Spastic paraplegia-glaucoma-intellectual disability syndrome
historical
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- historical
A rare autosomal recessive complex spastic paraplegia characterized by the triad of spastic paraplegia, severe intellectual disability and glaucoma. Some patients may exhibit a milder phenotype, presenting with slowly progressive spastic paresis and moderate intellectual disability. There have been no further descriptions in the literature since 1986.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spastic paraplegia-glaucoma-intellectual disability syndrome | |
| fr | Syndrome de paraplégie spastique-glaucome-déficience intellectuelle | |
| de | Spastische Paraplegie-Glaukom-Intelligenzminderung-Syndrom | |
| es | Síndrome de paraplejía espástica-glaucoma-discapacidad intelectual | |
| it | Sindrome paraplegia spastica-glaucoma-disabilità intellettiva | |
| nl | Spastische paraplegie - glaucoom - intellectuele achterstand-syndroom | |
| pt | Síndrome de paraplegia espástica-glaucoma-perturbação do desenvolvimento intelectual | |
| pl | Paraplegia spastyczna - jaskra - niepełnosprawność intelektualna | |
| cs | Syndrom zahrnující spastickou paraplegii, glaukom a mentální retardaci | |
| uk | Синдром спастичної параплегії-глаукоми-інтелектуальної недостатності | |
| zh | 痉挛性截瘫-青光眼-智力障碍综合征 | |
| tr | Spastik parapleji-glokom-zihinsel yetersizlik sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 270850 | E | validated | |
| ICD-10 | G11.4 | NTBT | attributed | validated |
| MONDO | 0010049 | E | validated | |
| UMLS | C4518786 | E | validated | |
| GARD | 4931 | 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 (3):
- ORPHA:100981Autosomal recessive complex spastic paraplegia
rare genetic diseases; rare neurological diseases - ORPHA:98638Rare disease with glaucoma as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
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 families | Worldwide | Family(ies) | Validated | 7298353[PMID]_3802560[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7298353[PMID]_3802560[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
4 annotations · validated 2017-10-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000501 | Glaucoma | |
| HP:0001249 | Intellectual disability | |
| HP:0010550 | Paraplegia | |
| HP:0001257 | Spasticity | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2818
- This record as JSON: /data/d/2818.json