Details of Disease

Disease Name

Cerebellar disorder

disorder of cerebellum; disease or disorder of cerebellum; disease of cerebellum; cerebellum disease or disorder; cerebellum disease

Definition

Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia.

Disease Hierarchy

DISWD40R: Disease

DIS6ZC3X: Brain disease

DIS2O7WM: Cerebellar disorder

Disease Identifiers

MONDO ID

MONDO_0002427

MESH ID

D002526

UMLS CUI

C0007760

MedGen ID

40186

SNOMED CT ID

223176004

General Information of Disease (ID: DIS2O7WM)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 9 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CACNA1A	TTX4QDJ	Limited	Genetic Variation	[1]
ATXN3	TT6A17J	moderate	Genetic Variation	[2]
GRM1	TTVBPDM	moderate	Genetic Variation	[3]
KCNA1	TTS3DIK	Strong	Genetic Variation	[4]
MAZ	TT059DA	Strong	Biomarker	[5]
NOS1	TTZUFI5	Strong	Biomarker	[6]
PRKCG	TTRFOXJ	Strong	Biomarker	[7]
SCN10A	TT90XZ8	Strong	Genetic Variation	[8]
ZEB2	TTT2WK4	Strong	Biomarker	[9]
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⏷ Show the Full List of 9 DTT(s)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCA8	DT9NXMV	Strong	Altered Expression	[10]
SLC17A7	DTNK0FR	Strong	Biomarker	[11]
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This Disease Is Related to 3 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PMM2	DEBRX3L	Limited	Biomarker	[12]
CYP7B1	DE36TMY	Strong	Genetic Variation	[13]
FXN	DEXVHDB	Strong	Biomarker	[14]
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This Disease Is Related to 23 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATXN7	OTL3YF1H	Limited	Genetic Variation	[15]
AFG3L2	OTRPMAUX	Strong	Genetic Variation	[16]
AHI1	OT8K2YWY	Strong	Biomarker	[17]
ANO10	OTG3BNOU	Strong	Genetic Variation	[18]
ATP1A3	OTM8EG6H	Strong	Genetic Variation	[19]
CASK	OT8EF7ZF	Strong	Biomarker	[20]
ELAVL3	OTI2VI8B	Strong	Altered Expression	[21]
GRID2	OTJ3R10R	Strong	Biomarker	[22]
HOMER3	OTQ6D9X1	Strong	Biomarker	[23]
KIF1C	OTKYLP1Q	Strong	Genetic Variation	[24]
MAD2L1BP	OT2O2IUJ	Strong	Biomarker	[25]
NDUFA4	OTDVH3QG	Strong	Genetic Variation	[26]
NOP56	OTT67SRZ	Strong	Biomarker	[27]
PDYN	OTEJ6430	Strong	Biomarker	[28]
PHF14	OTZT3GV1	Strong	Genetic Variation	[26]
PLEKHG4	OT3RBPFL	Strong	Genetic Variation	[29]
POLG2	OTDBMZJB	Strong	Biomarker	[30]
PTF1A	OT7SWA57	Strong	Biomarker	[31]
SGCE	OT9F17JB	Strong	Biomarker	[32]
SIL1	OTDI85I5	Strong	Genetic Variation	[33]
SPTBN2	OTDMJ75N	Strong	Biomarker	[34]
RPGRIP1L	OT6Z069I	Definitive	Biomarker	[35]
TINF2	OT861N2N	Definitive	Biomarker	[36]
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⏷ Show the Full List of 23 DOT(s)

References

1	A novel mutation in CACNA1A associated with hemiplegic migraine, cerebellar dysfunction and late-onset cognitive decline.J Neurol Sci. 2011 Jan 15;300(1-2):160-3. doi: 10.1016/j.jns.2010.09.032. Epub 2010 Oct 28.
2	Abnormal eyeblink conditioning is an early marker of cerebellar dysfunction in preclinical SCA3 mutation carriers.Exp Brain Res. 2019 Feb;237(2):427-433. doi: 10.1007/s00221-018-5424-y. Epub 2018 Nov 14.
3	A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset.Eur J Med Genet. 2019 Oct;62(10):103726. doi: 10.1016/j.ejmg.2019.103726. Epub 2019 Jul 15.
4	A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction.Mov Disord. 2009 Apr 15;24(5):778-82. doi: 10.1002/mds.22467.
5	The MAZ protein is an autoantigen of Hodgkin's disease and paraneoplastic cerebellar dysfunction.Ann Neurol. 2003 Jan;53(1):123-7. doi: 10.1002/ana.10434.
6	Importance of genetics in fetal alcohol effects: null mutation of the nNOS gene worsens alcohol-induced cerebellar neuronal losses and behavioral deficits.Neurotoxicology. 2015 Jan;46:60-72. doi: 10.1016/j.neuro.2014.11.009. Epub 2014 Dec 12.
7	Increased protein kinase C gamma activity induces Purkinje cell pathology in a mouse model of spinocerebellar ataxia 14.Neurobiol Dis. 2014 Oct;70:1-11. doi: 10.1016/j.nbd.2014.06.002. Epub 2014 Jun 14.
8	Channelopathy-related SCN10A gene variants predict cerebellar dysfunction in multiple sclerosis.Neurology. 2016 Feb 2;86(5):410-7. doi: 10.1212/WNL.0000000000002326. Epub 2016 Jan 6.
9	Transcriptional Regulator ZEB2 Is Essential for Bergmann Glia Development.J Neurosci. 2018 Feb 7;38(6):1575-1587. doi: 10.1523/JNEUROSCI.2674-17.2018. Epub 2018 Jan 11.
10	Increased expression of ABCA8 in multiple system atrophy brain is associated with changes in pathogenic proteins.J Parkinsons Dis. 2013 Jan 1;3(3):331-9. doi: 10.3233/JPD-130203.
11	Early VGLUT1-specific parallel fiber synaptic deficits and dysregulated cerebellar circuit in the KIKO mouse model of Friedreich ataxia.Dis Model Mech. 2017 Dec 19;10(12):1529-1538. doi: 10.1242/dmm.030049.
12	AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG).Ann Neurol. 2019 May;85(5):740-751. doi: 10.1002/ana.25457. Epub 2019 Mar 22.
13	Sensory ataxia as a prominent clinical presentation in three families with mutations in CYP7B1.J Neurol. 2014 Apr;261(4):747-51. doi: 10.1007/s00415-014-7247-5. Epub 2014 Feb 12.
14	Epigenetic cerebellar diseases.Handb Clin Neurol. 2018;155:227-244. doi: 10.1016/B978-0-444-64189-2.00015-9.
15	Spinocerebellar ataxia type 7 cerebellar disease requires the coordinated action of mutant ataxin-7 in neurons and glia, and displays non-cell-autonomous bergmann glia degeneration.J Neurosci. 2011 Nov 9;31(45):16269-78. doi: 10.1523/JNEUROSCI.4000-11.2011.
16	SCA28: Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy.Cerebellum. 2017 Feb;16(1):62-67. doi: 10.1007/s12311-016-0765-1.
17	Fine mapping of AHI1 as a schizophrenia susceptibility gene: from association to evolutionary evidence.FASEB J. 2010 Aug;24(8):3066-82. doi: 10.1096/fj.09-152611. Epub 2010 Apr 6.
18	A Postural Tremor Highly Responsive to Transcranial Cerebello-Cerebral DCS in ARCA3.Front Neurol. 2017 Mar 3;8:71. doi: 10.3389/fneur.2017.00071. eCollection 2017.
19	The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene.Pediatr Neurol. 2016 Jun;59:71-75.e1. doi: 10.1016/j.pediatrneurol.2016.02.010. Epub 2016 Mar 17.
20	Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet. 2008 Sep;40(9):1065-7. doi: 10.1038/ng.194.
21	Elavl3 regulates neuronal polarity through the alternative splicing of an embryo-specific exon in AnkyrinG.Neurosci Res. 2018 Oct;135:13-20. doi: 10.1016/j.neures.2018.03.008. Epub 2018 Mar 31.
22	Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.BMC Med Genet. 2017 Dec 6;18(1):144. doi: 10.1186/s12881-017-0504-6.
23	CNS syndromes associated with antibodies against metabotropic receptors.Curr Opin Neurol. 2017 Jun;30(3):354-360. doi: 10.1097/WCO.0000000000000448.
24	Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span.Brain Dev. 2018 Jun;40(6):458-464. doi: 10.1016/j.braindev.2018.02.013. Epub 2018 Mar 12.
25	The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25. Neurogenetics. 2018 Dec;19(4):215-225. doi: 10.1007/s10048-018-0555-7. Epub 2018 Jul 24.
26	Prenatal diagnosis and molecular characterization of a novel locus for Dandy-Walker malformation on chromosome 7p21.3.Eur J Med Genet. 2012 Aug-Sep;55(8-9):472-5. doi: 10.1016/j.ejmg.2012.04.008. Epub 2012 May 19.
27	PET and MRI detection of early and progressive neurodegeneration in spinocerebellar ataxia type 36.Mov Disord. 2017 Feb;32(2):264-273. doi: 10.1002/mds.26854. Epub 2016 Nov 10.
28	Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3.Am J Hum Genet. 1999 Aug;65(2):420-6. doi: 10.1086/302495.
29	A gene on SCA4 locus causes dominantly inherited pure cerebellar ataxia.Neurology. 2000 May 23;54(10):1971-5. doi: 10.1212/wnl.54.10.1971.
30	POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism.Ann Clin Transl Neurol. 2016 Nov 16;4(1):4-14. doi: 10.1002/acn3.361. eCollection 2017 Jan.
31	A Turkish newborn infant with cerebellar agenesis/neonatal diabetes mellitus and PTF1A mutation.Genet Couns. 2009;20(2):147-52.
32	Functional MRI study of response inhibition in myoclonus dystonia.Exp Neurol. 2013 Sep;247:623-9. doi: 10.1016/j.expneurol.2013.02.017. Epub 2013 Mar 6.
33	SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.Brain. 2013 Dec;136(Pt 12):3634-44. doi: 10.1093/brain/awt283. Epub 2013 Oct 30.
34	Cerebellar ataxias: -III spectrin's interactions suggest common pathogenic pathways.J Physiol. 2016 Aug 15;594(16):4661-76. doi: 10.1113/JP271195. Epub 2016 Apr 24.
35	The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet. 2007 Jul;39(7):875-81. doi: 10.1038/ng2039. Epub 2007 Jun 10.
36	TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. Am J Hum Genet. 2008 Feb;82(2):501-9. doi: 10.1016/j.ajhg.2007.10.004. Epub 2008 Jan 31.