GLSP
MCID: GLL028
MIFTS: 54

Gillespie Syndrome (GLSP)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Gillespie Syndrome

MalaCards integrated aliases for Gillespie Syndrome:

Name: Gillespie Syndrome 57 11 19 42 58 75 73 28 12 5 14 38 71
Aniridia, Cerebellar Ataxia and Mental Deficiency 11 19 73
Glsp 57 11 73
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome 11 58
Aniridia, Cerebellar Ataxia, and Mental Retardation 57 42
Aniridia Cerebellar Ataxia Mental Deficiency 75 43
Aniridia, Cerebellar Ataxia, and Intellectual Disability 5
Aniridia-Cerebellar Ataxia-Intellectual Disability 42
Partial Aniridia-Cerebellar Ataxia-Oligophrenia 42
Aniridia-Cerebellar Ataxia-Mental Deficiency 42

Characteristics:


Inheritance:

Gillespie Syndrome: Autosomal dominant 57
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome: Autosomal dominant,Autosomal recessive 58

Prevelance:

Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
three patients with homozygous or compound heterozygous mutations have been reported (last curated june 2016)


Classifications:

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


Summaries for Gillespie Syndrome

MedlinePlus Genetics: 42 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.

MalaCards based summary: Gillespie Syndrome, also known as aniridia, cerebellar ataxia and mental deficiency, is related to aniridia 2 and aniridia 1, 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 Regulation of actin dynamics for phagocytic cup formation and Beta-2 adrenergic-dependent CFTR expression. Affiliated tissues include eye, cerebellum and kidney, and related phenotypes are intellectual disability and ataxia

OMIM®: 57 Gillespie syndrome (GLSP) 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) (Updated 08-Dec-2022)

Disease Ontology: 11 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.

GARD: 19 A rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.

Orphanet: 58 A rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.

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

Wikipedia 75 Gillespie syndrome: Gillespie syndrome, also called aniridia, cerebellar ataxia and mental deficiency, is a rare genetic... more...

Aniridia cerebellar ataxia mental deficiency: Aniridia is the absence of the iris, a muscular structure that opens and closes the pupil to allow light... more...

Related Diseases for Gillespie Syndrome

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

(show top 50) (show all 70)
# Related Disease Score Top Affiliating Genes
1 aniridia 2 31.9 PAX6 ELP4
2 aniridia 1 30.7 WT1 TRIM44 PRRG4 PITX2 PAX6 ITPR1
3 coloboma of macula 30.1 RAX PITX2 PAX6 FOXC1 ELP4
4 anterior segment dysgenesis 5 30.1 PAX6 ELP4
5 peters-plus syndrome 30.0 PITX2 PAX6 FOXC1 ELP4
6 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 29.0 WT1 TRIM44 PRRG4 PITX2 PAX6 IMMP1L
7 aniridia and absent patella 11.0
8 aceruloplasminemia 10.6
9 hypotonia 10.4
10 axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities 10.3 PITX2 FOXC1
11 ring dermoid of cornea 10.3 PITX2 FOXC1
12 otopalatodigital syndrome, type ii 10.3 PITX2 FOXC1
13 microphthalmia, syndromic 8 10.3 RAX PAX6
14 acquired color blindness 10.3 PITX2 PAX6 FOXC1
15 hydrophthalmos 10.3 PITX2 PAX6 FOXC1
16 t cell and nk cell immunodeficiency 10.3 ITPR3 ITPR1
17 anhidrosis, isolated, with normal sweat glands 10.3 ITPR3 ITPR2 ITPR1
18 axenfeld-rieger syndrome, type 3 10.3 PITX2 PAX6 FOXC1
19 axenfeld-rieger syndrome 10.3 PITX2 PAX6 FOXC1
20 isolated microphthalmia 3 10.3 RAX PAX6
21 intestinal atresia 10.3 PITX2 PAX6 FOXC1
22 primary congenital glaucoma 10.3 PITX2 PAX6 FOXC1
23 persistent hyperplastic primary vitreous 10.3 PITX2 PAX6 FOXC1
24 microphthalmia, syndromic 6 10.3 RAX PAX6
25 foveal hypoplasia 1 10.3 PAX6 ELP4
26 glaucoma 3, primary congenital, a 10.2 PITX2 PAX6 FOXC1
27 microphthalmia, isolated 2 10.2 RAX PAX6
28 lens disease 10.2 PITX2 PAX6 FOXC1
29 spastic paraplegia 82, autosomal recessive 10.2 RNF170 ERLIN1
30 corneal disease 10.2 PITX2 PAX6 FOXC1
31 spastic paraplegia 81, autosomal recessive 10.2 RNF170 ERLIN1
32 isolated aniridia 10.2 TRIM44 PAX6 FOXC1
33 glaucoma, primary open angle 10.2 PITX2 PAX6 FOXC1
34 colobomatous microphthalmia 10.2 RAX PITX2 PAX6
35 spinocerebellar ataxia 29 10.2 ITPR1 CA8 AHCYL1
36 anterior segment dysgenesis 1 10.2 PITX2 PAX6 ITPR1 FOXC1
37 spastic paraplegia 62, autosomal recessive 10.2 RNF170 ERLIN1
38 cerebellar hypoplasia 10.2
39 pax6-related aniridia 10.2
40 spastic paraplegia 80, autosomal dominant 10.2 RNF170 ERLIN1
41 intraocular pressure quantitative trait locus 10.2 PITX2 PAX6 FOXC1
42 hypertelorism 10.2 PAX6 FOXC1 ELP4
43 coloboma, ocular, autosomal dominant 10.2 PAX6 ELP4
44 sclerocornea 10.1 RAX PITX2 PAX6 FOXC1
45 dopamine beta-hydroxylase deficiency 10.1 WT1 PAX6
46 spastic paraplegia 18, autosomal recessive 10.1 RNF170 ERLIN1
47 juvenile glaucoma 10.1 PITX2 PAX6 FOXC1 ELP4
48 keratitis, hereditary 10.1 PITX2 PAX6 FOXC1 ELP4
49 immunodeficiency 10 10.1 ITPR3 ITPR1
50 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.1

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 30 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001249
2 ataxia 58 30 Very rare (1%) Very frequent (99-80%)
HP:0001251
3 global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001263
4 mask-like facies 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000298
5 aniridia 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000526
6 hypotonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001252
7 abnormality of movement 58 30 Frequent (33%) Frequent (79-30%)
HP:0100022
8 scanning speech 58 30 Frequent (33%) Frequent (79-30%)
HP:0002168
9 hearing abnormality 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000364
10 abnormality of the pulmonary artery 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004414
11 nystagmus 30 Very rare (1%) HP:0000639
12 slurred speech 30 Very rare (1%) HP:0001350
13 ventriculomegaly 30 Very rare (1%) HP:0002119
14 truncus arteriosus 30 Very rare (1%) HP:0001660
15 cerebellar atrophy 30 Very rare (1%) HP:0001272
16 generalized hypotonia 30 Very rare (1%) HP:0001290
17 postural tremor 30 Very rare (1%) HP:0002174
18 delayed ability to stand 30 Very rare (1%) HP:0025335
19 thin corpus callosum 30 Very rare (1%) HP:0033725
20 neurological speech impairment 58 Frequent (79-30%)
21 visual impairment 30 HP:0000505
22 hypoplasia of the iris 30 HP:0007676
23 cerebellar hypoplasia 30 HP:0001321

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
nystagmus
iris hypoplasia
scalloped pupillary margins of iris
visual impairment, mild to moderate

Neurologic Central Nervous System:
ataxia
slurred speech
postural tremor
delayed motor development
mental retardation, mild to severe
more

Clinical features from OMIM®:

206700 (Updated 08-Dec-2022)

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 growth/size/body region MP:0005378 10.18 DNAJC24 ERLIN1 FOXC1 GLDC ITPR1 ITPR2
2 endocrine/exocrine gland MP:0005379 9.97 AHCYL1 ERLIN1 FOXC1 ITPR1 ITPR2 ITPR3
3 muscle MP:0005369 9.95 FOXC1 ITPR1 ITPR3 PAX6 PITX2 RNF170
4 embryo MP:0005380 9.86 DNAJC24 FOXC1 GLDC ITPR1 PAX6 PITX2
5 digestive/alimentary MP:0005381 9.81 AHCYL1 ERLIN1 FOXC1 GLDC ITPR2 ITPR3
6 craniofacial MP:0005382 9.5 FOXC1 GLDC ITPR3 PAX6 PITX2 RAX
7 vision/eye MP:0005391 9.28 AHCYL1 ERLIN1 FOXC1 GLDC ITPR1 ITPR3

Drugs & Therapeutics for Gillespie Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search 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 28 ITPR1

Anatomical Context for Gillespie Syndrome

Organs/tissues related to Gillespie Syndrome:

MalaCards : Eye, Cerebellum, Kidney, Heart, Brain

Publications for Gillespie Syndrome

Articles related to Gillespie Syndrome:

(show top 50) (show all 68)
# Title Authors PMID Year
1
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome. 62 57 5
27108797 2016
2
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect. 62 57 5
27108798 2016
3
Gillespie syndrome: additional findings and parental consanguinity. 62 57 5
17558851 2007
4
Gillespie syndrome, partial aniridia, cerebellar ataxia and mental retardation in mother and daughter. 62 57 5
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. 57 5
27862915 2017
6
A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome. 62 5
29663667 2018
7
Additional features of Gillespie syndrome in two Brazilian siblings with a novel ITPR1 homozygous pathogenic variant. 62 5
29169895 2018
8
Cerebellar cognitive affective syndrome without global mental retardation in two relatives with Gillespie syndrome. 62 57
18387531 2008
9
[Gillespie syndrome: an uncommon presentation of congenital aniridia]. 62 57
17287663 2007
10
Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation. 62 57
17148041 2006
11
[Gillespie syndrome: 2 familial cases]. 62 57
16919425 2006
12
Gillespie syndrome: two further cases. 62 57
16900933 2006
13
Gillespie syndrome phenotype with a t(X;11)(p22.32;p12) de novo translocation. 62 57
9512164 1998
14
Gillespie syndrome: a report of two further cases. 62 57
9217210 1997
15
Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation). 62 57
8188215 1994
16
Syndrome of partial aniridia, cerebellar ataxia, and mental retardation--Gillespie syndrome. 62 57
2333873 1990
17
Partial aniridia, cerebellar ataxia, and mental deficiency (Gillespie syndrome) in two brothers. 62 57
3189393 1988
18
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function. 5
29925855 2018
19
Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia. 5
27062503 2017
20
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. 57
22770980 2012
21
A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation. 57
17595013 2007
22
Gillespie's syndrome (incomplete aniridia, cerebellar ataxia and oligophrenia). 57
6544390 1984
23
Ataxia with aniridia of Gillespie: a case report. 57
7192834 1981
24
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. 57
513084 1979
25
The syndrome of congenital cerebellar ataxia, aniridia and mental retardation. 57
5558750 1971
26
ANIRIDIA, CEREBELLAR ATAXIA, AND OLIGOPHRENIA IN SIBLINGS. 57
14246186 1965
27
[National protocol for diagnosis and care of congenital aniridia: Summary for the attending physician]. 62
35667788 2022
28
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders. 62
35743164 2022
29
Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants. 62
35118825 2022
30
Structure of water-soluble polysaccharides in spore of Ganoderma lucidum and their anti-inflammatory activity. 62
34717092 2022
31
Structure identification of a polysaccharide in mushroom Lingzhi spore and its immunomodulatory activity. 62
34973757 2022
32
Gillespie syndrome: An atypical form and review of the literature. 62
35070290 2022
33
Genetics and epidemiology of aniridia: Updated guidelines for genetic study. 62
34836588 2021
34
Itpr1 regulates the formation of anterior eye segment tissues derived from neural crest cells. 62
34338282 2021
35
A novel de novo intronic variant in ITPR1 causes Gillespie syndrome. 62
33949769 2021
36
Genetics and epidemiology of aniridia: Updated guidelines for genetic study. 62
34243981 2021
37
Ganoderma lucidum triterpenoids and polysaccharides attenuate atherosclerotic plaque in high-fat diet rabbits. 62
33992512 2021
38
Ganoderma lucidum Spore Polysaccharide Inhibits the Growth of Hepatocellular Carcinoma Cells by Altering Macrophage Polarity and Induction of Apoptosis. 62
33748291 2021
39
Disease-associated mutations in inositol 1,4,5-trisphosphate receptor subunits impair channel function. 62
33093175 2020
40
Extraction of triterpenoid compounds from Ganoderma Lucidum spore powder through a dual-mode sonication process. 62
32363953 2020
41
Aniridia as a clue for the diagnosis of Gillespie syndrome. 62
32609195 2020
42
Production of triterpenoid compounds from Ganoderma lucidum spore powder using ultrasound-assisted extraction. 62
31755817 2020
43
A C1976Y missense mutation in the mouse Ip3r1 gene leads to short-term mydriasis and unfolded protein response in the iris constrictor muscles. 62
31391379 2020
44
The genetic architecture of aniridia and Gillespie syndrome. 62
30242502 2019
45
[Congenital aniridia in children]. 62
30983291 2019
46
The anti-diarrhea activity of red algae-originated sulphated polysaccharides on ETEC-K88 infected mice. 62
35520502 2019
47
Synthesis and Evaluation of Herbal Chitosan from Ganoderma Lucidum Spore Powder for Biomedical Applications. 62
30279587 2018
48
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. 62
30249237 2018
49
A retrospective study of Ganoderma Lucidum Spore Powder for patients with epilepsy. 62
29879039 2018
50
Spore powder of Ganoderma lucidum for the treatment of Alzheimer disease: A pilot study. 62
29742702 2018

Variations for Gillespie Syndrome

ClinVar genetic disease variations for Gillespie Syndrome:

5 (show top 50) (show all 118)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ITPR1 NM_001378452.1(ITPR1):c.6326A>G (p.Glu2109Gly) SNV Pathogenic
235921 rs878853177 GRCh37: 3:4821268-4821268
GRCh38: 3:4779584-4779584
2 ITPR1 NM_001378452.1(ITPR1):c.2182C>T (p.Arg728Ter) SNV Pathogenic
235916 rs878853172 GRCh37: 3:4712588-4712588
GRCh38: 3:4670904-4670904
3 ITPR1 NM_001378452.1(ITPR1):c.7828AAG[1] (p.Lys2611del) MICROSAT Pathogenic
235919 rs878853175 GRCh37: 3:4856861-4856863
GRCh38: 3:4815177-4815179
4 ITPR1 NM_001378452.1(ITPR1):c.7803T>G (p.Phe2601Leu) SNV Pathogenic
235920 rs878853176 GRCh37: 3:4856838-4856838
GRCh38: 3:4815154-4815154
5 ITPR1 NM_001378452.1(ITPR1):c.6510+3A>T SNV Pathogenic
235917 rs878853173 GRCh37: 3:4824428-4824428
GRCh38: 3:4782744-4782744
6 ITPR1 NM_001378452.1(ITPR1):c.4699C>T (p.Gln1567Ter) SNV Pathogenic
235915 rs878853171 GRCh37: 3:4747892-4747892
GRCh38: 3:4706208-4706208
7 ITPR1 NM_001378452.1(ITPR1):c.6808+5G>T SNV Pathogenic
235918 rs878853174 GRCh37: 3:4829828-4829828
GRCh38: 3:4788144-4788144
8 ITPR1 NM_001378452.1(ITPR1):c.279+4_279+7del MICROSAT Pathogenic
437908 rs1553654413 GRCh37: 3:4669561-4669564
GRCh38: 3:4627877-4627880
9 ITPR1 NM_001378452.1(ITPR1):c.7793T>A (p.Ile2598Asn) SNV Pathogenic
522562 rs1553758021 GRCh37: 3:4856828-4856828
GRCh38: 3:4815144-4815144
10 ITPR1 NM_001378452.1(ITPR1):c.1252-2A>T SNV Pathogenic
617623 rs1559638068 GRCh37: 3:4703764-4703764
GRCh38: 3:4662080-4662080
11 ITPR1 NM_001378452.1(ITPR1):c.7660G>C (p.Gly2554Arg) SNV Pathogenic
235923 rs752281590 GRCh37: 3:4856205-4856205
GRCh38: 3:4814521-4814521
12 ITPR1 NM_001378452.1(ITPR1):c.2979_2980insTATA (p.Val994fs) INSERT Pathogenic
438828 rs1553689752 GRCh37: 3:4722248-4722249
GRCh38: 3:4680564-4680565
13 ITPR1 NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) SNV Pathogenic
Conflicting Interpretations Of Pathogenicity
265201 rs886039392 GRCh37: 3:4687362-4687362
GRCh38: 3:4645678-4645678
14 ITPR1 NM_001378452.1(ITPR1):c.7660G>A (p.Gly2554Arg) SNV Likely Pathogenic
235922 rs752281590 GRCh37: 3:4856205-4856205
GRCh38: 3:4814521-4814521
15 ITPR1 NM_001378452.1(ITPR1):c.5980-17G>A SNV Likely Pathogenic
977745 rs2046415471 GRCh37: 3:4816909-4816909
GRCh38: 3:4775225-4775225
16 ITPR1 NM_001378452.1(ITPR1):c.7605_7606del (p.Thr2535_Cys2536insTer) DEL Likely Pathogenic
1251958 GRCh37: 3:4856150-4856151
GRCh38: 3:4814466-4814467
17 PAX6, ELP4 NM_019040.5(ELP4):c.*2407C>A SNV Uncertain Significance
304300 rs886048184 GRCh37: 11:31807479-31807479
GRCh38: 11:31785931-31785931
18 ITPR1 NM_001378452.1(ITPR1):c.3664G>A (p.Ala1222Thr) SNV Uncertain Significance
447584 rs372881053 GRCh37: 3:4726852-4726852
GRCh38: 3:4685168-4685168
19 ITPR1 NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg) SNV Uncertain Significance
520945 rs1553757628 GRCh37: 3:4856193-4856193
GRCh38: 3:4814509-4814509
20 PAX6, ELP4 NM_019040.5(ELP4):c.*3978T>C SNV Uncertain Significance
304326 rs886048192 GRCh37: 11:31809050-31809050
GRCh38: 11:31787502-31787502
21 PAX6, ELP4 NM_019040.5(ELP4):c.*5471T>C SNV Uncertain Significance
304344 rs886048198 GRCh37: 11:31810543-31810543
GRCh38: 11:31788995-31788995
22 PAX6, ELP4 NM_019040.5(ELP4):c.*5357A>G SNV Uncertain Significance
304343 rs886048197 GRCh37: 11:31810429-31810429
GRCh38: 11:31788881-31788881
23 PAX6, ELP4 NM_019040.5(ELP4):c.*3920C>T SNV Uncertain Significance
304325 rs886048191 GRCh37: 11:31808992-31808992
GRCh38: 11:31787444-31787444
24 PAX6, ELP4 NM_019040.5(ELP4):c.*2502G>A SNV Uncertain Significance
304302 rs886048185 GRCh37: 11:31807574-31807574
GRCh38: 11:31786026-31786026
25 PAX6, ELP4 NM_019040.5(ELP4):c.*3528A>G SNV Uncertain Significance
304319 rs143185259 GRCh37: 11:31808600-31808600
GRCh38: 11:31787052-31787052
26 PAX6, ELP4 NM_019040.5(ELP4):c.*4023C>A SNV Uncertain Significance
304330 rs886048194 GRCh37: 11:31809095-31809095
GRCh38: 11:31787547-31787547
27 PAX6, ELP4 NM_019040.5(ELP4):c.*3703_*3705del DEL Uncertain Significance
304320 rs886048189 GRCh37: 11:31808775-31808777
GRCh38: 11:31787227-31787229
28 PAX6, ELP4 NM_019040.5(ELP4):c.*4017A>G SNV Uncertain Significance
304329 rs886048193 GRCh37: 11:31809089-31809089
GRCh38: 11:31787541-31787541
29 PAX6, ELP4 NM_019040.5(ELP4):c.*5016T>G SNV Uncertain Significance
304339 rs776894983 GRCh37: 11:31810088-31810088
GRCh38: 11:31788540-31788540
30 PAX6, ELP4 NM_019040.5(ELP4):c.*3523del DEL Uncertain Significance
304318 rs886048188 GRCh37: 11:31808595-31808595
GRCh38: 11:31787047-31787047
31 ITPR1 NM_001378452.1(ITPR1):c.1252-10T>A SNV Uncertain Significance
1341531 GRCh37: 3:4703756-4703756
GRCh38: 3:4662072-4662072
32 ITPR1 NM_001378452.1(ITPR1):c.2111G>C (p.Ser704Thr) SNV Uncertain Significance
804931 rs373694009 GRCh37: 3:4712517-4712517
GRCh38: 3:4670833-4670833
33 LOC106014249, PAX6 NM_001368894.2(PAX6):c.-507T>C SNV Uncertain Significance
304369 rs886048209 GRCh37: 11:31832853-31832853
GRCh38: 11:31811305-31811305
34 PAX6 NM_001368894.2(PAX6):c.-59G>T SNV Uncertain Significance
304361 rs886048204 GRCh37: 11:31828404-31828404
GRCh38: 11:31806856-31806856
35 PAX6 NM_001368894.2(PAX6):c.589G>C (p.Gly197Arg) SNV Uncertain Significance
304358 rs886048202 GRCh37: 11:31816313-31816313
GRCh38: 11:31794765-31794765
36 ELP4, PAX6 NM_001368894.2(PAX6):c.*107G>C SNV Uncertain Significance
304355 rs886048201 GRCh37: 11:31811375-31811375
GRCh38: 11:31789827-31789827
37 ELP4, PAX6 NM_001368894.2(PAX6):c.*207G>A SNV Uncertain Significance
304353 rs886048199 GRCh37: 11:31811275-31811275
GRCh38: 11:31789727-31789727
38 ELP4, PAX6 NM_001368894.2(PAX6):c.*335T>C SNV Uncertain Significance
304351 rs766518284 GRCh37: 11:31811147-31811147
GRCh38: 11:31789599-31789599
39 ELP4, PAX6 NM_001368894.2(PAX6):c.*357A>T SNV Uncertain Significance
304348 rs774473337 GRCh37: 11:31811125-31811125
GRCh38: 11:31789577-31789577
40 ELP4, PAX6 NM_001368894.2(PAX6):c.*891G>A SNV Uncertain Significance
304345 rs530259403 GRCh37: 11:31810591-31810591
GRCh38: 11:31789043-31789043
41 LOC106014249, PAX6 NM_001368894.2(PAX6):c.-430G>C SNV Uncertain Significance
304367 rs886048207 GRCh37: 11:31832776-31832776
GRCh38: 11:31811228-31811228
42 ELP4, PAX6 NM_001368894.2(PAX6):c.*226T>C SNV Uncertain Significance
304352 rs753595935 GRCh37: 11:31811256-31811256
GRCh38: 11:31789708-31789708
43 LOC106014249, PAX6 NM_001368894.2(PAX6):c.-368G>A SNV Uncertain Significance
304366 rs886048206 GRCh37: 11:31832714-31832714
GRCh38: 11:31811166-31811166
44 ITPR1 NM_001378452.1(ITPR1):c.1639G>A (p.Ala547Thr) SNV Uncertain Significance
930419 rs746128987 GRCh37: 3:4706906-4706906
GRCh38: 3:4665222-4665222
45 ITPR1 NM_001378452.1(ITPR1):c.951+6_951+8del DEL Uncertain Significance
931709 rs2093612036 GRCh37: 3:4693906-4693908
GRCh38: 3:4652222-4652224
46 ITPR1 NM_001378452.1(ITPR1):c.4249C>T (p.Arg1417Cys) SNV Uncertain Significance
988080 rs1168676216 GRCh37: 3:4735393-4735393
GRCh38: 3:4693709-4693709
47 ITPR1 NM_001378452.1(ITPR1):c.2473G>A (p.Ala825Thr) SNV Uncertain Significance
1028005 rs2094142451 GRCh37: 3:4715902-4715902
GRCh38: 3:4674218-4674218
48 ITPR1 NM_001378452.1(ITPR1):c.443G>A (p.Arg148Lys) SNV Uncertain Significance
1028006 rs2093352735 GRCh37: 3:4683853-4683853
GRCh38: 3:4642169-4642169
49 ITPR1 NM_001378452.1(ITPR1):c.5270G>C (p.Arg1757Thr) SNV Uncertain Significance
1028007 rs949938763 GRCh37: 3:4774821-4774821
GRCh38: 3:4733137-4733137
50 ITPR1 NM_001378452.1(ITPR1):c.1600C>A (p.Pro534Thr) SNV Uncertain Significance
1028566 rs2093919890 GRCh37: 3:4706867-4706867
GRCh38: 3:4665183-4665183

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 29)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.47 ITPR3 ITPR2 ITPR1 AHCYL1
2
Show member pathways
12.46 AHCYL1 ITPR1 ITPR2 ITPR3
3
Show member pathways
12.3 AHCYL1 ITPR1 ITPR2 ITPR3
4
Show member pathways
12.2 ITPR3 ITPR2 ITPR1 AHCYL1
5
Show member pathways
12.12 ITPR3 ITPR2 ITPR1
6
Show member pathways
12.09 ITPR3 ITPR2 ITPR1 AHCYL1
7
Show member pathways
12.06 ITPR3 ITPR2 ITPR1
8
Show member pathways
11.98 ITPR3 ITPR2 ITPR1
9 11.93 PITX2 PAX6 FOXC1 ELP4
10 11.92 ITPR3 ITPR2 ITPR1
11
Show member pathways
11.9 ITPR3 ITPR2 ITPR1
12
Show member pathways
11.85 ITPR3 ITPR2 ITPR1
13
Show member pathways
11.83 ITPR3 ITPR2 ITPR1
14 11.8 ITPR3 ITPR2 ITPR1
15
Show member pathways
11.77 ITPR3 ITPR2 ITPR1
16 11.71 ITPR3 ITPR2 ITPR1
17
Show member pathways
11.66 ITPR3 ITPR2 ITPR1
18
Show member pathways
11.64 ITPR3 ITPR2 ITPR1
19
Show member pathways
11.51 ITPR3 ITPR2 ITPR1 AHCYL1
20 11.38 ITPR3 ITPR2 ITPR1
21 11.28 PAX6 ITPR3 ITPR2 ITPR1 FOXC1
22 11.15 ITPR3 ITPR2 ITPR1
23 11.11 ITPR1 ITPR2 ITPR3
24
Show member pathways
11.05 ITPR3 ITPR2 ITPR1
25
Show member pathways
11.05 ITPR3 ITPR2 ITPR1 AHCYL1
26 10.94 ITPR1 CA8
27 10.88 PITX2 FOXC1
28 10.65 ITPR3 ITPR2 ITPR1 AHCYL1
29 10.25 ITPR3 ITPR2 ITPR1 AHCYL1

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 sarcoplasmic reticulum GO:0016529 9.43 ITPR3 ITPR2 ITPR1
2 platelet dense tubular network membrane GO:0031095 9.1 ITPR3 ITPR2 ITPR1

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

# Name GO ID Score Top Affiliating Genes
1 iris morphogenesis GO:0061072 9.71 PITX2 PAX6
2 epithelial fluid transport GO:0042045 9.67 ITPR1 AHCYL1
3 release of sequestered calcium ion into cytosol GO:0051209 9.63 ITPR3 ITPR2 ITPR1
4 lacrimal gland development GO:0032808 9.62 PAX6 FOXC1
5 positive regulation of core promoter binding GO:1904798 9.56 PAX6 FOXC1
6 inositol phosphate-mediated signaling GO:0048016 9.43 ITPR3 ITPR2 ITPR1
7 camera-type eye development GO:0043010 9.28 WT1 RAX PITX2 PAX6 FOXC1

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

# Name GO ID Score Top Affiliating Genes
1 inositol 1,4,5 trisphosphate binding GO:0070679 9.73 ITPR3 ITPR2 ITPR1
2 calcium ion transmembrane transporter activity GO:0015085 9.55 ITPR3 ITPR2 ITPR1
3 calcium-release channel activity GO:0015278 9.35 ITPR3 ITPR2 ITPR1
4 inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity GO:0005220 9.1 ITPR3 ITPR2 ITPR1

Sources for Gillespie Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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