ORPHA:96
Ataxia with vitamin E deficiency
Synonyms: AVED · Ataxia with isolated vitamin E deficiency · Familial isolated vitamin E deficiency · Friedreich-like ataxia · Isolated vitamin E deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
A neurodegenerative disease belonging to the inherited cerebellar ataxias mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ataxia with vitamin E deficiency | AVED · Ataxia with isolated vitamin E deficiency · Familial isolated vitamin E deficiency · Friedreich-like ataxia · Isolated vitamin E deficiency |
| fr | Ataxie par déficit en vitamine E | AVED · Ataxie par déficit isolé en vitamine E · Ataxie type Friedreich-like · Déficit familial isolé en vitamine E |
| de | Ataxie mit Vitamin E-Mangel | AVED · Ataxie mit isoliertem Vitamin E-Mangel · Ataxie, Friedreich-ähnliche · Isolierter Vitamin E-Mangel · Vitamin E-Mangel, isolierter familärer |
| es | Ataxia con deficiencia de vitamina E | AVED · Ataxia con deficiencia aislada de vitamina E · Ataxia tipo Friedreich · Deficiencia aislada de vitamina E · Deficiencia aislada de vitamina E familiar |
| it | Atassia con deficit della vitamina E | AVED · Atassia Friedreich-simile · Atassia con deficit isolato della vitamina E · Deficit isolato della vitamina E · Deficit isolato familiare della vitamina E |
| nl | Ataxie met vitamine E-deficiëntie | AVED · Ataxie met geïsoleerde vitamine E-deficiëntie · Familiale geïsoleerde vitamine E-deficiëntie · Friedreich-achtige ataxie · Geïsoleerde vitamine E-deficiëntie |
| pt | Ataxia com deficiência de vitamina E | AVED · Ataxia Friedreich-like · Deficiência isolada de vitamina E · Deficiência isolada familiar de vitamina E |
| pl | Ataksja z niedoborem witaminy E | Ataksja podobna do ataksji Friedricha · Ataksja z izolowanym niedoborem witaminy E · AVED · Izolowany Niedobór witaminy E · Rodzinny izolowany Niedobór witaminy E |
| cs | Ataxie s deficitem vitaminu E | AVED · Ataxie s izolovaným deficitem vitaminu E · Familiární izolovaný deficit vitaminu E · Friedreich-like ataxie · Izolovaný deficit vitaminu E |
| uk | Атаксія з дефіцитом вітаміну Е | Атаксія з ізольованим дефіцитом вітаміну Е · AVED · Сімейний ізольований дефіцит вітаміну Е · Атаксія типу Фрідрейха · Ізольований дефіцит вітаміну Е |
| zh | 共济失调伴维生素E缺乏症 | 共济失调伴维生素E缺乏症 |
| tr | E vitamini eksikliğine bağlı ataksi | AVED · Friedreich-benzeri ataksi · İzole E vitamini eksikliği · Ailesel izole E vitamini eksikliği · İzole E vitamini eksikliği ile seyreden ataksi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 277460 | E | validated | |
| ICD-10 | G11.1 | NTBT | attributed | validated |
| ICD-11 | 8A03.10 | NTBT | index | validated |
| MONDO | 0010188 | E | validated | |
| MeSH | C535393 | E | validated | |
| UMLS | C1848533 | E | validated | |
| GARD | 8595 | E | validated | |
| MedDRA | 10088735 | 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 (5):
- ORPHA:98096Autosomal recessive metabolic cerebellar ataxia
rare genetic diseases; rare neurological diseases - ORPHA:309833Disorder of other vitamins and cofactors metabolism and transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:716405Rare disorder with progressive generalized retinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:207018Rare hereditary metabolic disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TTPA | Disease-causing germline mutation(s) in | Assessed | HGNC:12404 | ENSG00000137561 | 600415 | 8q12.3 | alpha tocopherol transfer protein |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.33 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
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
37 annotations · validated 2024-05-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0001284 | Areflexia | |
| HP:0001251 | Ataxia | |
| HP:0003487 | Babinski sign | |
| HP:0100513 | Low levels of vitamin E | |
| HP:0001324 | Muscle weakness | |
| HP:0009830 | Peripheral neuropathy | |
| Frequent (79-30%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0002312 | Clumsiness | |
| HP:0001260 | Dysarthria | |
| HP:0002075 | Dysdiadochokinesis | |
| HP:0001310 | Dysmetria | |
| HP:0001288 | Gait disturbance | |
| HP:0002599 | Head titubation | |
| HP:0010831 | Impaired proprioception | |
| HP:0000662 | Nyctalopia | |
| HP:0000639 | Nystagmus | |
| HP:0001761 | Pes cavus | |
| HP:0002650 | Scoliosis | |
| HP:0000763 | Sensory neuropathy | |
| Occasional (29-5%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0000649 | Abnormality of visual evoked potentials | |
| HP:0011675 | Arrhythmia | |
| HP:0002376 | Developmental regression | |
| HP:0000819 | Diabetes mellitus | |
| HP:0001332 | Dystonia | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0001276 | Hypertonia | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0001268 | Mental deterioration | |
| HP:0002403 | Positive Romberg sign | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0001337 | Tremor | |
| HP:0000012 | Urinary urgency | |
| HP:0000505 | Visual impairment | |
| Very rare (<4-1%) | ||
| HP:0000580 | Pigmentary retinopathy | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 20301419[PMID]_20464573[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96
- This record as JSON: /data/d/96.json