ORPHA:1065
Aniridia-cerebellar ataxia-intellectual disability syndrome
Synonyms: Gillespie syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic developmental and neurological disorder characterized by the association of partial bilateral aniridia (or iris hypoplasia), with non-progressive cerebellar ataxia, intellectual disability, and congenital hypotonia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Aniridia-cerebellar ataxia-intellectual disability syndrome | Gillespie syndrome |
| fr | Syndrome d'aniridie-ataxie cérébelleuse-déficience intellectuelle | Syndrome de Gillespie |
| de | Aniridie-zerebelläre Ataxie-Intelligenzminderung-Syndrom | Gillespie-Syndrom |
| es | Síndrome de aniridia-ataxia cerebelosa-discapacidad intelectual | Síndrome de Gillespie |
| it | Sindrome aniridia-atassia cerebellare-disabilità cognitiva | Sindrome di Gillespie |
| nl | Aniridie - cerebellaire ataxie - intellectuele achterstand-syndroom | Syndroom van Gillespie |
| pt | Síndrome de aniridia-ataxia cerebelosa-perturbação do desenvolvimento intelectual | Síndrome Gillespie |
| pl | Brak tęczówki - ataksja móżdźkowa - niepełnosprawność intelektualna | Zespół Gillespie |
| cs | Syndrom zahrnující aniridii, cerebelární ataxii a mentální retardaci | Gillespieho syndrom |
| uk | Синдром аніридії - мозочкової атаксії - інтелектуальної недостатності | Синдром Гіллеспі |
| zh | 无虹膜症-小脑共济失调-智力障碍综合征 | Gillespie综合征 |
| tr | Aniridia-serebellar ataksi-zihinsel yetersizlik sendromu | Gillespie sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 206700 | E | validated | |
| ICD-10 | G11.0 | NTBT | attributed | validated |
| MONDO | 0008795 | E | validated | |
| MeSH | C536370 | E | validated | |
| UMLS | C0431401 | E | validated | |
| GARD | 13 | E | validated | |
| MedDRA | 10083858 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:98557Syndromic aniridia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ITPR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6180 | ENSG00000150995 | 147265 | 3p26.1 | inositol 1,4,5-trisphosphate receptor type 1 | 27108797[PMID]_27108798[PMID] |
| PAX6 | Disease-causing germline mutation(s) in | Assessed | HGNC:8620 | ENSG00000007372 | 607108 | 11p13 | paired box 6 | 17595013[PMID]_17148041[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 22 families | Worldwide | Family(ies) | Validated | 27108797[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27108797[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.
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HPO phenotypes
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000526 | Aniridia | |
| HP:0001251 | Ataxia | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0000298 | Mask-like facies | |
| Frequent (79-30%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0001252 | Hypotonia | |
| HP:0002168 | Scanning speech | |
| Occasional (29-5%) | ||
| HP:0004414 | Abnormality of the pulmonary artery | |
| HP:0000364 | Hearing abnormality | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1065
- This record as JSON: /data/d/1065.json