Aliases & Classifications for Cerebellar Disease

MalaCards integrated aliases for Cerebellar Disease:

Name: Cerebellar Disease 12 15
Cerebellar Diseases 44 70
Cerebellar Dysfunction 54
Cerebellar Abnormality 6
Cerebellar Disorders 42

Classifications:



External Ids:

Disease Ontology 12 DOID:2786
MeSH 44 D002526
SNOMED-CT 67 267691001
UMLS 70 C0007760

Summaries for Cerebellar Disease

MedlinePlus : 42 When you play the piano or hit a tennis ball you are activating the cerebellum. The cerebellum is the area of the brain that controls coordination and balance. Problems with the cerebellum include Cancer Genetic disorders Ataxias - failure of muscle control in the arms and legs that result in movement disorders Degeneration - disorders caused by brain cells decreasing in size or wasting away Treatment of cerebellar disorders depends on the cause. In some cases, there is no cure but treatment may help with symptoms. NIH: National Institute of Neurological Disorders and Stroke

MalaCards based summary : Cerebellar Disease, also known as cerebellar diseases, is related to spinocerebellar ataxia 12 and spinocerebellar ataxia 17, and has symptoms including ataxia, dysarthria and cerebellar cognitive affective syndrome. An important gene associated with Cerebellar Disease is AFG3L2 (AFG3 Like Matrix AAA Peptidase Subunit 2), and among its related pathways/superpathways are Chks in Checkpoint Regulation and Spinocerebellar ataxia. The drugs Interferon beta-1a and Adjuvants, Immunologic have been mentioned in the context of this disorder. Affiliated tissues include cerebellum;, cerebellum and spinal cord, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Disease Ontology : 12 A brain disease that is characterized by damage to brain substance located in cerebellum; has symptom ataxia, has symptom dysarthria, and has symptom cerebellar cognitive affective syndrome.

Wikipedia : 73 The cerebellum (Latin for "little brain") is a major feature of the hindbrain of all vertebrates.... more...

Related Diseases for Cerebellar Disease

Diseases related to Cerebellar Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 326)
# Related Disease Score Top Affiliating Genes
1 spinocerebellar ataxia 12 32.2 CACNA1A ATXN7 ATXN3 ATXN2 ATXN1
2 spinocerebellar ataxia 17 32.2 CACNA1A ATXN7 ATXN3 ATXN2 ATXN1
3 spinocerebellar ataxia 15 32.1 BLOC1S1 ATXN10 ATXN1 AFG3L2
4 spinocerebellar ataxia, autosomal recessive 8 32.1 CACNA1A ATXN7 AFG3L2
5 spinocerebellar ataxia 8 32.1 ATXN7 ATXN2 ATXN10 ATXN1
6 spinocerebellar ataxia 38 31.9 CALB1 CACNA1A
7 spinocerebellar ataxia 31 31.9 CACNA1A ATXN10
8 spinocerebellar ataxia, autosomal recessive 14 31.7 CACNA1A AFG3L2
9 dystonia 31.0 CP CASK CACNA1A ATXN7 ATXN3 ATXN1
10 autosomal dominant cerebellar ataxia 30.9 MIR9-1 H2AC18 FXN ERCC6 CALB1 CACNA1A
11 episodic ataxia 30.8 CACNA1A ATXN7 ATXN1 AFG3L2
12 friedreich ataxia 30.7 FXN CACNA1A ATXN3 ATXN2 ATXN10 ATXN1
13 huntington disease 30.6 MIR9-1 CALB1 ATXN7 ATXN3 ATXN1
14 spinocerebellar ataxia 10 30.6 FXN CACNA1A ATXN7 ATXN3 ATXN2 ATXN10
15 spinocerebellar ataxia 1 30.6 MIR9-1 FXN CALB1 CACNA1A BLOC1S1 ATXN7
16 speech disorder 30.5 H2AC18 GAD1 CALB1
17 hereditary ataxia 30.5 H2AC18 FXN CACNA1A ATXN7 ATXN3 ATXN2
18 episodic ataxia, type 2 30.4 CACNA1A ATXN7 ATXN1
19 inherited metabolic disorder 30.4 MIR9-1 H2AC18 CP BLOC1S1
20 peripheral nervous system disease 30.4 MIR9-1 H2AC18 FXN ERCC6 BLOC1S1
21 movement disease 30.4 MIR9-1 H2AC18 GAD1 ERCC6 CP CACNA1A
22 fragile x syndrome 30.4 MIR9-1 H2AC18 GAD1 FXN ERCC6 ATXN10
23 hereditary spastic paraplegia 30.4 GAD1 EXOSC3 ATXN3 ATXN2 AFG3L2
24 spinocerebellar ataxia 7 30.4 MIR9-1 H2AC18 ATXN7 ATXN3 ATXN2 ATXN1
25 spinocerebellar ataxia 2 30.4 CACNA1A ATXN7 ATXN3 ATXN2
26 spinocerebellar ataxia 6 30.4 FXN CACNA1A ATXN7 ATXN3 ATXN2 ATXN10
27 machado-joseph disease 30.4 H2AC18 ERCC6 CACNA1A ATXN7 ATXN3 ATXN2
28 kearns-sayre syndrome 30.4 FXN CACNA1A ATXN7 AFG3L2
29 spastic ataxia 30.4 FXN CACNA1A AFG3L2
30 olivopontocerebellar atrophy 30.3 CACNA1A ATXN7 ATXN2
31 pontocerebellar hypoplasia 30.3 RNU4ATAC H2AC18 EXOSC3 CASK
32 telangiectasis 30.3 H2AC18 ERCC6 ATM
33 internuclear ophthalmoplegia 30.3 ERCC6 CACNA1A
34 leukodystrophy, demyelinating, adult-onset, autosomal dominant 11.1
35 cerebellar ataxia, cayman type 11.1
36 polyglucosan body neuropathy, adult form 11.0
37 medulloblastoma 10.9
38 cowden syndrome 1 10.9
39 leukodystrophy, hypomyelinating, 5 10.9
40 spinocerebellar ataxia 13 10.9
41 spinocerebellar ataxia 34 10.8
42 spinocerebellar ataxia, autosomal recessive 2 10.8
43 mannosidosis, alpha b, lysosomal 10.8
44 spinocerebellar ataxia, x-linked 1 10.8
45 spinocerebellar ataxia 5 10.8
46 spinocerebellar ataxia 11 10.8
47 spinocerebellar ataxia 14 10.8
48 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 10.8
49 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 10.8
50 spinocerebellar ataxia, autosomal recessive 4 10.8

Graphical network of the top 20 diseases related to Cerebellar Disease:



Diseases related to Cerebellar Disease

Symptoms & Phenotypes for Cerebellar Disease

Symptoms:

12
  • ataxia
  • dysarthria
  • cerebellar cognitive affective syndrome

UMLS symptoms related to Cerebellar Disease:


seizures; ataxia; tremor; back pain; dysdiadochokinesis; headache; syncope; pain; chronic pain; sciatica; vertigo/dizziness; sleeplessness; cerebellar ataxia; cerebellar ataxia/dyskinesia; adiadochokinesis

GenomeRNAi Phenotypes related to Cerebellar Disease according to GeneCards Suite gene sharing:

26 (show all 36)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.95 CALB1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.95 ATM ATXN3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.95 ATM
4 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.95 CASK
5 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.95 ATM
6 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.95 ATM
7 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.95 ATXN3
8 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.95 CALB1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-134 9.95 CALB1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.95 ATM FXN
11 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.95 ATXN3 CASK
12 Increased shRNA abundance (Z-score > 2) GR00366-A-144 9.95 CP
13 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.95 ATM
14 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.95 ATM
15 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.95 ATM
16 Increased shRNA abundance (Z-score > 2) GR00366-A-160 9.95 ATM
17 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.95 CP
18 Increased shRNA abundance (Z-score > 2) GR00366-A-18 9.95 ATXN3
19 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.95 FXN
20 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.95 ATXN3
21 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.95 FXN
22 Increased shRNA abundance (Z-score > 2) GR00366-A-204 9.95 FXN
23 Increased shRNA abundance (Z-score > 2) GR00366-A-209 9.95 ATXN3 CP
24 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.95 CALB1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-216 9.95 CALB1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-24 9.95 ATXN3
27 Increased shRNA abundance (Z-score > 2) GR00366-A-41 9.95 ATM
28 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.95 FXN
29 Increased shRNA abundance (Z-score > 2) GR00366-A-48 9.95 ATXN3
30 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.95 CASK
31 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.95 ATM
32 Increased shRNA abundance (Z-score > 2) GR00366-A-72 9.95 CASK
33 Increased shRNA abundance (Z-score > 2) GR00366-A-77 9.95 CALB1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.95 ATM
35 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.95 ATM CALB1 CASK FXN
36 Increased ionizing radiation sensitivity GR00232-A-1 9.35 ATM ATXN10 ATXN2 ATXN3 GAD1

MGI Mouse Phenotypes related to Cerebellar Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 AFG3L2 ATM ATXN1 ATXN2 ATXN3 ATXN7
2 mortality/aging MP:0010768 9.8 AFG3L2 ATM ATXN1 ATXN10 ATXN2 ATXN7
3 nervous system MP:0003631 9.47 AFG3L2 ATM ATXN1 ATXN2 ATXN3 ATXN7

Drugs & Therapeutics for Cerebellar Disease

Drugs for Cerebellar Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Interferon beta-1a Approved, Investigational Phase 4 145258-61-3 6438354
2 Adjuvants, Immunologic Phase 4
3 Immunologic Factors Phase 4
4 Interferon-beta Phase 4
5 interferons Phase 4
6 Anti-Infective Agents Phase 4
7 Antiviral Agents Phase 4
8
Ethanol Approved 64-17-5 702

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Controlled High-risk Avonex Multiple Sclerosis Prevention Study in Ongoing Neurologic Surveillance (CHAMPIONS10) Completed NCT00179478 Phase 4 interferon beta 1a 30 ug IM once weekly
2 Episodic Ataxia Syndrome: Genotype-phenotype Correlation and Longitudinal Study Unknown status NCT00266760
3 Disorders of Emotional Communication in Patient With Cerebellar Dysfunction Completed NCT02106819
4 Can Stimulation of Frontal Cortical Regions Facilitate Performance on Tests of Procedural Implicit Learning and Analogical Reasoning? Completed NCT00001776
5 Effects of Aerobic Exercise on Degenerative Cerebellar Disease Completed NCT03745248
6 Vestibular Rehabilitation for Chronic Central Vestibular Deficits Due to Cerebellar Dysfunction Completed NCT03952936
7 Verticality Perception and Gaze Holding in Healthy Human Subjects and Patients With Acute and Chronic Cerebellar Disorders Completed NCT02185313
8 Assessment of the Prevalence and Mutational Spectrum of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome and Cerebello-oculo-renal Syndromes Completed NCT00873678
9 A Visuomotor Rotation Task as a Biomarker of Cerebellar Dysfunction in Chronic Cannabis Use Recruiting NCT03662737
10 Coupling Between Adaptation of Saccadic Eye Movements and Visuo-spatial Perception and Attention Processes: a Behavioural Study in Humans. Recruiting NCT03112408
11 Effects of Aerobic Exercise Verse Balance Training on Degenerative Cerebellar Disease Using MRI and Gait Analysis Active, not recruiting NCT03701776
12 Ataxia in Essential Tremor: Describing the Differences Between Disease Process and Treatment Effect (ATAX) Terminated NCT03769961
13 Suppression and Facilitation of the Motor Cortex by Stimulation of the Cerebellum in Patients With Dystonia and Healthy Controls Terminated NCT00487383

Search NIH Clinical Center for Cerebellar Disease

Cochrane evidence based reviews: cerebellar diseases

Genetic Tests for Cerebellar Disease

Anatomical Context for Cerebellar Disease

The Foundational Model of Anatomy Ontology organs/tissues related to Cerebellar Disease:

19
Cerebellum;

MalaCards organs/tissues related to Cerebellar Disease:

40
Cerebellum, Spinal Cord, Eye, Brain, Cortex, Bone Marrow, Thalamus

Publications for Cerebellar Disease

Articles related to Cerebellar Disease:

(show top 50) (show all 516)
# Title Authors PMID Year
1
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy. 6
32219868 2020
2
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
3
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia. 42
33257696 2020
4
De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy. 42
32822602 2020
5
A Drosophila model of Pontocerebellar Hypoplasia reveals a critical role for the RNA exosome in neurons. 42
32645003 2020
6
Internuclear ophthalmoparesis in episodic ataxia type 2. 54 61
15827025 2005
7
Phase I Single-Blinded Randomized Controlled Trial Comparing Balance and Aerobic Training in Degenerative Cerebellar Disease. 61
32383352 2021
8
Resection of cerebellar tumours causes widespread and functionally relevant white matter impairments. 61
33410575 2021
9
A narrative review on non-invasive stimulation of the cerebellum in neurological diseases. 61
33759055 2021
10
The cerebellar cognitive affective syndrome scale reveals early neuropsychological deficits in SCA3 patients. 61
33743045 2021
11
The neurobiological underpinning of the social cognition impairments in patients with spinocerebellar ataxia type 2. 61
33677324 2021
12
Compensatory postural responses to backward loss of balance in patients with cerebellar disease. 61
33662808 2021
13
Purkinje cell (PC) antibody positivity in a patient with autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy. 61
33287611 2020
14
Alexithymia is a non motor symptom of essential tremor regardless of the presence of depression and anxiety. 61
32657241 2020
15
Investigating the Clinical Significance and Research Discrepancies of Balance Training in Degenerative Cerebellar Disease: A Systematic Review. 61
32467491 2020
16
Pathogenic mechanisms underlying spinocerebellar ataxia type 1. 61
32306062 2020
17
3 Hz postural tremor: A specific and sensitive sign of cerebellar dysfunction in patients with cerebellar ataxia. 61
32828037 2020
18
Real-life gait assessment in degenerative cerebellar ataxia: Toward ecologically valid biomarkers. 61
32611635 2020
19
[Differential Diagnosis of Idiopathic Cerebellar Ataxia]. 61
32934186 2020
20
Measurements of Hand Function in Degenerative Cerebellar Disease: A Case-Control Pilot Study. 61
32167956 2020
21
Cerebellar Cognitive Affective Syndrome in Costa da Morte Ataxia (SCA36). 61
32270466 2020
22
Effect of Sertoli Cell Transplantation on Reducing Neuroinflammation-Induced Necroptosis and Improving Motor Coordination in the Rat Model of Cerebellar Ataxia Induced by 3-Acetylpyridine. 61
32166479 2020
23
Phase I randomized single-blinded controlled study investigating the potential benefit of aerobic exercise in degenerative cerebellar disease. 61
32037861 2020
24
Spiral drawing: Quantitative analysis and artificial-intelligence-based diagnosis using a smartphone. 61
32050132 2020
25
Mapping the vestibular cerebellar evoked potential (VsCEP) following air- and bone-conducted vestibular stimulation. 61
32006077 2020
26
Extinction of cognitive associations is preserved in patients with cerebellar disease. 61
32061996 2020
27
The role of the cerebellum in degenerative ataxias and essential tremor: Insights from noninvasive modulation of cerebellar activity. 61
31820832 2020
28
Consensus Paper. Cerebellar Reserve: From Cerebellar Physiology to Cerebellar Disorders. 61
31879843 2020
29
Prevalence and Characteristics of Physiological Gaze-Evoked and Rebound Nystagmus: Implications for Testing Their Pathological Counterparts. 61
33192976 2020
30
Virtual Reality Social Prediction Improvement and Rehabilitation Intensive Training (VR-SPIRIT) for paediatric patients with congenital cerebellar diseases: study protocol of a randomised controlled trial. 61
31937355 2020
31
Elevated blood pressure in high-fat diet-exposed low birthweight rat offspring is most likely caused by elevated glucocorticoid levels due to abnormal pituitary negative feedback. 61
32853260 2020
32
Validation of a German version of the Cerebellar Cognitive Affective/ Schmahmann Syndrome Scale: preliminary version and study protocol. 61
33324939 2020
33
Recent Advances in the Treatment of Cerebellar Disorders. 61
31878024 2019
34
Deafness and Vestibulopathy in Cerebellar Diseases: a Practical Approach. 61
31154624 2019
35
Profile of the unfolded protein response in rat cerebellar cortical development. 61
31132146 2019
36
Transferrin receptor binds virus capsid with dynamic motion. 61
31548398 2019
37
Cerebellar Syndrome Associated with Thyroid Disorders. 61
31388971 2019
38
Embryonic Cerebellar Graft Morphology Differs in Two Mouse Models of Cerebellar Degeneration. 61
31418135 2019
39
No effects of cerebellar transcranial direct current stimulation on force field and visuomotor reach adaptation in young and healthy subjects. 61
30943093 2019
40
Vertigo in Cerebellar Disease-Do the Eyes Have It or Is There More to Perceive? 61
30539355 2019
41
Speech treatment improves dysarthria in multisystemic ataxia: a rater-blinded, controlled pilot-study in ARSACS. 61
30840144 2019
42
Modeling Neurodegenerative Spinocerebellar Ataxia Type 13 in Zebrafish Using a Purkinje Neuron Specific Tunable Coexpression System. 61
30862666 2019
43
Extinction and Renewal of Conditioned Eyeblink Responses in Focal Cerebellar Disease. 61
30155831 2019
44
Can patients with cerebellar disease switch learning mechanisms to reduce their adaptation deficits? 61
30689760 2019
45
Depression disorder in patients with cerebellar damage: Awareness of the mood state. 61
30423466 2019
46
Intersegmental coordination patterns are differently affected in Parkinson's disease and cerebellar ataxia. 61
30461364 2019
47
Neurological Disease Modelling for Spinocerebellar Ataxia Using Zebrafish. 61
31666796 2019
48
Slow saccades in cerebellar disease. 61
30680221 2019
49
Aminopyridines and Acetyl-DL-leucine: New Therapies in Cerebellar Disorders. 61
30182858 2019
50
Anti-Oxidant Drugs: Novelties and Clinical Implications in Cerebellar Ataxias. 61
29119930 2019

Variations for Cerebellar Disease

ClinVar genetic disease variations for Cerebellar Disease:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AFG3L2 NM_006796.3(AFG3L2):c.1064C>T SNV Pathogenic 385335 rs1057522195 GRCh37: 18:12356793-12356793
GRCh38: 18:12356794-12356794
2 AFG3L2 NM_006796.3(AFG3L2):c.1901_1902del (p.Val633_Ser634insTer) Microsatellite Pathogenic 973111 GRCh37: 18:12340278-12340279
GRCh38: 18:12340279-12340280
3 EXOSC3 NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala) SNV Pathogenic 31691 rs387907196 GRCh37: 9:37784950-37784950
GRCh38: 9:37784953-37784953
4 CASK Deletion Likely pathogenic 812932 GRCh37: X:41458916-41537987
GRCh38:

Expression for Cerebellar Disease

Search GEO for disease gene expression data for Cerebellar Disease.

Pathways for Cerebellar Disease

Pathways related to Cerebellar Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.11 ERCC6 ATXN7 ATXN3 ATXN2 ATXN10 ATXN1
2 11.26 CACNA1A ATXN3 ATXN2 ATXN10 ATXN1 AFG3L2

GO Terms for Cerebellar Disease

Cellular components related to Cerebellar Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.83 ZIC1 MIR9-1 GAD1 FXN EXOSC3 CASK
2 nucleolus GO:0005730 9.8 EXOSC3 ERCC6 CASK ATXN7 ATXN3 ATXN1
3 nuclear inclusion body GO:0042405 9.16 ATXN3 ATXN1
4 nuclear matrix GO:0016363 8.92 CASK ATXN7 ATXN3 ATXN1

Biological processes related to Cerebellar Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.02 ZIC1 ERCC6 ATXN3 ATXN10 ATXN1
2 regulation of presynaptic cytosolic calcium ion concentration GO:0099509 8.96 CALB1 CACNA1A

Molecular functions related to Cerebellar Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein N-terminus binding GO:0047485 9.13 GAD1 ERCC6 ATM
2 ferroxidase activity GO:0004322 8.62 FXN CP

Sources for Cerebellar Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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