Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
historical
Synonyms: Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- historical
A rare, genetic, syndromic intellectual disability disorder characterized by the association of nonprogressive spastic quadriparesis, retinitis pigmentosa, intellectual disability, and variable deafness. There have been no further descriptions in the literature since 1976.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome | Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome |
| fr | Syndrome de tétraplégie spastique-déficience intellectuelle-rétinite pigmentaire | Syndrome de quadriplégie-déficience intellectuelle-rétinite pigmentaire |
| de | Spastische Tetraplegie-Retinitis pigmentosa-Intelligenzminderung-Syndrom | |
| es | Síndrome de tetraplejía espástica-retinosis pigmentaria-discapacidad intelectual | Síndrome de cuadriplejía espástica-retinosis pigmentaria-discapacidad intelectual |
| it | Sindrome tetraplegia spastica-retinite pigmentosa-disabilità intellettiva | Sindrome quadriplegia spastica-retinite pigmentosa-deficit cognitivo |
| nl | Spastische tetraplegie - retinitis pigmentosa - intellectuele achterstand-syndroom | Spastische quadriplegie - retinitis pigmentosa - intellectuele achterstand-syndroom |
| pt | Síndrome de tetraplegia espástica-retinite pigmentosa-perturbação do desenvolvimento intelectual | Síndrome de quadriplegia espástica-retinite pigmentosa-perturbação do desenvolvimento intelectual |
| pl | Tetraplegia spastyczna - zwyrodnienie barwnikowe siatkówki - niepełnosprawność intelektualna | Kwadriplegia spastyczna -zwyrodnienie barwnikowe siatkówki - niepełnosprawność intelektualna |
| cs | Syndrom zahrnující spastickou tetraplegii, retinitis pigmentosa a mentální retardaci | Syndrom zahrnující spastickou kvadruplegii, retinitis pigmentosa a mentální retardaci |
| uk | Синдром спастичної тетраплегії - пігментної дегенерації сітківки - інтелектуальної недостатності | Синдром спастичної квадриплегії - пігментного ретиніту - інтелектуальної недостатності |
| zh | 痉挛性四肢麻痹-色素性视网膜炎-智力障碍综合征 | 痉挛性四肢瘫-色素性视网膜炎-智力障碍综合征 |
| tr | Spastik tetrapleji-retinitis pigmentosa-zihinsel yetersizlik sendromu | Spastik kuadripleji-retinitis pigmentosa-zihinsel yetersizlik sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 270950 | E | validated | |
| ICD-10 | G82.4 | NTBT | attributed | validated |
| MONDO | 0010051 | E | validated | |
| UMLS | C4509974 | E | validated | |
| GARD | 4932 | 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 (2):
- ORPHA:716405Rare disorder with progressive generalized retinal disorder 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 cases | Worldwide | Case(s) | Validated | 1271602[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1271602[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
5 annotations · validated 2019-04-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002376 | Developmental regression | |
| HP:0008610 | Infantile sensorineural hearing impairment | |
| HP:0002187 | Intellectual disability, profound | |
| HP:0000510 | Rod-cone dystrophy | |
| HP:0001141 | Severely reduced visual acuity | |
Annotation source: 1271602[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3011
- This record as JSON: /data/d/3011.json