ORPHA:157855
HARP syndrome
inactive · moved to ORPHA:216866Classic pantothenate kinase-associated neurodegeneration
Synonyms: Hypoprebetalipoproteinemia-acanthocytosis-retinitis pigmentosa-pallidal degeneration syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Status
- inactive
- Flag
- Deprecated entity
This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Classic pantothenate kinase-associated neurodegeneration
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | HARP syndrome | Hypoprebetalipoproteinemia-acanthocytosis-retinitis pigmentosa-pallidal degeneration syndrome |
| fr | Syndrome HARP | Syndrome d'hypoprébêtalipoprotéinémie-acanthocytose-rétinite pigmentaire-dégénérescence du globus pallidus |
| de | HARP-Syndrom | Hypopräbetalipoproteinämie - Akanthozytose - Retinitis pigmentosa - Pallidumdegeneration |
| es | Síndrome de HARP | Hipoprebetalipoproteinemia-acantocitosis-retinosis pigmentaria-degeneración del pálido · Hipoprebetalipoproteinemia-acantocitosis-retinosis pigmentaria-degeneración palidal |
| it | Sindrome HARP | Ipoprebetalipoproteinemia - acantocitosi - retinite pigmentosa - degenerazione pallidale |
| nl | HARP-syndroom | Hypo-pre-bèta-lipoproteïnemie - acanthocytose - retinitis pigmentosa - pallidale aantasting |
| pt | Síndrome de HARP | |
| pl | Zespół HARP | Hipoprebetalipoproteinemia - akantocytoza - zwyrodnienie barwnikowe siatkówki - zwyrodnienie gałki bladej |
| cs | HARP syndrom | Syndrom zahrnující hypoprebetalipoproteinémii, akantocytózu, retinitis pigmentosa a palidální degeneraci |
| uk | HARP-синдром | Синдром гіпопребеталіпопротеїнемії - акантоцитозу - пігментного ретиніту - блідої дегенерації |
| zh | HARP综合征 | 低脂蛋白血症-棘红细胞增多症-色素性视网膜炎-苍白球变性综合征 |
| tr | HARP sendromu | Hipoprebetalipoproteinemi-akantositoz-retinitis pigmentosa-pallidal dejenerasyon sendromu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C1846582 | 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/157855
- This record as JSON: /data/d/157855.json