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GLSP
MCID: GLL028
MIFTS: 54
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Gillespie Syndrome (GLSP)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Gillespie Syndrome:
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:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases
ICD10:
32
Orphanet: 58
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis |
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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... |
Human phenotypes related to Gillespie Syndrome:58 30 (show all 23)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)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
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Interventional clinical trials:
Cochrane evidence based reviews: aniridia cerebellar ataxia mental deficiency |
Organs/tissues related to Gillespie Syndrome:
MalaCards :
Eye,
Cerebellum,
Kidney,
Heart,
Brain
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Articles related to Gillespie Syndrome:(show top 50) (show all 68)
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Genes related to Gillespie Syndrome (2 elite genes):(show all 25) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Gillespie Syndrome:5 (show top 50) (show all 118)
UniProtKB/Swiss-Prot genetic disease variations for Gillespie Syndrome:73
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Search
GEO
for disease gene expression data for Gillespie Syndrome.
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Pathways related to Gillespie Syndrome according to GeneCards Suite gene sharing:(show all 29)
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Cellular components related to Gillespie Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Gillespie Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Gillespie Syndrome according to GeneCards Suite gene sharing:
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