ORPHA:64753
Spinocerebellar ataxia with axonal neuropathy type 2
Synonyms: AOA2 · Ataxia-oculomotor apraxia type 2 · SCAN 2 · SCAR1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia with axonal neuropathy type 2 | AOA2 · Ataxia-oculomotor apraxia type 2 · SCAN 2 · SCAR1 |
| fr | Syndrome d'ataxie spinocérébelleuse-neuropathie axonale type 2 | AOA2 · SCAR1 · Syndrome d'ataxie-apraxie oculo-motrice type 2 |
| de | Spinozerebelläre Ataxie mit axonaler Neuropathie Typ 2 | AOA2 · Ataxie mit okulomotorischer Apraxie Typ 2 · SCAN 2 · SCAR1 |
| es | Ataxia espinocerebelosa con neuropatía axonal tipo 2 | AOA2 · Ataxia-apraxia oculomotora tipo 2 · SCAN 2 · SCAR1 |
| it | Atassia spinocerebellare associata alla neuropatia assonale tipo 2 | Atassia - aprassia oculomotoria, tipo 2 (AOA2) · SCAN 2 · SCAR1 |
| nl | Spinocerebellaire ataxie met axonale neuropathie type 2 | AOA2 · Ataxie - oculomotorische apraxie type 2 · SCAN 2 · SCAR1 |
| pt | Ataxia espinocerebelosa com neuropatia axonal tipo 2 | AOA2 · Ataxia-apraxia oculo-motora tipo 2 · SCAN 2 |
| pl | Ataksja rdzeniowo-móżdżkowa z neuropatią aksonalną typu 2 | AOA2 · SCAR1 · SCAN 2 · Ataksja - apraksja okulomotoryczna typu 2 |
| cs | Spinocerebelární ataxie s axonální neuropatií, typ 2 | AOA2 · Ataxie a okulomotorická apraxie, typ 2 · SCAN 2 · SCAR1 |
| uk | Спіноцеребеллярна атаксія з аксональною нейропатією, тип 2 | AOA2 · Атаксія-окуломоторна апраксія типу 2 · SCAN 2 · SCAR1 1 |
| zh | 脊髓小脑共济失调伴轴突性神经病2型 | 共济失调-动眼运用不能2型 |
| tr | Aksonal nöropati tip 2 ile seyreden spinoserebellar ataksi | AOA2 · SCAR1 · TARAMA 2 · Ataksi-okülomotor apraksi tip 2 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606002 | BTNT | validated | |
| OMIM | 615217 | BTNT | validated | |
| ICD-10 | G60.2 | NTBT | attributed | validated |
| ICD-11 | 9C82.4 | NTBT | index | validated |
| MONDO | 0018996 | E | validated | |
| MONDO | 18996 | E | validated | |
| UMLS | C1853761 | E | validated | |
| GARD | 12860 | 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 (4):
- ORPHA:98097Autosomal recessive cerebellar ataxia due to a DNA repair defect
rare genetic diseases; rare neurological diseases - ORPHA:98497Genetic peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:519341Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature
rare ophthalmic disorders - ORPHA:522506Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature
rare genetic diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SETX | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:445 | ENSG00000107290 | 608465 | 9q34.13 | senataxin | 20301333[PMID]_14770181[PMID] |
| PIK3R5 | Disease-causing germline mutation(s) in | Assessed | HGNC:30035 | ENSG00000141506 | 611317 | 17p13.1 | phosphoinositide-3-kinase regulatory subunit 5 | 22065524[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.11 / 100 000 | France | Value and class | Validated | 19440741[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.
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HPO phenotypes
22 annotations · validated 2018-03-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001284 | Areflexia | |
| HP:0001251 | Ataxia | |
| HP:0006855 | Cerebellar vermis atrophy | |
| HP:0007141 | Sensorimotor neuropathy | |
| Frequent (79-30%) | ||
| HP:0006254 | Elevated alpha-fetoprotein | |
| HP:0002141 | Gait imbalance | |
| HP:0000640 | Gaze-evoked nystagmus | |
| HP:0000657 | Oculomotor apraxia | |
| HP:0001152 | Saccadic smooth pursuit | |
| HP:0003474 | Somatic sensory dysfunction | |
| Occasional (29-5%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0003487 | Babinski sign | |
| HP:0001266 | Choreoathetosis | |
| HP:0002015 | Dysphagia | |
| HP:0001332 | Dystonia | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0002346 | Head tremor | |
| HP:0003124 | Hypercholesterolemia | |
| HP:0003073 | Hypoalbuminemia | |
| HP:0002174 | Postural tremor | |
| HP:0000486 | Strabismus | |
| HP:0002839 | Urinary bladder sphincter dysfunction | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 14770181[PMID]_19696032[PMID]_14736755[PMID]_18350359[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/64753
- This record as JSON: /data/d/64753.json