ORPHA:100982
Autosomal recessive pure spastic paraplegia
Synonyms: Autosomal recessive pure HSP · Autosomal recessive pure SPG · Autosomal recessive uncomplicated HSP · Autosomal recessive uncomplicated SPG · Autosomal recessive uncomplicated spastic paraplegia
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal recessive
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive pure spastic paraplegia | Autosomal recessive pure HSP · Autosomal recessive pure SPG · Autosomal recessive uncomplicated HSP · Autosomal recessive uncomplicated SPG · Autosomal recessive uncomplicated spastic paraplegia |
| fr | Paraplégie spastique pure autosomique récessive | HSP pure autosomique récessive · SPG pure autosomique récessive |
| de | Hereditäre spastische Paraplegie, autosomal-rezessive reine | |
| es | Paraplejía espástica hereditaria autosómica recesiva pura | |
| it | Paraplegia spastica ereditaria pura autosomica recessiva | |
| nl | Autosomaal recessieve zuivere spastische paraplegie | |
| pt | Paraplegia espástica autossómica recessiva pura | |
| pl | Autosomalna recesywna czysta paraplegia spastyczna | Autosomalna recesywna czysta HSP · Autosomalna recesywna czysta SPG · Autosomalna recesywna niepowikłana HSP · Autosomalna recesywna niepowikłana paraplegia spastyczna · Autosomalna recesywna niepowikłana SPG |
| cs | Autozomálně recesivní čistě spastická paraplegie | Autozomálně recesivní čistá HSP · Autozomálně recesivní čistá SPG · Autozomálně recesivní nekomplikovaná HSP · Autozomálně recesivní nekomplikovaná SPG · Autozomálně recesivní nekomplikovaná spastická paraplegie |
| uk | Аутосомно-рецесивна чиста спастична параплегія | Аутосомно-рецесивний чистий HSP · Аутосомно-рецесивний чистий SPG · Аутосомно-рецесивний неускладнений HSP · Аутосомно-рецесивна неускладнена спастична параплегія · Аутосомно-рецесивний неускладнений SPG |
| zh | 常染色体隐性遗传纯痉挛性截瘫 | 常染色体隐性遗传单纯型SPG |
| tr | Otozomal resesif saf spastik parapleji | Otozomal çekinik saf HSP · Otozomal çekinik saf SPG · Otozomal çekinik komplike olmayan HSP · Otozomal çekinik komplike olmayan SPG · Otozomal çekinik komplike olmayan spastik parapleji |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15090 | E | validated | |
| UMLS | C5680376 | E | validated | |
| GARD | 19773 | 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 (1):
- ORPHA:102012Pure hereditary spastic paraplegia
rare genetic diseases; rare neurological diseases
Children (7):
- ORPHA:101004Autosomal recessive spastic paraplegia type 24
- ORPHA:101008Autosomal recessive spastic paraplegia type 28
- ORPHA:401785Autosomal recessive spastic paraplegia type 62
- ORPHA:401840Autosomal recessive spastic paraplegia type 71
- ORPHA:631076Autosomal recessive spastic paraplegia type 83
- ORPHA:401849Autosomal spastic paraplegia type 72
- ORPHA:689234RNASEH2B-related hereditary spastic paraplegia
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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/100982
- This record as JSON: /data/d/100982.json