Ataxia-telangiectasia variant
Synonyms: v-AT
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Status
- active
A rare, genetic, persistent combined dystonia characterized by clinical signs similar to ataxia-telangiectasia but with a later (usually adulthood) onset and slower progression. Patients typically present extrapyramidal signs, such as resting tremor, choreathetosis, and dystonia, as the initial symptoms and later often develop mild cerebellar ataxia (with gait usually preserved). Telangiectasia and immunodeficiency may be absent but secondary features of ataxia-telangiectasia, such as risk of malignancy, dysarthria and peripheral neuropathy, are frequently present.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ataxia-telangiectasia variant | v-AT |
| fr | Variant de l'ataxie-télangiectasie | = en |
| de | Ataxia-Teleangiectasia Variante | = en |
| es | Variante de ataxia-telangiectasia | = en |
| it | Variante dell'atassia-telangectasia | = en |
| nl | Variant van ataxie-teleangiëctasie | = en |
| pt | Ataxia - telangiectasia, variante de | |
| pl | Wariant ataksja-telangiektazja | = en |
| cs | Variantní ataxia-telangiectasia | v-AT · Ataxia teleangiectasia - varianta |
| uk | Варіант атаксії-телеангіектазії | = en |
| zh | 共济失调-毛细血管扩张变异 | = en |
| tr | Ataksi-telenjiektazi varyantı | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 208900 | NTBT | validated | |
| ICD-10 | G11.3 | NTBT | attributed | validated |
| MONDO | 0018266 | E | validated | |
| MeSH | C566865 | E | validated | |
| UMLS | C1876175 | 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 (1):
- ORPHA:391711Persistent combined dystonia
rare genetic diseases; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:293838Fatal infantile encephalopathy-pulmonary hypertension syndrome moved to · inactive
- ORPHA:370114Combined cervical dystonia moved to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATM | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:795 | ENSG00000149311 | 607585 | 11q22.3 | ATM serine/threonine kinase | 23946315[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/370109
- This record as JSON: /data/d/370109.json