Aniridia-intellectual disability syndrome
historical
Synonyms: Walker-Dyson syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- historical
An extremely rare autosomal dominant developmental defect of the eye described in several members of one family that is characterized by the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Aniridia-intellectual disability syndrome | Walker-Dyson syndrome |
| fr | Syndrome d'aniridie-déficience intellectuelle | Syndrome de Walker-Dyson |
| de | Aniridie-Intelligenzminderung-Syndrom | Walker-Dyson-Syndrom |
| es | Síndrome de aniridia-discapacidad intelectual | Síndrome de Walker-Dyson |
| it | Sindrome aniridia-disabilità cognitiva | Sindrome di Walker-Dyson |
| nl | Aniridie - intellectuele achterstand-syndroom | Syndroom van Walker-Dyson |
| pt | Síndrome de aniridia-perturbação do desenvolvimento intelectual | Síndrome Walker-Dyson |
| pl | Zespół aniridii i niepełnosprawności intelektualnej | Zespół Walkera i Dysona |
| cs | Syndrom zahrnující aniridii a mentální retardaci | Walkerův-Dysonův syndrom · Walker-Dysonův syndrom |
| uk | Синдром аніридії - інтелектуальної недостатності | Синдром Вокера-Дайсона |
| zh | 无虹膜-智力障碍综合征 | Walker-Dyson综合征 |
| tr | Aniridi-zihinsel yetersizlik sendromu | Walker-Dyson sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q13.1 | NTBT | attributed | validated |
| MONDO | 0015199 | E | validated | |
| MeSH | C536568 | E | validated | |
| UMLS | C2931243 | E | validated | |
| GARD | 5530 | 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 (7):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:98557Syndromic aniridia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:519292Syndromic ectopia lentis
rare developmental anomalies during embryogenesis; rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases - ORPHA:522554Syndromic genetic ectopia lentis
rare genetic 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 | 4422267[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_4422267[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 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000526 | Aniridia | |
| HP:0000518 | Cataract | |
| HP:0001083 | Ectopia lentis | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0000609 | Optic nerve hypoplasia | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1068
- This record as JSON: /data/d/1068.json