPase cation transporting 13A2 | 22388936[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 | 22388936[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
18 annotations · validated 2018-06-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002063 | Rigidity | |
| Frequent (79-30%) | ||
| HP:0003487 | Babinski sign | |
| HP:0002067 | Bradykinesia | |
| HP:0100543 | Cognitive impairment | |
| HP:0002506 | Diffuse cerebral atrophy | |
| HP:0001332 | Dystonia | |
| HP:0001336 | Myoclonus | |
| HP:0002548 | Parkinsonism with favorable response to dopaminergic medication | |
| HP:0002172 | Postural instability | |
| HP:0001337 | Tremor | |
| HP:0025331 | Upgaze palsy | |
| Occasional (29-5%) | ||
| HP:0002339 | Abnormal caudate nucleus morphology | |
| HP:0001260 | Dysarthria | |
| HP:0012378 | Fatigue | |
| HP:0001288 | Gait disturbance | |
| HP:0001324 | Muscle weakness | |
| Very rare (<4-1%) | ||
| HP:0000716 | Depression | |
| HP:0002174 | Postural tremor | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 25197640[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/314632
- This record as JSON: /data/d/314632.json