MCID: STR001
MIFTS: 37

Striatonigral Degeneration

Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Striatonigral Degeneration

MalaCards integrated aliases for Striatonigral Degeneration:

Name: Striatonigral Degeneration 12 53 54 44 15 70 32

Classifications:



External Ids:

Disease Ontology 12 DOID:4751
MeSH 44 D020955
NCIt 50 C125695
SNOMED-CT 67 29618004
ICD10 32 G23.2
UMLS 70 C0270733

Summaries for Striatonigral Degeneration

NINDS : 53 Striatonigral degeneration is a neurological disorder caused by a disruption in the connection between two areas of the brain-the striatum and the substantia nigra. These two areas work together to enable balance and movement. Striatonigral degeneration is a type of multiple system atrophy (MSA). Symptoms of the disorder resemble some of those seen in Parkinson's disease, including rigidity, instability, impaired speech, and slow movements.

MalaCards based summary : Striatonigral Degeneration is related to striatonigral degeneration, infantile and striatonigral degeneration, childhood-onset. An important gene associated with Striatonigral Degeneration is VAC14 (VAC14 Component Of PIKFYVE Complex), and among its related pathways/superpathways are Prion disease and Neuroscience. Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are behavior/neurological and growth/size/body region

Wikipedia : 73 Multiple system atrophy (MSA) is a rare neurodegenerative disorder characterized by autonomic... more...

Related Diseases for Striatonigral Degeneration

Diseases in the Striatonigral Degeneration family:

Striatonigral Degeneration, Infantile

Diseases related to Striatonigral Degeneration via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 93)
# Related Disease Score Top Affiliating Genes
1 striatonigral degeneration, infantile 33.0 NUP62 MT-ATP6 IL4I1
2 striatonigral degeneration, childhood-onset 32.9 VAC14-AS1 VAC14
3 familial infantile bilateral striatal necrosis 32.3 NUP62 MT-ATP6
4 multiple system atrophy 1 31.1 TPPP SNCA SLC6A3 MAP2 DRD2 COQ2
5 olivopontocerebellar atrophy 30.8 SNCA SLC6A3 MAP2
6 supranuclear palsy, progressive, 1 30.7 SNCA SLC6A3 DRD2
7 tremor 30.2 SNCA MT-ATP6 FIG4
8 dystonia 30.0 VAC14 SLC6A3 PLP1 DRD2 DRD1
9 dementia, lewy body 29.6 TPPP SNCA SLC6A3 COQ2
10 yunis-varon syndrome 29.6 VAC14 PIKFYVE FIG4
11 huntington disease 29.4 SNCA PPP1R1B MAP2 DRD2 DRD1
12 parkinson disease, late-onset 29.2 SNCA SLC6A3 PPP1R1B MAP2 DRD2 DRD1
13 amyotrophic lateral sclerosis 1 28.9 SNCA SLC6A3 PIKFYVE MT-ATP6 MAP2 FIG4
14 striatonigral degeneration, infantile, mitochondrial 11.4
15 sporadic infantile bilateral striatal necrosis 11.2
16 parkinsonism 10.7
17 multiple system atrophy, parkinsonian type 10.6
18 early-onset schizophrenia 10.3 DRD2 DRD1
19 pure autonomic failure 10.3
20 parkinson disease 4, autosomal dominant 10.2 SNCA SLC6A3
21 akinetic mutism 10.2 SNCA SLC6A3
22 postencephalitic parkinson disease 10.2 SNCA SLC6A3
23 drug psychosis 10.2 SLC6A3 DRD2
24 torsion dystonia 4 10.2 PLP1 MT-ATP6
25 drug-induced mental disorder 10.2 SLC6A3 DRD2
26 substance-induced psychosis 10.2 SLC6A3 DRD2
27 coenzyme q10 deficiency, primary, 1 10.1 SNCA COQ2
28 delusional disorder 10.1 SLC6A3 DRD2
29 neuroleptic malignant syndrome 10.1
30 lateral sclerosis 10.1
31 dysautonomia 10.1
32 dysphagia 10.1
33 spasticity 10.1
34 posttransplant acute limbic encephalitis 10.1
35 bestiality 10.1 SLC6A3 DRD2 DRD1
36 schizophreniform disorder 10.1 SLC6A3 DRD2
37 impulse control disorder 10.1 SLC6A3 DRD2 DRD1
38 pathological gambling 10.1 SLC6A3 DRD2 DRD1
39 oppositional defiant disorder 10.1 SLC6A3 DRD2 DRD1
40 heroin dependence 10.1 SLC6A3 DRD2 DRD1
41 opioid abuse 10.1 SLC6A3 DRD2
42 tic disorder 10.1 SLC6A3 DRD2 DRD1
43 opiate dependence 10.1 SLC6A3 DRD2 DRD1
44 cocaine dependence 10.1 SLC6A3 DRD2 DRD1
45 toxic encephalopathy 10.0 SNCA SLC6A3 MAP2
46 drug dependence 10.0 SLC6A3 DRD2 DRD1
47 substance abuse 10.0 SLC6A3 PLP1 DRD2
48 parkinson disease 1, autosomal dominant 10.0 SNCA MAP2
49 alcohol use disorder 10.0 SLC6A3 DRD2 DRD1
50 gilles de la tourette syndrome 10.0 SLC6A3 DRD2 DRD1

Graphical network of the top 20 diseases related to Striatonigral Degeneration:



Diseases related to Striatonigral Degeneration

Symptoms & Phenotypes for Striatonigral Degeneration

MGI Mouse Phenotypes related to Striatonigral Degeneration:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 CNP DRD1 DRD2 FIG4 IL4I1 MAP2
2 growth/size/body region MP:0005378 10.1 CNP DRD1 DRD2 FIG4 MAP2 NUP62
3 mortality/aging MP:0010768 10.07 CNP COQ2 DRD1 DRD2 FIG4 IL4I1
4 nervous system MP:0003631 9.73 CNP DRD1 DRD2 FIG4 MAP2 PIKFYVE
5 muscle MP:0005369 9.7 CNP DRD1 DRD2 FIG4 PIKFYVE PLP1
6 skeleton MP:0005390 9.28 CNP COQ2 DRD2 FIG4 NUP62 PLP1

Drugs & Therapeutics for Striatonigral Degeneration

Search Clinical Trials , NIH Clinical Center for Striatonigral Degeneration

Cochrane evidence based reviews: striatonigral degeneration

Genetic Tests for Striatonigral Degeneration

Anatomical Context for Striatonigral Degeneration

MalaCards organs/tissues related to Striatonigral Degeneration:

40
Eye, Cerebellum, Spinal Cord, Globus Pallidus, Subthalamic Nucleus, Caudate Nucleus, Brain

Publications for Striatonigral Degeneration

Articles related to Striatonigral Degeneration:

(show top 50) (show all 260)
# Title Authors PMID Year
1
Alpha-synuclein binding to rab3a in multiple system atrophy. 61 54
15854772 2005
2
Combination of dopamine transporter and D2 receptor SPECT in the diagnostic evaluation of PD, MSA, and PSP. 61 54
11921116 2002
3
Loss of dopamine uptake sites and dopamine D2 receptors in striatonigral degeneration. 54 61
10661519 2000
4
Ubiquitin-positive inclusions in different types of multiple system atrophy: distribution and specificity. 61 54
8832750 1996
5
Immunohistochemical expression of microtubule-associated protein 5 (MAP5) in glial cells in multiple system atrophy. 54 61
1517758 1992
6
Expanding the spectrum of VAC14 related pediatric-onset neurological disease; striatonigral degeneration with brainstem involvement. 61
33248288 2021
7
MSA: From basic mechanisms to experimental therapeutics. 61
32005598 2020
8
Genes to treat excitotoxicity ameliorate the symptoms of the disease in mice models of multiple system atrophy. 61
32065333 2020
9
Novel VAC14 variants identified in two Chinese siblings with childhood-onset striatonigral degeneration. 61
31876398 2020
10
White matter DNA methylation profiling reveals deregulation of HIP1, LMAN2, MOBP, and other loci in multiple system atrophy. 61
31535203 2020
11
Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing. 61
31870437 2019
12
Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders. 61
31591492 2019
13
VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation. 61
31387860 2019
14
Multiple System Atrophy With Predominant Striatonigral Degeneration and TAR DNA-Binding Protein of 43 kDa Pathology: An Unusual Variant of Multiple System Atrophy. 61
31745474 2019
15
L-dopa response pattern in a rat model of mild striatonigral degeneration. 61
31181111 2019
16
Patterns of dopamine transporter imaging in subtypes of multiple system atrophy. 61
29573392 2018
17
Immunohistochemical and Molecular Investigations Show Alteration in the Inflammatory Profile of Multiple System Atrophy Brain. 61
29850876 2018
18
Multiple system atrophy: Building a global community - 30years of advocacy efforts. 61
29269241 2018
19
Recent advances in neuropathology, biomarkers and therapeutic approach of multiple system atrophy. 61
28860330 2018
20
Progressive striatonigral degeneration in a transgenic mouse model of multiple system atrophy: translational implications for interventional therapies. 61
29298733 2018
21
Multiple System Atrophy: An Oligodendroglioneural Synucleinopathy1. 61
28984582 2018
22
Potential clinical utility of multiple system atrophy biomarkers. 61
29023182 2017
23
Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14. 61
29296614 2017
24
Perirhinal accumulation of neuronal alpha-synuclein in a multiple system atrophy patient with dementia. 61
28419566 2017
25
Multiple system atrophy: clinicopathological characteristics in Japanese patients. 61
28496050 2017
26
Early Motor Fluctuations in a Patient with Striatonigral Degeneration. 61
28101035 2016
27
Importance of (123)I-ioflupane SPECT and Myocardial MIBG Scintigraphy to Determine the Candidate of Deep Brain Stimulation for Parkinson's Disease. 61
26794041 2016
28
Coenzyme Q10 Levels Are Decreased in the Cerebellum of Multiple-System Atrophy Patients. 61
26894433 2016
29
Failure of Neuroprotection Despite Microglial Suppression by Delayed-Start Myeloperoxidase Inhibition in a Model of Advanced Multiple System Atrophy: Clinical Implications. 61
26194617 2015
30
Neuropathology of multiple system atrophy: new thoughts about pathogenesis. 61
25297524 2014
31
A rat model of striatonigral degeneration generated by simultaneous injection of 6-hydroxydopamine into the medial forebrain bundle and quinolinic acid into the striatum. 61
25408589 2014
32
Neuropathologic changes of multiple system atrophy and diffuse Lewy body disease. 61
24963680 2014
33
An update on the cerebellar subtype of multiple system atrophy. 61
26331038 2014
34
Myeloperoxidase inhibition ameliorates multiple system atrophy-like degeneration in a transgenic mouse model. 61
22161470 2012
35
Evaluation of a multiple system atrophy model in rats using multitracer microPET. 61
21866326 2012
36
Increased neuronal α-synuclein pathology associates with its accumulation in oligodendrocytes in mice modeling α-synucleinopathies. 61
23077527 2012
37
Pregnancy in multiple system atrophy: a case report. 61
22208291 2011
38
[Multiple system atrophy - synuclein and neuronal degeneration]. 61
22277386 2011
39
Metabolic activity of the subthalamic nucleus in a primate model of L-dopa-unresponsive parkinsonism. 61
20810027 2010
40
Neurodegeneration in a transgenic mouse model of multiple system atrophy is associated with altered expression of oligodendroglial-derived neurotrophic factors. 61
20445049 2010
41
[Mechanism of neuronal degeneration of multiple system atrophy]. 61
19803404 2009
42
Intrastriatal injection of colchicine induces striatonigral degeneration in mice. 61
18564367 2008
43
Multiple system atrophy: alpha-synuclein and neuronal degeneration. 61
18018485 2007
44
Clinical-radiological correlation. Report of two cases. 61
17665026 2007
45
Cellular pathology in multiple system atrophy. 61
16961071 2006
46
Evidence for dopaminergic re-innervation by embryonic allografts in an optimized rat model of the Parkinsonian variant of multiple system atrophy. 61
16325004 2005
47
[Animal models of parkinsonism]. 61
16365620 2005
48
Grading of neuropathology in multiple system atrophy: proposal for a novel scale. 61
16092088 2005
49
Alpha-synuclein transgenic mice: relevance to multiple system atrophy. 61
16092093 2005
50
In vivo models of multiple system atrophy. 61
16092092 2005

Variations for Striatonigral Degeneration

Expression for Striatonigral Degeneration

Search GEO for disease gene expression data for Striatonigral Degeneration.

Pathways for Striatonigral Degeneration

Pathways related to Striatonigral Degeneration according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.37 SNCA SLC6A3 MT-ATP6 DRD2 DRD1
2 12.16 SNCA PPP1R1B MAP2 CNP
3
Show member pathways
11.53 SLC6A3 PPP1R1B DRD2 DRD1
4
Show member pathways
10.49 SLC6A3 DRD2 DRD1
5 9.7 TPPP PLP1 CNP

GO Terms for Striatonigral Degeneration

Cellular components related to Striatonigral Degeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.56 SNCA SLC6A3 PPP1R1B MAP2
2 late endosome membrane GO:0031902 9.33 VAC14 PIKFYVE FIG4
3 synapse GO:0045202 9.1 TPPP SNCA PLP1 DRD2 DRD1 CNP
4 dopaminergic synapse GO:0098691 8.96 SLC6A3 DRD2

Biological processes related to Striatonigral Degeneration according to GeneCards Suite gene sharing:

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.9 SNCA SLC6A3 DRD2 DRD1
2 aging GO:0007568 9.81 SNCA SLC6A3 MT-ATP6 CNP
3 phosphatidylinositol biosynthetic process GO:0006661 9.75 VAC14 PIKFYVE FIG4
4 locomotory behavior GO:0007626 9.71 SLC6A3 PPP1R1B FIG4 DRD2
5 dopamine receptor signaling pathway GO:0007212 9.63 DRD2 DRD1
6 visual learning GO:0008542 9.63 PPP1R1B DRD2 DRD1
7 adenylate cyclase-activating adrenergic receptor signaling pathway GO:0071880 9.62 DRD2 DRD1
8 regulation of long-term neuronal synaptic plasticity GO:0048169 9.62 SNCA DRD2
9 response to iron ion GO:0010039 9.61 SLC6A3 DRD2
10 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.61 PIKFYVE FIG4
11 response to nicotine GO:0035094 9.61 SLC6A3 PPP1R1B DRD2
12 negative regulation of microtubule polymerization GO:0031115 9.59 SNCA MAP2
13 dopamine biosynthetic process GO:0042416 9.58 SNCA SLC6A3
14 regulation of reactive oxygen species biosynthetic process GO:1903426 9.57 SNCA PIKFYVE
15 phospholipase C-activating dopamine receptor signaling pathway GO:0060158 9.56 DRD2 DRD1
16 adenohypophysis development GO:0021984 9.55 SLC6A3 DRD2
17 hyaloid vascular plexus regression GO:1990384 9.54 SLC6A3 DRD2
18 dopamine metabolic process GO:0042417 9.54 SNCA DRD2 DRD1
19 cerebral cortex GABAergic interneuron migration GO:0021853 9.52 DRD2 DRD1
20 behavioral response to cocaine GO:0048148 9.5 SNCA PPP1R1B DRD2
21 regulation of dopamine uptake involved in synaptic transmission GO:0051584 9.49 DRD2 DRD1
22 dopamine uptake involved in synaptic transmission GO:0051583 9.48 SNCA SLC6A3
23 prepulse inhibition GO:0060134 9.43 SLC6A3 DRD2 DRD1
24 synaptic transmission, dopaminergic GO:0001963 9.33 SNCA DRD2 DRD1
25 myelin assembly GO:0032288 9.13 TPPP PIKFYVE FIG4
26 response to cocaine GO:0042220 8.92 SNCA SLC6A3 PPP1R1B DRD2

Molecular functions related to Striatonigral Degeneration according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dopamine neurotransmitter receptor activity GO:0004952 9.16 DRD2 DRD1
2 phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity GO:0043813 8.96 PIKFYVE FIG4
3 dopamine binding GO:0035240 8.8 SLC6A3 DRD2 DRD1

Sources for Striatonigral Degeneration

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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