ORPHA:100981
Autosomal recessive complex spastic paraplegia
Synonyms: Autosomal recessive complex HSP · Autosomal recessive complex SPG · Autosomal recessive complicated HSP · Autosomal recessive complicated SPG · Autosomal recessive complicated 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 | Autosomal recessive complex spastic paraplegia | Autosomal recessive complex HSP · Autosomal recessive complex SPG · Autosomal recessive complicated HSP · Autosomal recessive complicated SPG · Autosomal recessive complicated spastic paraplegia |
| fr | Paraplégie spastique complexe autosomique récessive | HSP complexe autosomique récessive · SPG complexe autosomique récessive |
| de | Hereditäre spastische Paraplegie, autosomal-rezessive komplexe | |
| es | Paraplejía espástica hereditaria autosómica recesiva complicada | |
| it | Paraplegia spastica ereditaria complessa autosomica recessiva | |
| nl | Autosomaal recessieve complexe spastische paraplegie | |
| pt | Paraplegia espástica complexa autossómica recessiva | |
| pl | Autosomalna recesywna złożona paraplegia spastyczna | Autosomalna recesywna powikłana HSP · Autosomalna recesywna powikłana paraplegia spastyczna · Autosomalna recesywna powikłana SPG · Autosomalna recesywna złożona HSP · Autosomalna recesywna złożona SPG |
| cs | Autozomálně recesivní komplexní spastická paraplegie | Autozomálně recesivní komplexní HSP · Autozomálně recesivní komplexní SPG · Autozomálně recesivní komplikovaná HSP · Autozomálně recesivní komplikovaná SPG · Autozomálně recesivní komplikovaná spastická paraplegie |
| uk | Аутосомно-рецесивна складна спастична параплегія | Аутосомно-рецесивний комплекс HSP · Аутосомно-рецесивний комплекс SPG · Аутосомно-рецесивний ускладнений HSP · Аутосомно-рецесивна ускладнена спастична параплегія · Аутосомно-рецесивний ускладнений SPG |
| zh | 常染色体隐性遗传复杂痉挛性截瘫 | 常染色体隐性遗传复杂型SPG |
| tr | Otozomal resesif kompleks spastik parapleji | Otozomal çekinik kompleks HSP · Otozomal çekinik kompleks SPG · Otozomal çekinik komplike HSP · Otozomal çekinik komplike SPG · Otozomal çekinik komplike spastik parapleji |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15089 | E | validated | |
| UMLS | C5680377 | E | validated | |
| GARD | 19772 | 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:102013Complex hereditary spastic paraplegia
rare genetic diseases; rare neurological diseases
Children (42):
- ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
- ORPHA:101000Autosomal recessive spastic paraplegia type 20
- ORPHA:101001Autosomal recessive spastic paraplegia type 21
- ORPHA:101003Autosomal recessive spastic paraplegia type 23
- ORPHA:101005Autosomal recessive spastic paraplegia type 25
- ORPHA:101006Autosomal recessive spastic paraplegia type 26
- ORPHA:171622Autosomal recessive spastic paraplegia type 32
- ORPHA:171629Autosomal recessive spastic paraplegia type 35
- ORPHA:139480Autosomal recessive spastic paraplegia type 39
- ORPHA:320370Autosomal recessive spastic paraplegia type 43
- ORPHA:320401Autosomal recessive spastic paraplegia type 44
- ORPHA:320391Autosomal recessive spastic paraplegia type 46
- ORPHA:319199Autosomal recessive spastic paraplegia type 53
- ORPHA:320380Autosomal recessive spastic paraplegia type 54
- ORPHA:401795Autosomal recessive spastic paraplegia type 59
- ORPHA:401800Autosomal recessive spastic paraplegia type 60
- ORPHA:401780Autosomal recessive spastic paraplegia type 61
- ORPHA:401805Autosomal recessive spastic paraplegia type 63
- ORPHA:401810Autosomal recessive spastic paraplegia type 64
- ORPHA:401815Autosomal recessive spastic paraplegia type 66
- ORPHA:401820Autosomal recessive spastic paraplegia type 67
- ORPHA:401830Autosomal recessive spastic paraplegia type 69
- ORPHA:401835Autosomal recessive spastic paraplegia type 70
- ORPHA:459056Autosomal recessive spastic paraplegia type 75
- ORPHA:488594Autosomal recessive spastic paraplegia type 76
- ORPHA:513436Autosomal recessive spastic paraplegia type 78
- ORPHA:631073Autosomal recessive spastic paraplegia type 82
- ORPHA:631079Autosomal recessive spastic paraplegia type 84
- ORPHA:631082Autosomal recessive spastic paraplegia type 85
- ORPHA:631085Autosomal recessive spastic paraplegia type 86
- ORPHA:447760Autosomal recessive spastic paraplegia type 9B
- ORPHA:397946Autosomal spastic paraplegia type 58
- ORPHA:329308Fatty acid hydroxylase-associated neurodegeneration
- ORPHA:320385Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
- ORPHA:100996Kjellin syndrome
- ORPHA:496689Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
- ORPHA:139578Mutilating hereditary sensory neuropathy with spastic paraplegia
- ORPHA:477673Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
- ORPHA:280763Severe intellectual disability and progressive spastic paraplegia
- ORPHA:2818Spastic paraplegia-glaucoma-intellectual disability syndrome
- ORPHA:431320Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder
- ORPHA:464282Spastic paraplegia-severe developmental delay-epilepsy syndrome
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/100981
- This record as JSON: /data/d/100981.json