Aniridia - cerebellar ataxia - intellectual deficit

General Information (adopted from Orphanet):

Synonyms, Signs: gillespie syndrome
Number of Symptoms 14
OrphanetNr: 1065
OMIM Id: 206700
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: > 10 families [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare disease with glaucoma as a major feature
 -Rare eye disease
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndromic aniridia
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
Syndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0000298) Mask-like facies Very frequent [Orphanet] 44 / 7739
2
(HPO:0000526) Aniridia 12 / 7739
3
(HPO:0008053) Aplasia/Hypoplasia of the iris Very frequent [Orphanet] 38 / 7739
4
(HPO:0000598) Abnormality of the ear Occasional [Orphanet] 98 / 7739
5
(HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
6
(HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
7
(HPO:0001251) Ataxia 413 / 7739
8
(HPO:0001249) Intellectual disability 1089 / 7739
9
(HPO:0100022) Abnormality of movement Frequent [Orphanet] 129 / 7739
10
(HPO:0004414) Abnormality of the pulmonary artery Occasional [Orphanet] 50 / 7739
11
(HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
12
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
14
(HPO:0001321) Cerebellar hypoplasia 114 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Gillespie (1965) described brothers and sisters with aniridia, cerebellar ataxia, and mental retardation, which had apparently not been reported previously, although cerebellar ataxia, mental deficiency and congenital cataracts are known in the Marinesco-Sjogren syndrome. The karyotype of each ...
Molecular genetics OMIM In a 6-year-old Caucasian boy with 'atypical Gillespie syndrome' (see 206700), consisting of partial aniridia, mild balance disorder, hand tremor, and learning disability, Ticho et al. (2006) identified a splice site mutation in the PAX6 gene (607108.0024). ...