GLSP
MCID: GLL028
MIFTS: 38

Gillespie Syndrome (GLSP) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases, Mental diseases

Aliases & Classifications for Gillespie Syndrome

Aliases & Descriptions for Gillespie Syndrome:

Name: Gillespie Syndrome 54 50 24 25 56 66 13 69
Aniridia, Cerebellar Ataxia, and Mental Retardation 54 24 25 66 29
Aniridia, Cerebellar Ataxia and Mental Deficiency 50 66
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome 56
Aniridia-Cerebellar Ataxia-Intellectual Disability 25
Partial Aniridia-Cerebellar Ataxia-Oligophrenia 25
Aniridia-Cerebellar Ataxia-Mental Deficiency 25
Glsp 66

Characteristics:

Orphanet epidemiological data:

56
aniridia-cerebellar ataxia-intellectual disability syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
gillespie syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 206700
Orphanet 56 ORPHA1065
UMLS via Orphanet 70 C0431401
ICD10 via Orphanet 34 G11.0
MedGen 40 C0431401

Summaries for Gillespie Syndrome

UniProtKB/Swiss-Prot : 66 Gillespie syndrome: A rare disease characterized by bilateral iris hypoplasia, congenital hypotonia, non-progressive ataxia, progressive cerebellar atrophy, 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 ataxia, scanning speech and intellectual disability. An important gene associated with Gillespie Syndrome is PAX6 (Paired Box 6), and among its related pathways/superpathways is Transcriptional Regulatory Network in Embryonic Stem Cell. The drugs Estradiol and Rifampin have been mentioned in the context of this disorder. Affiliated tissues include eye.

Genetics Home Reference : 25 Gillespie syndrome is a disorder that involves eye abnormalities, problems with balance and coordinating movements (ataxia), and mild to moderate intellectual disability.

Wikipedia : 71 Gillespie syndrome, also called aniridia, cerebellar ataxia and mental deficiency. is a rare genetic... more...

Description from OMIM: 206700

Related Diseases for Gillespie Syndrome

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

id Related Disease Score Top Affiliating Genes
1 aniridia 11.4
2 cerebellar ataxia 10.1
3 ataxia 10.1
4 jph2-related familial hypertrophic cardiomyopathy 9.8 ITPR1 PAX6
5 esophagitis 9.8
6 silver spastic paraplegia syndrome 9.7 ITPR1 PAX6

Graphical network of the top 20 diseases related to Gillespie Syndrome:



Diseases related to Gillespie Syndrome

Symptoms & Phenotypes for Gillespie Syndrome

Symptoms by clinical synopsis from OMIM:

206700

Clinical features from OMIM:

206700

Human phenotypes related to Gillespie Syndrome:

56 32 (show all 12)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Very frequent (99-80%) HP:0001251
2 scanning speech 56 32 Frequent (79-30%) HP:0002168
3 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
4 muscular hypotonia 56 32 Frequent (79-30%) HP:0001252
5 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
6 abnormality of movement 56 32 Frequent (79-30%) HP:0100022
7 hearing abnormality 56 32 Occasional (29-5%) HP:0000364
8 mask-like facies 56 32 Very frequent (99-80%) HP:0000298
9 abnormality of the pulmonary artery 56 32 Occasional (29-5%) HP:0004414
10 aniridia 56 32 Very frequent (99-80%) HP:0000526
11 neurological speech impairment 56 Frequent (79-30%)
12 cerebellar hypoplasia 32 HP:0001321

UMLS symptoms related to Gillespie Syndrome:


ataxia, cerebellar ataxia, static tremor

Drugs & Therapeutics for Gillespie Syndrome

Drugs for Gillespie Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 40)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757 53477783
2
Rifampin Approved Phase 3 13292-46-1 5458213 5381226
3
Isoniazid Approved Phase 3 54-85-3 3767
4
Pyrazinamide Approved Phase 3 98-96-4 1046
5
Norgestimate Approved Phase 3 35189-28-7 6540478
6
Moxifloxacin Approved, Investigational Phase 3 354812-41-2, 151096-09-2 152946
7
Ethambutol Approved Phase 3 74-55-5 3279 14052
8
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
9
Verteporfin Approved, Investigational Phase 3 129497-78-5
10 Estradiol valerate Phase 3 979-32-8
11 Contraceptive Agents Phase 3
12 Contraceptives, Oral Phase 3
13 Contraceptives, Oral, Combined Phase 3
14 Cytochrome P-450 CYP3A Inducers Phase 3
15 Norgestimate, ethinyl estradiol drug combination Phase 3
16 Topoisomerase Inhibitors Phase 3
17 Nucleic Acid Synthesis Inhibitors Phase 3
18 Dermatologic Agents Phase 3,Phase 2
19 Estradiol 17 beta-cypionate Phase 3
20 Estradiol 3-benzoate Phase 3
21 Anti-Bacterial Agents Phase 3
22 Photosensitizing Agents Phase 3,Phase 2
23 Hypolipidemic Agents Phase 3
24 Polyestradiol phosphate Phase 3
25 Anti-Infective Agents Phase 3
26 Fluoroquinolones Phase 3
27 Lipid Regulating Agents Phase 3
28 Antimetabolites Phase 3
29 Antibiotics, Antitubercular Phase 3
30 Antitubercular Agents Phase 3
31
Aminolevulinic acid Approved Phase 2 106-60-5 137
32 Pharmaceutical Solutions Phase 2
33
Epinephrine Approved, Vet_approved 51-43-4 5816
34
Lidocaine Approved, Vet_approved 137-58-6 3676
35
Benzocaine Approved 1994-09-7, 94-09-7 2337
36 tannic acid Approved, Nutraceutical
37 Anesthetics
38 Epinephryl borate
39 Racepinephrine
40 carnitine Nutraceutical

Interventional clinical trials:

(show all 17)
id Name Status NCT ID Phase
1 Controlled Comparison of Two Moxifloxacin Containing Treatment Shortening Regimens in Pulmonary Tuberculosis Completed NCT00864383 Phase 3
2 Two Studies to Determine if Verteporfin PDT is Effective & Safe in Treating Multiple Basal Cell Carcinoma of the Skin. Terminated NCT00049959 Phase 3
3 Efficacy, Safety and Tolerability of Topically Applied LDE225 Cream (Hedgehog Pathway Inhibitor) in Adult Patients With Nevoid Basal Cell Carcinoma Syndrome (NBCCS) Withdrawn NCT03070691 Phase 2, Phase 3
4 A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome Patients Completed NCT00961896 Phase 2
5 Trial of Patidegib Gel 2%, 4%, and Vehicle to Decrease the Number of Surgically Eligible Basal Cell Carcinomas (BCC) in Gorlin Syndrome Patients Completed NCT02762084 Phase 2
6 To Determine The Efficacy and Safety of GDC-0449 in Patients With Basal Cell Nevus Syndrome (BCNS) Completed NCT00957229 Phase 2
7 Trial Comparing the Effects of Intermittent Vismodegib vs. PDT in Patients With Multiple Basal Cell Carcinomas Completed NCT01556009 Phase 2
8 Efficacy, Safety and Pharmacokinetics of Oral LDE225 in Treatment of Patients With Nevoid Basal Cell Carcinoma Syndrome (NBCCS) Completed NCT01350115 Phase 2
9 Clinical Trial of Patidegib Gel 2%, 4%, and Vehicle Applied Once or Twice Daily to Decrease the Size of Sporadic Nodular Basal Cell Carcinomas Recruiting NCT02828111 Phase 2
10 Cohort Study: Perceptual Urge Sensation Unknown status NCT00971646
11 Blue vs Red Light During Levulan Based Photodynamic Therapy in Patients With Basal Cell Nevus Syndrome Completed NCT02157623
12 Levocarnitine in Treating Patients With Vismodegib-Associated Muscle Spasms Completed NCT01893892
13 A Clinical Trial of Dermacorder for Detecting Malignant Skin Lesions Completed NCT01014819
14 TranQuill™ Sling Snoreplasty for Snoring and Mild Obstructive Sleep Apnea: Completed NCT02364518
15 An Observational Study of the Effectiveness and Safety of Erivedge® in Patients With Advanced Basal Cell Carcinoma Recruiting NCT02371967
16 Evaluation of Mitochondrial Dysfunction in Severe Burn and Trauma Patients Recruiting NCT01812941
17 Targeted Hypoglossal Neurostimulation Study #3 Recruiting NCT02263859

Search NIH Clinical Center for Gillespie Syndrome

Genetic Tests for Gillespie Syndrome

Genetic tests related to Gillespie Syndrome:

id Genetic test Affiliating Genes
1 Aniridia, Cerebellar Ataxia, and Mental Retardation 29 24 PAX6

Anatomical Context for Gillespie Syndrome

MalaCards organs/tissues related to Gillespie Syndrome:

39
Eye

Publications for Gillespie Syndrome

Articles related to Gillespie Syndrome:

(show all 18)
id Title Authors Year
1
The Triad of Non-progressive Cerebellar Ataxia, Partial Aniridia and Psychomotor Delay - Gillespie Syndrome. ( 27109391 )
2016
2
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect. ( 27108798 )
2016
3
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome. ( 27124303 )
2016
4
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome. ( 27108797 )
2016
5
Esophageal dysmotility in gillespie syndrome. ( 24199016 )
2013
6
Gillespie syndrome with impaired accommodation. ( 19213284 )
2009
7
Gillespie syndrome with impaired accommodation. ( 19791732 )
2009
8
Cerebellar cognitive affective syndrome without global mental retardation in two relatives with Gillespie syndrome. ( 18387531 )
2008
9
Gillespie syndrome: additional findings and parental consanguinity. ( 17558851 )
2007
10
Gillespie syndrome: two further cases. ( 16900933 )
2006
11
[Present limitations of molecular biological diagnostics in Gillespie syndrome]. ( 11305191 )
2001
12
Gillespie syndrome phenotype with a t(X;11)(p22.32;p12) de novo translocation. ( 9512164 )
1998
13
Gillespie syndrome: a report of two further cases. ( 9217210 )
1997
14
Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation). ( 8188215 )
1994
15
Gillespie syndrome reported as bilateral congenital mydriasis. ( 7509186 )
1993
16
Gillespie syndrome, partial aniridia, cerebellar ataxia and mental retardation in mother and daughter. ( 7952360 )
1993
17
Syndrome of partial aniridia, cerebellar ataxia, and mental retardation--Gillespie syndrome. ( 2333873 )
1990
18
Partial aniridia, cerebellar ataxia, and mental deficiency (Gillespie syndrome) in two brothers. ( 3189393 )
1988

Variations for Gillespie Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Gillespie Syndrome:

66
id Symbol AA change Variation ID SNP ID
1 ITPR1 p.Glu2109Gln VAR_077462
2 ITPR1 p.Gly2554Arg VAR_077463 rs752281590
3 ITPR1 p.Phe2601Leu VAR_077464

ClinVar genetic disease variations for Gillespie Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ITPR1 NM_001168272.1(ITPR1): c.4654C> T (p.Gln1552Ter) single nucleotide variant Pathogenic rs878853171 GRCh38 Chromosome 3, 4706208: 4706208
2 ITPR1 NM_001168272.1(ITPR1): c.2137C> T (p.Arg713Ter) single nucleotide variant Pathogenic rs878853172 GRCh37 Chromosome 3, 4712588: 4712588
3 ITPR1 NM_001168272.1(ITPR1): c.6465+3A> T single nucleotide variant Pathogenic rs878853173 GRCh37 Chromosome 3, 4824428: 4824428
4 ITPR1 NM_001168272.1(ITPR1): c.6763+5G> T single nucleotide variant Pathogenic rs878853174 GRCh37 Chromosome 3, 4829828: 4829828
5 ITPR1 NM_001168272.1(ITPR1): c.7786_7788delAAG (p.Lys2596del) deletion Pathogenic rs878853175 GRCh37 Chromosome 3, 4856866: 4856868
6 ITPR1 NM_001168272.1(ITPR1): c.7758T> G (p.Phe2586Leu) single nucleotide variant Pathogenic rs878853176 GRCh37 Chromosome 3, 4856838: 4856838
7 ITPR1 NM_001168272.1(ITPR1): c.6281A> G (p.Glu2094Gly) single nucleotide variant Pathogenic rs878853177 GRCh37 Chromosome 3, 4821268: 4821268
8 ITPR1 NM_001168272.1(ITPR1): c.7615G> A (p.Gly2539Arg) single nucleotide variant Pathogenic rs752281590 GRCh37 Chromosome 3, 4856205: 4856205
9 ITPR1 NM_001168272.1(ITPR1): c.7615G> C (p.Gly2539Arg) single nucleotide variant Pathogenic rs752281590 GRCh37 Chromosome 3, 4856205: 4856205

Expression for Gillespie Syndrome

Search GEO for disease gene expression data for Gillespie Syndrome.

Pathways for Gillespie Syndrome

Pathways related to Gillespie Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.25 ITPR1 PAX6

GO Terms for Gillespie Syndrome

Sources for Gillespie Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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