ORPHA:3390
Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome
inactive · moved to ORPHA:480Kearns-Sayre syndrome
- Type
- Disease
- Group
- Disorder
- Status
- inactive
- Flag
- Deprecated entity
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Kearns-Sayre syndrome
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome | |
| fr | Syndrome de tubulopathie proximale-diabète sucré-ataxie cérébelleuse | |
| de | Proximale Tubulopathie - Diabetes mellitus - zerebelläre Ataxie | |
| es | Síndrome de tubulopatía proximal-diabetes mellitus-ataxia cerebelosa | |
| it | Tubulopatia prossimale - diabete mellito - atassia cerebellare | |
| nl | Proximale tubulopathie - diabetes mellitus - cerebellaire ataxie-syndroom | |
| pt | Síndrome de tubulopatia proximal-diabetes mellitus-ataxia cerebelosa | |
| pl | Tubulopatia proksymalna - cukrzyca - ataksja móżdźkowa | |
| cs | Syndrom zahrnující proximální tubulopatii, diabetes mellitus a cerebelární ataxii | |
| uk | Синдром проксимальної тубулопатії - цукрового діабету - мозочкової атаксії | |
| zh | 近端肾小管病-糖尿病-小脑共济失调综合征 | |
| tr | Proksimal tubulopati-diabetes mellitus-serebellar ataksi sendromu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 560000 | 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
Not placed in any Orphanet classification in this release.
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3390
- This record as JSON: /data/d/3390.json