Autosomal recessive spastic paraplegia type 59
Synonyms: SPG59
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare, complex hereditary spastic paraplegia characterized by an early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive spastic paraplegia type 59 | SPG59 |
| fr | Paraplégie spastique autosomique récessive type 59 | = en |
| de | Spastische Paraplegie, autosomal-rezessive, Typ 59 | = en |
| es | Paraplejía espástica autosómica recesiva tipo 59 | = en |
| it | Paraplegia spastica autosomica recessiva tipo 59 | = en |
| nl | Autosomaal recessieve spastische paraplegie type 59 | = en |
| pt | Paraplegia espástica autossómica recessiva tipo 59 | |
| pl | Autosomalna recesywna paraplegia spastyczna typu 59 | = en |
| cs | Autozomálně recesivní spastická paraplegie, typ 59 | = en |
| uk | Аутосомно-рецесивна спастична параплегія, тип 59 | = en |
| zh | 常染色体隐性遗传痉挛性截瘫59型 | = en |
| tr | Otozomal resesif spastik parapleji tip 59 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G11.4 | NTBT | attributed | validated |
| ICD-11 | 8B44.01 | NTBT | attributed | validated |
| MONDO | 0018416 | E | validated | |
| UMLS | C4750857 | E | validated | |
| GARD | 21695 | 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:100981Autosomal recessive complex spastic paraplegia
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| USP8 | Disease-causing germline mutation(s) in | Assessed | HGNC:12631 | ENSG00000138592 | 603158 | 15q21.2 | ubiquitin specific peptidase 8 | 24482476[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 24482476[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24482476[PMID] |
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
11 annotations · validated 2018-10-31| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001258 | Spastic paraplegia | |
| Frequent (79-30%) | ||
| HP:0002169 | Clonus | |
| HP:0002509 | Limb hypertonia | |
| HP:0002395 | Lower limb hyperreflexia | |
| HP:0002061 | Lower limb spasticity | |
| HP:0000639 | Nystagmus | |
| HP:0002064 | Spastic gait | |
| HP:0001762 | Talipes equinovarus | |
| Occasional (29-5%) | ||
| HP:0001249 | Intellectual disability | |
| Excluded (0%) | ||
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:0002500 | Abnormal cerebral white matter morphology | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 24482476[PMID]_27271711[PMID]_27217339[PMID]_24954637[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/401795
- This record as JSON: /data/d/401795.json