GLSP
MCID: GLL028
MIFTS: 53

Gillespie Syndrome (GLSP)

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

Aliases & Classifications for Gillespie Syndrome

MalaCards integrated aliases for Gillespie Syndrome:

Name: Gillespie Syndrome 56 12 74 52 25 58 73 29 13 6 15 71
Aniridia, Cerebellar Ataxia, and Mental Retardation 56 25 73 39
Aniridia, Cerebellar Ataxia and Mental Deficiency 12 52 73
Glsp 56 12 73
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome 12 58
Aniridia Cerebellar Ataxia Mental Deficiency 74 43
Aniridia, Cerebellar Ataxia, and Intellectual Disability 6
Aniridia-Cerebellar Ataxia-Intellectual Disability 25
Partial Aniridia-Cerebellar Ataxia-Oligophrenia 25
Aniridia-Cerebellar Ataxia-Mental Deficiency 25

Characteristics:

Orphanet epidemiological data:

58
aniridia-cerebellar ataxia-intellectual disability syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant
autosomal recessive (in some patients)

Miscellaneous:
three patients with homozygous or compound heterozygous mutations have been reported (last curated june 2016)


HPO:

31

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Gillespie Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1065 Definition A rare, congenital , neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia , and intellectual disability . Epidemiology To date, less than 30 patients have been reported in the literature. Clinical description Aniridia is visible at birth as fixed dilated pupils and is associated with photobia. It can be accompanied with additional ocular findings such as foveal, patchy iris and/or optic nerve hypoplasia, retinal hypopigmentation, and/or pigmentary macular changes leading to reduced visual acuity. Cataract and corneal opacities are never observed. Non-progressive cerebellar ataxia is associated with delayed developmental milestones and hypotonia (visible from the first year of life), gait and balance disorders with incoordination, intention tremor, and scanning speech. Intellectual disability is variable. Mild facial dysmorphic features may be observed such as high forehead, hypertelorism, epicanthic folds, depressed nasal bridge with anteverted nostrils, and thin upper lip. The cases referred to as atypical Gillespie syndrome correspond to those showing a more complex phenotype , associating additional ocular findings and a mild dysmorphic face. Etiology The etiology is unknown. Some atypical cases have been linked to mutations in the PAX6 gene (11p13), encoding a transcriptional regulator expressed in ocular, cerebral, olfactory, and pancreatic tissues . One case has also been reported to be due to a de novo translocation of chromosome X and 11 t(X;11) (p22.32;p12), but with no involvement of the PAX6 gene. Diagnostic methods A presumptive diagnosis can be made in the first months of life: on slit lamp examination, the pupil border of the iris typically shows a scalloped, 'festooned' edge with iris strands extending onto the anterior lens surface at regular intervals. In many cases, neuroimaging studies (CT scan , MRI ) show cerebellar hypoplasia or atrophy, especially of the vermis, with occasional white matter changes, and diffuse atrophy of the cerebral hemispheres, brainstem and frontal cortex. Differential diagnosis Differential diagnosis includes Marinesco-Sjogren syndrome (see this term) in which congenital cataract is present, as well as cerebellar ataxia, intellectual disability, and aniridia (see this term). Genetic counseling Sporadic and familial cases have been observed. Although some reported families are compatible with autosomal dominant inheritance, Gillespie syndrome is more likely to be an autosomal recessive condition. Management and treatment Management includes regular ophthalmologic evaluation with prescription of optical aids, physical, speech and occupational therapy for muscular re-education. Prognosis There are no reports on the natural history of the disease. Prognosis depends on the proper management and anticipation of ocular and mental symptoms and disabilities. Visit the Orphanet disease page for more resources.

MalaCards based summary : Gillespie Syndrome, also known as aniridia, cerebellar ataxia, and mental retardation, is related to aniridia 1 and wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome, and has symptoms including ataxia, cerebellar ataxia and static tremor. An important gene associated with Gillespie Syndrome is ITPR1 (Inositol 1,4,5-Trisphosphate Receptor Type 1), and among its related pathways/superpathways are Circadian entrainment and GABAergic synapse. Affiliated tissues include eye, bone and brain, and related phenotypes are intellectual disability and global developmental delay

Disease Ontology : 12 A syndrome characterized by iris hypoplasia, congenital hypotonia, cerebellar hypoplasia, variably cognitive impairment, and ataxia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in ITPR1 on chromosome 3p26.1.

Genetics Home Reference : 25 Gillespie syndrome is a disorder that involves eye abnormalities, weak muscle tone from birth (congenital hypotonia), problems with balance and coordinating movements (ataxia), and mild to moderate intellectual disability. Gillespie syndrome is characterized by underdevelopment (hypoplasia) of the colored part of the eye (the iris). In most affected individuals, part of the iris is missing (partial aniridia) in both eyes. In addition, the irises have a characteristic uneven pattern known as "scalloping" at the inner (pupillary) edge. The pupils are enlarged (dilated) and are fixed, which means they do not get smaller (constrict) in response to light. These abnormalities are thought to result from problems in the development or maintenance of the tiny muscles that allow the pupil to contract (sphincter pupillae). The eye abnormalities can cause blurry vision (reduced visual acuity) and increased sensitivity to light (photophobia). Rapid, involuntary eye movements (nystagmus) can also occur in Gillespie syndrome. The balance and movement problems in Gillespie syndrome result from hypoplasia of the cerebellum, which is the part of the brain that coordinates movement. This abnormality can cause hypotonia and delayed development of motor skills such as walking. In addition, difficulty controlling the muscles of the mouth can lead to delayed speech development. The difficulties with coordination generally become noticeable in early childhood when the individual is learning these skills. People with Gillespie syndrome usually continue to have an unsteady pattern of walking (gait) and speech problems throughout life. Other features of Gillespie syndrome can include abnormalities in the bones of the spine (vertebrae) and malformations of the heart.

OMIM : 56 Gillespie syndrome is usually diagnosed in the first year of life by the presence of fixed dilated pupils in a hypotonic infant. Affected individuals have a characteristic form of iris hypoplasia in which the pupillary border of the iris exhibits a scalloped or 'festooned' edge, with iris strands extending onto the anterior lens surface at regular intervals. The key extraocular features of Gillespie syndrome are congenital hypotonia, progressive cerebellar hypoplasia, and ataxia, as well as variable cognitive impairment that is usually mild (summary by Gerber et al., 2016 and McEntagart et al., 2016). (206700)

UniProtKB/Swiss-Prot : 73 Gillespie syndrome: A rare disease characterized by bilateral iris hypoplasia, congenital hypotonia, non-progressive ataxia, progressive cerebellar atrophy, and mental retardation.

Wikipedia : 74 Gillespie syndrome, also called aniridia, cerebellar ataxia and mental deficiency. is a rare genetic... more...

Related Diseases for Gillespie Syndrome

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

(show all 49)
# Related Disease Score Top Affiliating Genes
1 aniridia 1 32.4 PITX2 PAX6 IMMP1L FOXC1 DNAJC24
2 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 30.0 PITX2 PAX6 IMMP1L FOXC1 DNAJC24
3 coloboma of macula 29.9 RAX PITX2 PAX6 IMMP1L FOXC1
4 aniridia and absent patella 11.3
5 aniridia 2 11.3
6 ataxia and polyneuropathy, adult-onset 10.6
7 alacrima, achalasia, and mental retardation syndrome 10.5
8 isolated aniridia 10.4 PAX6 FOXC1
9 hypotonia 10.4
10 miliaria profunda 10.4 ITPR2 FOXC1
11 axenfeld-rieger syndrome, type 2 10.3 PITX2 FOXC1
12 cerebral palsy, ataxic, autosomal recessive 10.3 ITPR1 AHCYL1
13 congenital aphakia 10.3 RAX PAX6
14 coloboma of optic nerve 10.3 PAX6 IMMP1L DNAJC24
15 microphthalmia, isolated 3 10.3 RAX PAX6
16 pax6-related aniridia 10.3
17 anhidrosis, isolated, with normal sweat glands 10.2 ITPR3 ITPR2 ITPR1
18 hydrophthalmos 10.2 PITX2 PAX6 FOXC1
19 juvenile glaucoma 10.2 PITX2 PAX6 FOXC1
20 intestinal atresia 10.2 PITX2 PAX6 FOXC1
21 axenfeld-rieger syndrome, type 3 10.2 PITX2 PAX6 FOXC1
22 persistent hyperplastic primary vitreous 10.2 PITX2 PAX6 FOXC1
23 otopalatodigital syndrome, type ii 10.2 PITX2 FOXC1
24 primary congenital glaucoma 10.2 PITX2 PAX6 FOXC1
25 colobomatous microphthalmia 10.2 RAX PITX2 PAX6
26 glaucoma 3, primary congenital, a 10.2 PITX2 PAX6 FOXC1
27 cerebellar hypoplasia 10.2
28 anterior segment dysgenesis 10.2 PITX2 PAX6 FOXC1
29 keratitis, hereditary 10.2 PITX2 PAX6 FOXC1
30 corneal disease 10.1 PITX2 PAX6 FOXC1
31 axenfeld-rieger syndrome, type 1 10.1 RAX PITX2 PAX6 FOXC1
32 axenfeld-rieger syndrome 10.1 RAX PITX2 PAX6 FOXC1
33 microphthalmia, isolated 2 10.1 RAX PAX6
34 ataxia, sensory, 1, autosomal dominant 10.1 ZNF646 RNF170
35 intraocular pressure quantitative trait locus 10.1 PITX2 PAX6 FOXC1
36 spinocerebellar ataxia 29 10.1 ITPR1 CA8 AHCYL1
37 congenital anomalies of kidney and urinary tract 2 10.0
38 pulmonic stenosis 10.0
39 potocki-shaffer syndrome 10.0
40 multisystemic smooth muscle dysfunction syndrome 10.0
41 aniridia 3 10.0
42 apraxia 10.0
43 pulmonary valve stenosis 10.0
44 syndromic aniridia 10.0
45 pseudobulbar palsy 10.0 ZNF646 RNF170
46 iris disease 10.0 PITX2 PAX6 IMMP1L FOXC1 DNAJC24
47 wolfram syndrome 2 9.9 ITPR3 ITPR1
48 sclerocornea 9.8 RAX PAX6 FOXC1 ARHGAP6
49 spastic paraplegia 62, autosomal recessive 9.7 ZNF646 RNF170 ERLIN1

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



Diseases related to Gillespie Syndrome

Symptoms & Phenotypes for Gillespie Syndrome

Human phenotypes related to Gillespie Syndrome:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
4 mask-like facies 58 31 hallmark (90%) Very frequent (99-80%) HP:0000298
5 aniridia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000526
6 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
7 abnormality of movement 58 31 frequent (33%) Frequent (79-30%) HP:0100022
8 scanning speech 58 31 frequent (33%) Frequent (79-30%) HP:0002168
9 hearing abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0000364
10 abnormality of the pulmonary artery 58 31 occasional (7.5%) Occasional (29-5%) HP:0004414
11 neurological speech impairment 58 Frequent (79-30%)
12 visual impairment 31 HP:0000505
13 nystagmus 31 HP:0000639
14 slurred speech 31 HP:0001350
15 motor delay 31 HP:0001270
16 hypoplasia of the iris 31 HP:0007676
17 cerebellar hypoplasia 31 HP:0001321
18 postural tremor 31 HP:0002174

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
ataxia
slurred speech
postural tremor
delayed motor development
mental retardation, mild to severe
more
Head And Neck Eyes:
nystagmus
iris hypoplasia
scalloped pupillary margins of iris
visual impairment, mild to moderate

Clinical features from OMIM:

206700

UMLS symptoms related to Gillespie Syndrome:


ataxia, cerebellar ataxia, static tremor

MGI Mouse Phenotypes related to Gillespie Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 CA8 ERLIN1 GLS ITPR1 ITPR2 ITPR3
2 digestive/alimentary MP:0005381 9.76 AHCYL1 FOXC1 ITPR2 ITPR3 PAX6 PITPNA
3 growth/size/body region MP:0005378 9.73 AHCYL1 ARHGAP6 DNAJC24 FOXC1 ITPR1 ITPR2
4 normal MP:0002873 9.23 ARHGAP6 FOXC1 GLS ITPR2 ITPR3 PAX6

Drugs & Therapeutics for Gillespie Syndrome

Search Clinical Trials , NIH Clinical Center for Gillespie Syndrome

Cochrane evidence based reviews: aniridia cerebellar ataxia mental deficiency

Genetic Tests for Gillespie Syndrome

Genetic tests related to Gillespie Syndrome:

# Genetic test Affiliating Genes
1 Gillespie Syndrome 29 ITPR1

Anatomical Context for Gillespie Syndrome

MalaCards organs/tissues related to Gillespie Syndrome:

40
Eye, Bone, Brain, Cortex, Cerebellum, Heart

Publications for Gillespie Syndrome

Articles related to Gillespie Syndrome:

(show top 50) (show all 51)
# Title Authors PMID Year
1
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect. 61 6 56
27108798 2016
2
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome. 6 61 56
27108797 2016
3
Gillespie syndrome: additional findings and parental consanguinity. 56 6 61
17558851 2007
4
Gillespie syndrome, partial aniridia, cerebellar ataxia and mental retardation in mother and daughter. 56 6 61
7952360 1993
5
A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's. 6 56
27862915 2017
6
Cerebellar cognitive affective syndrome without global mental retardation in two relatives with Gillespie syndrome. 61 56
18387531 2008
7
[Gillespie syndrome: an uncommon presentation of congenital aniridia]. 56 61
17287663 2007
8
Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation. 56 61
17148041 2006
9
[Gillespie syndrome: 2 familial cases]. 61 56
16919425 2006
10
Gillespie syndrome: two further cases. 61 56
16900933 2006
11
Gillespie syndrome phenotype with a t(X;11)(p22.32;p12) de novo translocation. 61 56
9512164 1998
12
Gillespie syndrome: a report of two further cases. 56 61
9217210 1997
13
Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation). 61 56
8188215 1994
14
Syndrome of partial aniridia, cerebellar ataxia, and mental retardation--Gillespie syndrome. 61 56
2333873 1990
15
Partial aniridia, cerebellar ataxia, and mental deficiency (Gillespie syndrome) in two brothers. 56 61
3189393 1988
16
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. 56
22770980 2012
17
A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation. 56
17595013 2007
18
Gillespie's syndrome (incomplete aniridia, cerebellar ataxia and oligophrenia). 56
6544390 1984
19
Ataxia with aniridia of Gillespie: a case report. 56
7192834 1981
20
Non-progressive cerebellar ataxia, aplasia of pupillary zone of iris, and mental subnormality (Gillespie's syndrome) affecting 3 members of a non-consanguineous family in 2 generations. 56
513084 1979
21
The syndrome of congenital cerebellar ataxia, aniridia and mental retardation. 56
5558750 1971
22
ANIRIDIA, CEREBELLAR ATAXIA, AND OLIGOPHRENIA IN SIBLINGS. 56
14246186 1965
23
Extraction of triterpenoid compounds from Ganoderma Lucidum spore powder through a dual-mode sonication process. 61
32363953 2020
24
A C1976Y missense mutation in the mouse Ip3r1 gene leads to short-term mydriasis and unfolded protein response in the iris constrictor muscles. 61
31391379 2020
25
Production of triterpenoid compounds from Ganoderma lucidum spore powder using ultrasound-assisted extraction. 61
31755817 2020
26
The genetic architecture of aniridia and Gillespie syndrome. 61
30242502 2019
27
[Congenital aniridia in children]. 61
30983291 2019
28
Synthesis and Evaluation of Herbal Chitosan from Ganoderma Lucidum Spore Powder for Biomedical Applications. 61
30279587 2018
29
Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features. 61
30249237 2018
30
A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome. 61
29663667 2018
31
A retrospective study of Ganoderma Lucidum Spore Powder for patients with epilepsy. 61
29879039 2018
32
Spore powder of Ganoderma lucidum for the treatment of Alzheimer disease: A pilot study. 61
29742702 2018
33
Additional features of Gillespie syndrome in two Brazilian siblings with a novel ITPR1 homozygous pathogenic variant. 61
29169895 2018
34
Multiple ABC glucoside transporters mediate sugar-stimulated growth in the heterocyst-forming cyanobacterium Anabaena sp. strain PCC 7120. 61
29159995 2018
35
Missense mutation in the ITPR1 gene presenting with ataxic cerebral palsy: Description of an affected family and literature review. 61
28826917 2017
36
Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome. 61
28698159 2017
37
Specific Glucoside Transporters Influence Septal Structure and Function in the Filamentous, Heterocyst-Forming Cyanobacterium Anabaena sp. Strain PCC 7120. 61
28096449 2017
38
The Triad of Non-progressive Cerebellar Ataxia, Partial Aniridia and Psychomotor Delay - Gillespie Syndrome. 61
27109391 2016
39
Anti-Food Allergic Activity of Sulfated Polysaccharide from Gracilaria lemaneiformis is Dependent on Immunosuppression and Inhibition of p38 MAPK. 61
27186807 2016
40
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome. 61
27124303 2016
41
Effect of Ganoderma lucidum spores intervention on glucose and lipid metabolism gene expression profiles in type 2 diabetic rats. 61
25994182 2015
42
Esophageal dysmotility in gillespie syndrome. 61
24199016 2013
43
An abnormal elevation of serum CA72-4 by ganoderma lucidum spore powder. 61
23884232 2013
44
Neuroprotective effects of water-soluble Ganoderma lucidum polysaccharides on cerebral ischemic injury in rats. 61
20600765 2010
45
Gillespie syndrome with impaired accommodation. 61
19791732 2009
46
Gillespie syndrome with impaired accommodation. 61
19213284 2009
47
Aniridia among children and teenagers in Sweden and Norway. 61
18494744 2008
48
[Present limitations of molecular biological diagnostics in Gillespie syndrome]. 61
11305191 2001
49
Gillespie syndrome reported as bilateral congenital mydriasis. 61
7509186 1993
50
Comparative analysis of current US and EC biosafety regulations and their impact on the industry. US National Institutes of Health. 61
7763892 1993

Variations for Gillespie Syndrome

ClinVar genetic disease variations for Gillespie Syndrome:

6 (show top 50) (show all 95) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ITPR1 NM_001099952.3(ITPR1):c.1252-2A>TSNV Pathogenic 617623 rs1559638068 3:4703764-4703764 3:4662080-4662080
2 ITPR1 NM_002222.6(ITPR1):c.4627C>T (p.Gln1543Ter)SNV Pathogenic 235915 rs878853171 3:4747892-4747892 3:4706208-4706208
3 ITPR1 NM_002222.6(ITPR1):c.2137C>T (p.Arg713Ter)SNV Pathogenic 235916 rs878853172 3:4712588-4712588 3:4670904-4670904
4 ITPR1 NM_002222.6(ITPR1):c.6321+3A>TSNV Pathogenic 235917 rs878853173 3:4824428-4824428 3:4782744-4782744
5 ITPR1 NM_002222.6(ITPR1):c.6619+5G>TSNV Pathogenic 235918 rs878853174 3:4829828-4829828 3:4788144-4788144
6 ITPR1 NM_002222.6(ITPR1):c.7639_7641AAG[1] (p.Lys2548del)short repeat Pathogenic 235919 rs878853175 3:4856861-4856863 3:4815177-4815179
7 ITPR1 NM_002222.6(ITPR1):c.7614T>G (p.Phe2538Leu)SNV Pathogenic 235920 rs878853176 3:4856838-4856838 3:4815154-4815154
8 ITPR1 NM_002222.6(ITPR1):c.6137A>G (p.Glu2046Gly)SNV Pathogenic 235921 rs878853177 3:4821268-4821268 3:4779584-4779584
9 ITPR1 NM_002222.6(ITPR1):c.279+4_279+7delshort repeat Pathogenic 437908 rs1553654413 3:4669561-4669564 3:4627877-4627880
10 ITPR1 NM_001099952.3(ITPR1):c.2952_2953insTATA (p.Val985fs)insertion Pathogenic 438828 rs1553689752 3:4722248-4722249 3:4680564-4680565
11 ITPR1 NM_002222.6(ITPR1):c.7604T>A (p.Ile2535Asn)SNV Pathogenic 522562 rs1553758021 3:4856828-4856828 3:4815144-4815144
12 ITPR1 NM_002222.6(ITPR1):c.7471G>C (p.Gly2491Arg)SNV Pathogenic 235923 rs752281590 3:4856205-4856205 3:4814521-4814521
13 ITPR1 NM_002222.6(ITPR1):c.7471G>A (p.Gly2491Arg)SNV Pathogenic/Likely pathogenic 235922 rs752281590 3:4856205-4856205 3:4814521-4814521
14 ITPR1 NM_002222.6(ITPR1):c.805C>T (p.Arg269Trp)SNV Pathogenic/Likely pathogenic 265201 rs886039392 3:4687362-4687362 3:4645678-4645678
15 PAX6 NM_000280.4(PAX6):c.1137A>C (p.Thr379=)SNV Conflicting interpretations of pathogenicity 290049 rs143477661 11:31812304-31812304 11:31790756-31790756
16 PAX6 NM_019040.5(ELP4):c.*1783T>GSNV Conflicting interpretations of pathogenicity 304292 rs140971065 11:31806855-31806855 11:31785307-31785307
17 PAX6 NM_019040.5(ELP4):c.*3092T>CSNV Conflicting interpretations of pathogenicity 304308 rs371438311 11:31808164-31808164 11:31786616-31786616
18 PAX6 NM_019040.5(ELP4):c.*5123T>ASNV Conflicting interpretations of pathogenicity 304340 rs576321279 11:31810195-31810195 11:31788647-31788647
19 PAX6 NM_000280.4(PAX6):c.-316-8C>GSNV Conflicting interpretations of pathogenicity 304365 rs566281941 11:31832571-31832571 11:31811023-31811023
20 PAX6 NM_019040.5(ELP4):c.*1714C>GSNV Conflicting interpretations of pathogenicity 304291 rs180780893 11:31806786-31806786 11:31785238-31785238
21 PAX6 NM_019040.5(ELP4):c.*4806T>ASNV Conflicting interpretations of pathogenicity 304336 rs189545730 11:31809878-31809878 11:31788330-31788330
22 PAX6 NM_000280.4(PAX6):c.711G>A (p.Val237=)SNV Conflicting interpretations of pathogenicity 304357 rs145329506 11:31815634-31815634 11:31794086-31794086
23 PAX6 NM_019040.5(ELP4):c.*2664G>ASNV Conflicting interpretations of pathogenicity 304304 rs567720234 11:31807736-31807736 11:31786188-31786188
24 PAX6 NM_019040.5(ELP4):c.*3242G>ASNV Conflicting interpretations of pathogenicity 304311 rs187705792 11:31808314-31808314 11:31786766-31786766
25 PAX6 NM_019040.5(ELP4):c.*3383C>TSNV Conflicting interpretations of pathogenicity 304312 rs541022955 11:31808455-31808455 11:31786907-31786907
26 PAX6 NM_019040.5(ELP4):c.*3528A>GSNV Conflicting interpretations of pathogenicity 304319 rs143185259 11:31808600-31808600 11:31787052-31787052
27 PAX6 NM_019040.5(ELP4):c.*3904G>ASNV Conflicting interpretations of pathogenicity 304324 rs3026397 11:31808976-31808976 11:31787428-31787428
28 PAX6 NM_000280.4(PAX6):c.-107C>TSNV Conflicting interpretations of pathogenicity 304362 rs111270711 11:31828452-31828452 11:31806904-31806904
29 PAX6 NM_019040.5(ELP4):c.*5519C>TSNV Conflicting interpretations of pathogenicity 304345 rs530259403 11:31810591-31810591 11:31789043-31789043
30 PAX6 NM_019040.5(ELP4):c.*2740G>ASNV Conflicting interpretations of pathogenicity 304307 rs149777109 11:31807812-31807812 11:31786264-31786264
31 PAX6 NM_019040.5(ELP4):c.*4251G>ASNV Conflicting interpretations of pathogenicity 304335 rs3026396 11:31809323-31809323 11:31787775-31787775
32 PAX6 NM_019040.5(ELP4):c.*5569G>ASNV Conflicting interpretations of pathogenicity 304346 rs530931929 11:31810641-31810641 11:31789093-31789093
33 PAX6 NM_000280.4(PAX6):c.831G>A (p.Gln277=)SNV Conflicting interpretations of pathogenicity 304356 rs149053004 11:31815285-31815285 11:31793737-31793737
34 PAX6 NM_000280.4(PAX6):c.547G>C (p.Gly183Arg)SNV Uncertain significance 304358 rs886048202 11:31816313-31816313 11:31794765-31794765
35 PAX6 NM_000280.4(PAX6):c.-430G>CSNV Uncertain significance 304367 rs886048207 11:31832776-31832776 11:31811228-31811228
36 PAX6 NM_019040.5(ELP4):c.*6053T>ASNV Uncertain significance 304348 rs774473337 11:31811125-31811125 11:31789577-31789577
37 PAX6 NM_019040.5(ELP4):c.*6067deldeletion Uncertain significance 304349 rs200391530 11:31811126-31811126 11:31789578-31789578
38 PAX6 NM_019040.5(ELP4):c.*6303C>GSNV Uncertain significance 304355 rs886048201 11:31811375-31811375 11:31789827-31789827
39 PAX6 NM_019040.5(ELP4):c.*2710_*2711CA[2]short repeat Uncertain significance 304306 rs886048186 11:31807781-31807782 11:31786233-31786234
40 PAX6 NM_019040.5(ELP4):c.*3978T>CSNV Uncertain significance 304326 rs886048192 11:31809050-31809050 11:31787502-31787502
41 PAX6 NM_019040.5(ELP4):c.*3504T>CSNV Uncertain significance 304315 rs886048187 11:31808576-31808576 11:31787028-31787028
42 PAX6 NM_019040.5(ELP4):c.*3523deldeletion Uncertain significance 304318 rs886048188 11:31808595-31808595 11:31787047-31787047
43 PAX6 NM_019040.5(ELP4):c.*6184A>GSNV Uncertain significance 304352 rs753595935 11:31811256-31811256 11:31789708-31789708
44 PAX6 NM_000280.4(PAX6):c.-507T>CSNV Uncertain significance 304369 rs886048209 11:31832853-31832853 11:31811305-31811305
45 PAX6 NM_019040.5(ELP4):c.*3920C>TSNV Uncertain significance 304325 rs886048191 11:31808992-31808992 11:31787444-31787444
46 PAX6 NM_000280.4(PAX6):c.-59G>TSNV Uncertain significance 304361 rs886048204 11:31828404-31828404 11:31806856-31806856
47 PAX6 NM_000280.4(PAX6):c.-147_-146dupduplication Uncertain significance 304363 rs886048205 11:31832392-31832393 11:31810844-31810845
48 PAX6 NM_000280.4(PAX6):c.-368G>ASNV Uncertain significance 304366 rs886048206 11:31832714-31832714 11:31811166-31811166
49 PAX6 NM_000280.4(PAX6):c.-501deldeletion Uncertain significance 304368 rs886048208 11:31832847-31832847 11:31811299-31811299
50 PAX6 NM_019040.5(ELP4):c.*1877A>GSNV Uncertain significance 304294 rs745626044 11:31806949-31806949 11:31785401-31785401

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

73
# 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 rs878853176

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:

(show all 32)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.58 ITPR3 ITPR2 ITPR1 GLS2 GLS
2
Show member pathways
12.28 ITPR3 ITPR2 ITPR1 GLS2 GLS
3
Show member pathways
12.26 ITPR3 ITPR2 ITPR1 AHCYL1
4
Show member pathways
12.19 ITPR3 ITPR2 ITPR1 AHCYL1
5
Show member pathways
12.06 ITPR3 ITPR2 ITPR1 AHCYL1
6 11.97 ITPR3 ITPR2 ITPR1
7 11.95 ITPR3 ITPR2 ITPR1
8
Show member pathways
11.93 ITPR3 ITPR2 ITPR1
9 11.91 ITPR3 ITPR2 ITPR1
10
Show member pathways
11.9 ITPR3 ITPR2 ITPR1
11
Show member pathways
11.89 ITPR3 ITPR2 ITPR1
12
Show member pathways
11.86 ITPR3 ITPR2 ITPR1
13 11.85 ITPR3 ITPR2 ITPR1
14 11.83 ITPR3 ITPR2 ITPR1
15
Show member pathways
11.82 ITPR3 ITPR2 ITPR1
16 11.8 ITPR3 ITPR2 ITPR1
17 11.79 ITPR3 ITPR2 ITPR1
18 11.77 ITPR3 ITPR2 ITPR1
19 11.77 ITPR3 ITPR2 ITPR1
20
Show member pathways
11.72 ITPR3 ITPR2 ITPR1
21
Show member pathways
11.7 ITPR3 ITPR2 ITPR1
22 11.68 ITPR3 ITPR2 ITPR1
23 11.51 ITPR3 ITPR2 ITPR1
24
Show member pathways
11.48 ITPR3 ITPR2 ITPR1 AHCYL1
25 11.46 ITPR3 ITPR2 ITPR1
26 11.36 ITPR3 ITPR2 ITPR1
27 11.04 ITPR3 ITPR2 ITPR1
28 11.01 GLS2 GLS
29
Show member pathways
11.01 ITPR3 ITPR2 ITPR1 AHCYL1
30
Show member pathways
10.94 ITPR3 ITPR2 ITPR1
31 10.64 PAX6 ITPR3 ITPR2 ITPR1 FOXC1
32
Show member pathways
10.28 GLS2 GLS

GO Terms for Gillespie Syndrome

Cellular components related to Gillespie Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.73 RNF170 ITPR3 ITPR2 ITPR1 ERLIN1 AHCYL1
2 secretory granule membrane GO:0030667 9.33 ITPR3 ITPR2 ITPR1
3 sarcoplasmic reticulum GO:0016529 9.13 ITPR3 ITPR2 ITPR1
4 platelet dense tubular network membrane GO:0031095 8.8 ITPR3 ITPR2 ITPR1

Biological processes related to Gillespie Syndrome according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 calcium ion transmembrane transport GO:0070588 9.71 ITPR3 ITPR2 ITPR1
2 platelet activation GO:0030168 9.69 ITPR3 ITPR2 ITPR1
3 regulation of insulin secretion GO:0050796 9.67 ITPR3 ITPR2 ITPR1
4 release of sequestered calcium ion into cytosol GO:0051209 9.54 ITPR3 ITPR2 ITPR1
5 glutamine metabolic process GO:0006541 9.52 GLS2 GLS
6 iris morphogenesis GO:0061072 9.48 PITX2 PAX6
7 positive regulation of core promoter binding GO:1904798 9.46 PAX6 FOXC1
8 camera-type eye development GO:0043010 9.46 RAX PITX2 PAX6 FOXC1
9 lacrimal gland development GO:0032808 9.43 PAX6 FOXC1
10 epithelial fluid transport GO:0042045 9.4 ITPR1 AHCYL1
11 glutamate biosynthetic process GO:0006537 9.32 GLS2 GLS
12 glutamine catabolic process GO:0006543 9.26 GLS2 GLS
13 inositol phosphate-mediated signaling GO:0048016 9.13 ITPR3 ITPR2 ITPR1
14 regulation of cardiac conduction GO:1903779 8.92 ITPR3 ITPR2 ITPR1 AHCYL1

Molecular functions related to Gillespie Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium channel activity GO:0005262 9.58 ITPR3 ITPR2 ITPR1
2 phosphatidylinositol binding GO:0035091 9.56 PITPNA ITPR3 ITPR2 ITPR1
3 calcium ion transmembrane transporter activity GO:0015085 9.37 ITPR2 ITPR1
4 inositol 1,4,5 trisphosphate binding GO:0070679 9.33 ITPR3 ITPR2 ITPR1
5 glutaminase activity GO:0004359 9.32 GLS2 GLS
6 calcium-release channel activity GO:0015278 9.13 ITPR3 ITPR2 ITPR1
7 inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity GO:0005220 8.8 ITPR3 ITPR2 ITPR1

Sources for Gillespie Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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