MCID: GLL028
MIFTS: 30

Gillespie Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases, Mental diseases categories

Summaries for Gillespie Syndrome

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Genetics Home Reference:21 Gillespie syndrome is a disorder that involves eye abnormalities, problems with balance and coordinating movements (ataxia), and mild to moderate intellectual disability.

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). Affiliated tissues include eye.

Wikipedia:63 Gillespie syndrome, also called aniridia, cerebellar ataxia and mental deficiency and Gillespie\'s... more...

Description from OMIM:45 206700

Aliases & Classifications for Gillespie Syndrome

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Gillespie Syndrome, Aliases & Descriptions:

Name: Gillespie Syndrome 45 10 41 21 47 60
Aniridia, Cerebellar Ataxia, and Mental Retardation 45 20 21 22
Aniridia - Cerebellar Ataxia - Intellectual Disability 41 47
Aniridia-Cerebellar Ataxia-Intellectual Disability 21
 
Aniridia, Cerebellar Ataxia and Mental Deficiency 41
Partial Aniridia-Cerebellar Ataxia-Oligophrenia 21
Aniridia-Cerebellar Ataxia-Mental Deficiency 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
gillespie syndrome:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

OMIM45 206700
Orphanet47 1065
UMLS via Orphanet61 C0431401

Related Diseases for Gillespie Syndrome

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Diseases related to Gillespie Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1aniridia10.5
2cerebellar ataxia10.4
3mental retardation10.4
4ataxia10.4
5esophagitis10.1

Graphical network of diseases related to Gillespie Syndrome:



Diseases related to gillespie syndrome

Symptoms for Gillespie Syndrome

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Symptoms by clinical synopsis from OMIM:

206700

Clinical features from OMIM:

206700

Symptoms:

 47 (show all 10)
  • expressionless face/amimia
  • aniridia/iris hypoplasia
  • ataxia/incoordination/trouble of the equilibrium
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal recessive inheritance
  • movement disorder
  • hypotonia
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • anomalies of ear and hearing
  • pulmonary artery stenosis/absence/hypoplasia of the pulmonary branches

HPO human phenotypes related to Gillespie Syndrome:

(show all 14)
id Description Frequency HPO Source Accession
1 mask-like facies hallmark (90%) HP:0000298
2 incoordination hallmark (90%) HP:0002311
3 aplasia/hypoplasia of the iris hallmark (90%) HP:0008053
4 cognitive impairment hallmark (90%) HP:0100543
5 muscular hypotonia typical (50%) HP:0001252
6 neurological speech impairment typical (50%) HP:0002167
7 abnormality of movement typical (50%) HP:0100022
8 hearing abnormality occasional (7.5%) HP:0000364
9 abnormality of the pulmonary artery occasional (7.5%) HP:0004414
10 autosomal recessive inheritance HP:0000007
11 aniridia HP:0000526
12 intellectual disability HP:0001249
13 ataxia HP:0001251
14 cerebellar hypoplasia HP:0001321

Drugs & Therapeutics for Gillespie Syndrome

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Drug clinical trials:

Search ClinicalTrials for Gillespie Syndrome

Search NIH Clinical Center for Gillespie Syndrome

Genetic Tests for Gillespie Syndrome

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Genetic tests related to Gillespie Syndrome:

id Genetic test Affiliating Genes
1 Aniridia, Cerebellar Ataxia, and Mental Retardation20 22 PAX6

Anatomical Context for Gillespie Syndrome

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MalaCards organs/tissues related to Gillespie Syndrome:

31
Eye

Animal Models for Gillespie Syndrome or affiliated genes

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Publications for Gillespie Syndrome

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Articles related to Gillespie Syndrome:

(show all 13)
idTitleAuthorsYear
1
Esophageal dysmotility in gillespie syndrome. (24199016)
2013
2
Gillespie syndrome with impaired accommodation. (19791732)
2009
3
Gillespie syndrome with impaired accommodation. (19213284)
2009
4
Cerebellar cognitive affective syndrome without global mental retardation in two relatives with Gillespie syndrome. (18387531)
2008
5
Gillespie syndrome: additional findings and parental consanguinity. (17558851)
2007
6
Gillespie syndrome: two further cases. (16900933)
2006
7
Present limitations of molecular biological diagnostics in Gillespie syndrome]. (11305191)
2001
8
Gillespie syndrome phenotype with a t(X;11)(p22.32;p12) de novo translocation. (9512164)
1998
9
Gillespie syndrome: a report of two further cases. (9217210)
1997
10
Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation). (8188215)
1994
11
Gillespie syndrome reported as bilateral congenital mydriasis. (7509186)
1993
12
Syndrome of partial aniridia, cerebellar ataxia, and mental retardation--Gillespie syndrome. (2333873)
1990
13
Partial aniridia, cerebellar ataxia, and mental deficiency (Gillespie syndrome) in two brothers. (3189393)
1988

Variations for Gillespie Syndrome

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Clinvar genetic disease variations for Gillespie Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1PAX6PAX6, IVS2, T-A, +2single nucleotide variantPathogenic
2PAX6NM_000280.4(PAX6): c.771G> A (p.Trp257Ter)single nucleotide variantPathogenicrs121907929GRCh37Chr 11, 31815345: 31815345

Expression for genes affiliated with Gillespie Syndrome

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Search GEO for disease gene expression data for Gillespie Syndrome.

Pathways for genes affiliated with Gillespie Syndrome

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Compounds for genes affiliated with Gillespie Syndrome

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GO Terms for genes affiliated with Gillespie Syndrome

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Products for genes affiliated with Gillespie Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Gillespie Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet