ORPHA:320346
Pure or complex autosomal recessive spastic paraplegia
Synonyms: Pure or complicated autosomal recessive 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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pure or complex autosomal recessive spastic paraplegia | Pure or complicated autosomal recessive spastic paraplegia |
| fr | Paraplégie spastique autosomique récessive pure ou complexe | |
| de | Spastische Paraplegie, reine oder komplexe, autosomal-rezessive | Spastische Paraplegie, reine oder komplizierte, autosomal-rezessive |
| es | Paraplejía espástica autosómica recesiva pura o compleja | |
| it | Paraplegia spastica autosomica recessiva complessa o pura | Paraplegia spastica autosomica recessiva complicata o pura |
| nl | Zuivere of complexe autosomaal recessieve spastische paraplegie | Zuivere of gecompliceerde autosomaal recessieve spastische paraplegie |
| pt | Paraplegia espástica autossómica recessiva pura ou complexa | |
| pl | Czysta lub złożona autosomalna recesywna paraplegia spastyczna | Czysta lub powikłana autosomalna recesywna paraplegia spastyczna |
| cs | Čistá nebo komplexní autozomálně recesivní spastická paraplegie | Čistá nebo komplikovaná autozomálně recesivní spastická paraplegie |
| uk | Чиста або складна аутосомно-рецесивна спастична параплегія | Чиста або ускладнена аутосомно-рецесивна спастична параплегія |
| zh | 单纯性或复杂性常染色体显性遗传痉挛性截瘫 | = en |
| tr | Saf veya karmaşık otozomal resesif spastik parapleji | Saf veya karmaşık otozomal çekinik spastik parapleji |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 17915 | E | validated | |
| UMLS | C5679887 | 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:320335Pure or complex hereditary spastic paraplegia
rare genetic diseases; rare neurological diseases
Children (12):
- ORPHA:2822Autosomal recessive spastic paraplegia type 11
- ORPHA:100995Autosomal recessive spastic paraplegia type 14
- ORPHA:101007Autosomal recessive spastic paraplegia type 27
- ORPHA:320396Autosomal recessive spastic paraplegia type 45
- ORPHA:306511Autosomal recessive spastic paraplegia type 48
- ORPHA:320411Autosomal recessive spastic paraplegia type 56
- ORPHA:100986Autosomal recessive spastic paraplegia type 5A
- ORPHA:466722Autosomal recessive spastic paraplegia type 77
- ORPHA:631088Autosomal recessive spastic paraplegia type 87
- ORPHA:101010Autosomal spastic paraplegia type 30
- ORPHA:2429Macrocephaly-spastic paraplegia-dysmorphism syndrome
- ORPHA:99013Spastic paraplegia type 7
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/320346
- This record as JSON: /data/d/320346.json