Spastic paraplegia-precocious puberty syndrome
historical
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- historical
Spastic paraplegia-precocious puberty syndrome is a complex form of hereditary spastic paraplegia characterized by the onset of progressive spastic paraplegia associated with precocious puberty (due to Leydig cell hyperplasia) in childhood (at the age of 2 years). Moderate intellectual disability was also reported. There have been no further descriptions in the literature since 1983.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spastic paraplegia-precocious puberty syndrome | |
| fr | Syndrome de parésie spastique-puberté précoce | |
| de | Spastische Paraplegie-vorzeitige Pubertät-Syndrom | |
| es | Síndrome de paraplejía espástica-pubertad precoz | |
| it | Paraplegia spastica - glaucoma - pubertà precoce | |
| nl | Spastische paraplegie - vroegtijdige puberteit-syndroom | |
| pt | Síndrome de paraplegia espástica-glaucoma-puberdade precoce | |
| pl | Paraplegia spastyczna - przedwczesne pokwitanie | |
| cs | Syndrom zahrnující spastickou paraplegii a předčasnou pubertu | |
| uk | Спастична параплегія - синдром передчасного статевого дозрівання | |
| zh | 痉挛性截瘫-性早熟综合征 | |
| tr | Spastik parapleji-erken büyümüş ergenlik sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 182820 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| MONDO | 0008443 | E | validated | |
| MeSH | C536874 | E | validated | |
| UMLS | C4518543 | E | validated | |
| GARD | 4918 | 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:100979Autosomal dominant complex spastic paraplegia
rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 6639408[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6639408[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
6 annotations · validated 2018-11-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001348 | Brisk reflexes | |
| HP:0001260 | Dysarthria | |
| HP:0010791 | Hyperplasia of the Leydig cells | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0008185 | Precocious puberty in males | |
| HP:0007020 | Progressive spastic paraplegia | |
Annotation source: 6639408[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2826
- This record as JSON: /data/d/2826.json