ORPHA:1178
Ataxia-tapetoretinal degeneration syndrome
historical
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Adolescent, Childhood, Infancy
- Status
- historical
A rare hereditary ataxia characterized by simultaneous onset and development of cerebellar ataxia and chorioretinal degeneration (including macular degeneration, advancing choroidal sclerosis, punctata albescens, and retinitis pigmentosa). There have been no further descriptions in the literature since 1963.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ataxia-tapetoretinal degeneration syndrome | |
| fr | Syndrome d'ataxie-dégénérescence tapéto-rétinienne | |
| de | Ataxie mit tapetoretinaler Degeneration | |
| es | Síndrome de ataxia-degeneración tapetorretiniana | |
| it | Atassia e degenerazione tapetoretinica | |
| nl | Ataxie - tapetoretinale degeneratie-syndroom | |
| pt | Síndrome de ataxia-degeneração tapetoretiniana | |
| pl | Ataksja - degeneracja błony odblaskowej i siatkówki | |
| cs | Syndrom zahrnující ataxii a tapetoretinální degeneraci | |
| uk | Синдром атаксії-тапеторетинальної дегенерації | |
| zh | 共济失调-视网膜色素层变性综合征 | |
| tr | Ataksi-tapetoretinal dejenerasyon sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 272600 | E | validated | |
| ICD-10 | G11.1 | NTBT | attributed | validated |
| MONDO | 0010095 | E | validated | |
| UMLS | C5190865 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:183518Hereditary ataxia
rare genetic diseases; rare neurological diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| 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.
6
HPO phenotypes
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Occasional (29-5%) | ||
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0001251 | Ataxia | |
| HP:0100543 | Cognitive impairment | |
| HP:0001288 | Gait disturbance | |
| HP:0001252 | Hypotonia | |
| HP:0000639 | Nystagmus | |
| HP:0000580 | Pigmentary retinopathy | |
| HP:0000510 | Rod-cone dystrophy | |
| HP:0000505 | Visual impairment | |
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1178
- This record as JSON: /data/d/1178.json