ORPHA:728432
PLA2G6-related neurodegeneration, juvenile-onset
Synonyms: PLA2G6-associated neurodegeneration, juvenile-onset · Juvenile PLAN · Atypical neuroaxonal dystrophy · ANAD · Juvenile phospholipase A2-associated neurodegeneration
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PLA2G6-related neurodegeneration, juvenile-onset | PLA2G6-associated neurodegeneration, juvenile-onset · Juvenile PLAN · Atypical neuroaxonal dystrophy · ANAD · Juvenile phospholipase A2-associated neurodegeneration |
| fr | Neurodégénérescence associée à PLA2G6 à début juvénile | Dystrophie neuroaxonale atypique · DNAI atypique · Neurodégénérescence associée à la phospholipase A2 juvénile |
| de | PLA2G6-assoziierte Neurodegeneration, juvenile Form | ANAD · Juvenile PLAN · Atypische neuroaxonale Dystrophie · Juvenil beginnende PLA2G6-assoziierte Neurodegeneration · Juvenile Phospholipase-A2-assoziierte Neurodegeneration |
| es | Neurodegeneración asociada al gen PLA2G6, de inicio juvenil | ANAD · Distrofia neuroaxonal atípica · Neurodegeneración juvenil asociada a la fosfolipasa A2 · PLAN juvenil |
| it | Neurodegenerazione correlata a PLA2G6 ad esordio giovanile | ANAD · PLAN giovanile · Distrofia neuroassonale atipica · Neurodegenerazione associata a PLA2G6 ad esordio giovanile · Neurodegenerazione correlata alla fosfolipasi A2, forma giovanile |
| nl | PLA2G6-gerelateerde neurodegeneratie, juveniel begin | ANAD · Juveniele PLAN · Atypische neuroaxonale dystrofie · PLA2G6-geassocieerde neurodegeneratie, juveniel begin · Juveniele fosfolipase A2-geassocieerde neurodegeneratie |
| pt | Juvenile-onset PLA2G6-associated neurodegeneration | |
| pl | PLA2G6-related neurodegeneration, juvenile-onset | = en |
| cs | PLA2G6-related neurodegeneration, juvenile-onset | = en |
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Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:316240Autosomal recessive spastic ataxia
rare genetic diseases; rare neurological diseases - ORPHA:329303PLA2G6-related neurodegeneration
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 90 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | Unknown | — | 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/728432
- This record as JSON: /data/d/728432.json