Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
Synonyms: Spastic paraplegia type 79
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare, genetic, neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome | Spastic paraplegia type 79 |
| fr | Syndrome de neurodégénérescence progressive de l'enfant-cécité-ataxie-spasticité | Paraplégie spastique type 79 |
| de | Früh beginnende progressive Neurodegeneration-Blindheit-Ataxie-Spastik-Syndrom | Spastische Paraplegie Typ 79 |
| es | Síndrome de neurodegeneración progresiva-ceguera-ataxia-espasticidad de inicio precoz | Paraplejía espástica tipo 79 |
| it | Sindrome neurodegenerazione progressiva ad esordio precoce-cecità-atassia-spasticità | |
| nl | Vroeg optredende progressieve neurodegeneratie - blindheid - ataxie - spasticiteit-syndroom | Spastische paraplegie type 79 |
| pt | Síndrome de neurodegeneração progressiva de início precoce-cegueira-ataxia-espasticidade | Paraplegia espástica autossómica recessiva tipo 79 |
| pl | Postępująca neurodegeneracja o wczesnym początku z całkowitą utratą wzroku, ataksją i spastycznością | Zespół postępującej neurodegeneracji o wczesnym początku, ślepoty, ataksji i spastyczności |
| cs | Syndrom zahrnující progresivní neurodegeneraci s časným nástupem, slepotu, ataxii a spasticitu | = en |
| uk | Синдром ранньої прогресуючої нейродегенерації-сліпоти-атаксії-спастичності | Аутосомно-рецесивна спастична параплегія типу 79 |
| zh | 早期进行性神经退行性变-失明-共济失调-痉挛综合征 | |
| tr | Erken başlangıçlı ilerleyici nörodejenerasyon-körlük-ataksi-spastisite sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615491 | BTNT | validated | |
| OMIM | 620221 | BTNT | validated | |
| ICD-10 | G31.8 | NTBT | attributed | validated |
| MONDO | 0014209 | E | validated | |
| UMLS | C4749947 | 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:182070Rare neurodegenerative disease
rare neurological diseases - ORPHA:441434Syndromic hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| UCHL1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12513 | ENSG00000154277 | 191342 | 4p13 | ubiquitin C-terminal hydrolase L1 | 23359680[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 23359680[PMID]_28007905[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28007905[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/352654
- This record as JSON: /data/d/352654.json