Autosomal dominant complex spastic paraplegia
Synonyms: Autosomal dominant complex HSP · Autosomal dominant complex SPG · Autosomal dominant complicated HSP · Autosomal dominant complicated SPG · Autosomal dominant complicated spastic paraplegia
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant
- 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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant complex spastic paraplegia | Autosomal dominant complex HSP · Autosomal dominant complex SPG · Autosomal dominant complicated HSP · Autosomal dominant complicated SPG · Autosomal dominant complicated spastic paraplegia |
| fr | Paraplégie spastique complexe autosomique dominante | HSP complexe autosomique dominante · SPG complexe autosomique dominante |
| de | Hereditäre spastische Paraplegie, autosomal-dominante komplexe | |
| es | Paraplejía espástica hereditaria autosómica dominante compleja | |
| it | Paraplegia spastica ereditaria, autosomica dominante complessa | |
| nl | Autosomaal dominante complexe spastische paraplegie | |
| pt | Paraplegia espástica complexa autossómica dominante | |
| pl | Autosomalna dominująca złożona paraplegia spastyczna | Autosomalna dominująca powikłana HSP · Autosomalna dominująca powikłana paraplegia spastyczna · Autosomalna dominująca powikłana SPG · Autosomalna dominująca złożona HSP · Autosomalna dominująca złożona SPG |
| cs | Autozomálně dominantní komplexní spastická paraplegie | Autozomálně dominantní komplexní HSP · Autozomálně dominantní komplexní SPG · Autozomálně dominantní komplikovaná HSP · Autozomálně dominantní komplikovaná SPG · Autozomálně dominantní komplikovaná spastická paraplegie |
| uk | Аутосомно-домінантна складна спастична параплегія | Аутосомно-домінантний комплекс HSP · Аутосомно-домінантний комплекс SPG · Аутосомно-домінантний ускладнений HSP · Аутосомно-домінантна ускладнена спастична параплегія · Аутосомно-домінантний ускладнений SPG |
| zh | 常染色体显性遗传遗传复杂痉挛性截瘫 | 常染色体显性遗传复杂型SPG |
| tr | Otozomal dominant kompleks spastik parapleji | Otozomal baskın kompleks HSP · Otozomal baskın kompleks KMT · Otozomal baskın komplike HSP · Otozomal baskın komplike SPG · Otozomal baskın komplike spastik parapleji |
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0015087 | E | validated | |
| MONDO | 15087 | E | validated | |
| UMLS | C5680379 | E | validated | |
| GARD | 19770 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:102013Complex hereditary spastic paraplegia
rare genetic diseases; rare neurological diseases
Children (12):
- ORPHA:100998Autosomal dominant spastic paraplegia type 17
- ORPHA:101009Autosomal dominant spastic paraplegia type 29
- ORPHA:320365Autosomal dominant spastic paraplegia type 36
- ORPHA:171617Autosomal dominant spastic paraplegia type 38
- ORPHA:447753Autosomal dominant spastic paraplegia type 9A
- ORPHA:615938Spastic paraparesis-cataracts-speech delay syndrome
- ORPHA:329475Spastic paraplegia-Paget disease of bone syndrome
- ORPHA:2819Spastic paraplegia-facial-cutaneous lesions syndrome
- ORPHA:521390Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
- ORPHA:2820Spastic paraplegia-nephritis-deafness syndrome
- ORPHA:2821Spastic paraplegia-neuropathy-poikiloderma syndrome
- ORPHA:2826Spastic paraplegia-precocious puberty syndrome
Codes that Orphanet moved or referred to this one:
- ORPHA:100990OBSOLETE: Autosomal dominant spastic paraplegia type 9 referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Norway | Value and class | Validated | 19339254[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Not yet 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/100979
- This record as JSON: /data/d/100979.json