Details of Disease | DrugMAP

General Information of Disease (ID: DIS4QZ3S)

Disease Name	Aniridia-cerebellar ataxia-intellectual disability syndrome
Synonyms	GLSP; aniridia, cerebellar ataxia and mental deficiency; GILLESPIE syndrome; aniridia, cerebellar ataxia, and mental retardation; Aniridia Cerebellar Ataxia Mental Deficiency; aniridia, cerebellar ataxia, and intellectual disability; Gillespie syndrome
Definition	Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISXDY8A: Iridogoniodysgenesis DIS4QZ3S: Aniridia-cerebellar ataxia-intellectual disability syndrome
Disease Identifiers	MONDO ID MONDO_0008795 MESH ID C536370 UMLS CUI C0431401 OMIM ID 206700 MedGen ID 96563 Orphanet ID 1065 SNOMED CT ID 253176002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ITPR1	TT5HWAT	Limited	Genetic Variation	[1]
ITPR1	TT5HWAT	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HCCS	OTQE88BE	Strong	Genetic Variation	[3]
ITPR1	OTX7MWW1	Definitive	Autosomal dominant	[2]
PAX6	OTOC9876	Definitive	Autosomal dominant	[4]
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References

1	A C1976Y missense mutation in the mouse Ip3r1 gene leads to short-term mydriasis and unfolded protein response in the iris constrictor muscles.Exp Anim. 2020 Jan 29;69(1):45-53. doi: 10.1538/expanim.19-0007. Epub 2019 Aug 8.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
3	Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.PLoS One. 2016 Apr 28;11(4):e0153757. doi: 10.1371/journal.pone.0153757. eCollection 2016.
4	A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation. Am J Med Genet A. 2007 Aug 1;143A(15):1802-5. doi: 10.1002/ajmg.a.31808.