Gillespie Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases, Mental diseases
Aliases & Descriptions for Gillespie Syndrome:
Orphanet epidemiological data:52
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Eye diseases, Mental diseases
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis
UniProtKB/Swiss-Prot:68 Aniridia, cerebellar ataxia and mental deficiency: A rare condition consisting of partial rudimentary iris, cerebellar impairment of the ability to perform coordinated voluntary movements, and mental retardation.
MalaCards based summary: Gillespie Syndrome, also known as aniridia, cerebellar ataxia, and mental retardation, is related to aniridia and cerebellar ataxia, and has symptoms including mask-like facies, incoordination and aplasia/hypoplasia of the iris. An important gene associated with Gillespie Syndrome is PAX6 (Paired Box 6), and among its related pathways is fMLP Pathway. Affiliated tissues include eye and skin, and related mouse phenotype muscle.
Genetics Home Reference:24 Gillespie syndrome is a disorder that involves eye abnormalities, problems with balance and coordinating movements (ataxia), and mild to moderate intellectual disability.
Wikipedia:69 Gillespie syndrome, also called aniridia, cerebellar ataxia and mental deficiency. is a rare genetic... more...
Description from OMIM:50 206700
Diseases related to Gillespie Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of diseases related to Gillespie Syndrome:
Symptoms by clinical synopsis from OMIM:206700
Clinical features from OMIM:206700
Symptoms:52 (show all 11)
HPO human phenotypes related to Gillespie Syndrome:(show all 13)
UMLS symptoms related to Gillespie Syndrome:cerebellar ataxia
Drugs for Gillespie Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 23)
Interventional clinical trials:(show all 17)
Search NIH Clinical Center for Gillespie Syndrome
MalaCards organs/tissues related to Gillespie Syndrome:34
Articles related to Gillespie Syndrome:(show all 18)
Search GEO for disease gene expression data for Gillespie Syndrome.
Pathways related to Gillespie Syndrome according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet