MCID: STR001
MIFTS: 38

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 43 15 71 32

Classifications:



External Ids:

Disease Ontology 12 DOID:4751
MeSH 43 D020955
NCIt 49 C125695
SNOMED-CT 67 29618004
ICD10 32 G23.2
UMLS 71 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, childhood-onset and striatonigral degeneration, infantile. An important gene associated with Striatonigral Degeneration is VAC14 (VAC14 Component Of PIKFYVE Complex), and among its related pathways/superpathways are Circadian entrainment and Neuroscience. Affiliated tissues include brain, cerebellum and eye, and related phenotypes are behavior/neurological and nervous system

Wikipedia : 74 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 114)
# Related Disease Score Top Affiliating Genes
1 striatonigral degeneration, childhood-onset 34.8 VAC14-AS1 VAC14
2 striatonigral degeneration, infantile 34.8 NUP62 MT-ATP6 IL4I1
3 familial infantile bilateral striatal necrosis 33.3 NUP62 MT-ATP6
4 pure autonomic failure 30.3 TH SNCA
5 multiple system atrophy 1 29.9 TH SNCA SLC6A3 MBP MAP2 DRD2
6 dementia, lewy body 29.5 TH SNCA SLC6A3
7 supranuclear palsy, progressive, 1 29.4 TH SNCA SLC6A3 DRD2 ATP2B3
8 dystonia 29.3 VAC14 TH SLC6A3 DRD2 DRD1
9 olivopontocerebellar atrophy 28.8 TH SNCA SLC6A3 MBP MAP2 ATP2B3
10 aceruloplasminemia 28.3 TH SNCA SLC6A3 MT-ATP6 COQ2 ATP2B3
11 huntington disease 28.2 TH SNCA SLC6A3 PPP1R1B DRD2 DRD1
12 parkinson disease, late-onset 27.5 TH SNCA SLC6A3 MBP MAP2 DRD2
13 striatonigral degeneration, infantile, mitochondrial 12.5
14 sporadic infantile bilateral striatal necrosis 11.8
15 multiple system atrophy, parkinsonian type 11.1
16 tremor 10.3
17 early-onset schizophrenia 10.3 DRD2 DRD1
18 idiopathic corneal edema 10.3 DRD2 DRD1
19 periodic limb movement disorder 10.3 DRD2 DRD1
20 oculogyric crisis 10.2 DRD2 DRD1
21 lingual-facial-buccal dyskinesia 10.2 DRD2 DRD1
22 chronic tic disorder 10.2 DRD2 DRD1
23 alzheimer disease 10.2
24 amyotrophic lateral sclerosis 1 10.2
25 neuroleptic malignant syndrome 10.2
26 lateral sclerosis 10.2
27 dysautonomia 10.2
28 dysphagia 10.2
29 spasticity 10.2
30 posttransplant acute limbic encephalitis 10.2
31 brain injury 10.2 MBP DRD2
32 schizophreniform disorder 10.1 DRD2 DRD1
33 opioid abuse 10.1 DRD2 DRD1
34 chiari malformation 10.1 MBP MAP2
35 avoidant personality disorder 10.1 SLC6A3 DRD2
36 traumatic brain injury 10.1 MBP DRD2
37 machado-joseph disease 10.0
38 pick disease of brain 10.0
39 yunis-varon syndrome 10.0
40 adrenoleukodystrophy 10.0
41 ataxia and polyneuropathy, adult-onset 10.0
42 aphasia 10.0
43 apraxia 10.0
44 neurogenic bladder 10.0
45 motor neuron disease 10.0
46 cerebellar disease 10.0
47 agnosia 10.0
48 48,xyyy 10.0
49 adrenomyeloneuropathy 10.0
50 cerebellar degeneration 10.0

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.65 DRD1 DRD2 MAP2 MBP NUP62 PPP1R1B
2 nervous system MP:0003631 9.28 DRD1 DRD2 MAP2 MBP PPP1R1B SLC6A3

Drugs & Therapeutics for Striatonigral Degeneration

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase II, Randomised, Placebo-Controlled, Double-Blind, Replicated Crossover, Pilot Study on the Effect of Fipamezole on Neurogenic Orthostatic Hypotension in Patients With Multiple System Atrophy or Parkinson's Disease Unknown status NCT00758849 Phase 2 Placebo;Fipamezole

Search 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
Brain, Cerebellum, Eye, Spinal Cord, Skin, Globus Pallidus, Subthalamic Nucleus

Publications for Striatonigral Degeneration

Articles related to Striatonigral Degeneration:

(show top 50) (show all 258)
# Title Authors PMID Year
1
Alpha-synuclein binding to rab3a in multiple system atrophy. 54 61
15854772 2005
2
Combination of dopamine transporter and D2 receptor SPECT in the diagnostic evaluation of PD, MSA, and PSP. 54 61
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. 54 61
8832750 1996
5
Immunohistochemical expression of microtubule-associated protein 5 (MAP5) in glial cells in multiple system atrophy. 54 61
1517758 1992
6
Novel VAC14 variants identified in two Chinese siblings with childhood-onset striatonigral degeneration. 61
31876398 2020
7
White matter DNA methylation profiling reveals deregulation of HIP1, LMAN2, MOBP, and other loci in multiple system atrophy. 61
31535203 2020
8
MSA: From basic mechanisms to experimental therapeutics. 61
32005598 2020
9
Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing. 61
31870437 2019
10
Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders. 61
31591492 2019
11
VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation. 61
31387860 2019
12
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
13
L-dopa response pattern in a rat model of mild striatonigral degeneration. 61
31181111 2019
14
Patterns of dopamine transporter imaging in subtypes of multiple system atrophy. 61
29573392 2018
15
Immunohistochemical and Molecular Investigations Show Alteration in the Inflammatory Profile of Multiple System Atrophy Brain. 61
29850876 2018
16
Multiple system atrophy: Building a global community - 30years of advocacy efforts. 61
29269241 2018
17
Recent advances in neuropathology, biomarkers and therapeutic approach of multiple system atrophy. 61
28860330 2018
18
Multiple System Atrophy: An Oligodendroglioneural Synucleinopathy1. 61
28984582 2018
19
Progressive striatonigral degeneration in a transgenic mouse model of multiple system atrophy: translational implications for interventional therapies. 61
29298733 2018
20
Potential clinical utility of multiple system atrophy biomarkers. 61
29023182 2017
21
Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14. 61
29296614 2017
22
Perirhinal accumulation of neuronal alpha-synuclein in a multiple system atrophy patient with dementia. 61
28419566 2017
23
Multiple system atrophy: clinicopathological characteristics in Japanese patients. 61
28496050 2017
24
Early Motor Fluctuations in a Patient with Striatonigral Degeneration. 61
28101035 2016
25
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
26
Coenzyme Q10 Levels Are Decreased in the Cerebellum of Multiple-System Atrophy Patients. 61
26894433 2016
27
Failure of Neuroprotection Despite Microglial Suppression by Delayed-Start Myeloperoxidase Inhibition in a Model of Advanced Multiple System Atrophy: Clinical Implications. 61
26194617 2015
28
Neuropathology of multiple system atrophy: new thoughts about pathogenesis. 61
25297524 2014
29
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
30
Neuropathologic changes of multiple system atrophy and diffuse Lewy body disease. 61
24963680 2014
31
An update on the cerebellar subtype of multiple system atrophy. 61
26331038 2014
32
Myeloperoxidase inhibition ameliorates multiple system atrophy-like degeneration in a transgenic mouse model. 61
22161470 2012
33
Evaluation of a multiple system atrophy model in rats using multitracer microPET. 61
21866326 2012
34
Increased neuronal α-synuclein pathology associates with its accumulation in oligodendrocytes in mice modeling α-synucleinopathies. 61
23077527 2012
35
Pregnancy in multiple system atrophy: a case report. 61
22208291 2011
36
[Multiple system atrophy - synuclein and neuronal degeneration]. 61
22277386 2011
37
Metabolic activity of the subthalamic nucleus in a primate model of L-dopa-unresponsive parkinsonism. 61
20810027 2010
38
Neurodegeneration in a transgenic mouse model of multiple system atrophy is associated with altered expression of oligodendroglial-derived neurotrophic factors. 61
20445049 2010
39
[Mechanism of neuronal degeneration of multiple system atrophy]. 61
19803404 2009
40
Intrastriatal injection of colchicine induces striatonigral degeneration in mice. 61
18564367 2008
41
Multiple system atrophy: alpha-synuclein and neuronal degeneration. 61
18018485 2007
42
Clinical-radiological correlation. Report of two cases. 61
17665026 2007
43
Cellular pathology in multiple system atrophy. 61
16961071 2006
44
Evidence for dopaminergic re-innervation by embryonic allografts in an optimized rat model of the Parkinsonian variant of multiple system atrophy. 61
16325004 2005
45
[Animal models of parkinsonism]. 61
16365620 2005
46
Grading of neuropathology in multiple system atrophy: proposal for a novel scale. 61
16092088 2005
47
In vivo models of multiple system atrophy. 61
16092092 2005
48
Riluzole improves motor deficits and attenuates loss of striatal neurons in a sequential double lesion rat model of striatonigral degeneration (parkinson variant of multiple system atrophy). 61
15583958 2005
49
Alpha-synuclein transgenic mice: relevance to multiple system atrophy. 61
16092093 2005
50
Effects of riluzole on combined MPTP + 3-nitropropionic acid-induced mild to moderate striatonigral degeneration in mice. 61
15503195 2005

Variations for Striatonigral Degeneration

Expression for Striatonigral Degeneration

Search GEO for disease gene expression data for Striatonigral Degeneration.

Pathways for Striatonigral Degeneration

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 cell GO:0005623 9.85 TH SNCA NUP62 DRD2 DRD1 ATP2B3
2 dendrite GO:0030425 9.76 TH MAP2 DRD2 DRD1
3 axon GO:0030424 9.73 TH SNCA SLC6A3 DRD2
4 glutamatergic synapse GO:0098978 9.71 PPP1R1B DRD2 DRD1 ATP2B3
5 GABA-ergic synapse GO:0098982 9.43 DRD2 DRD1 ATP2B3
6 integral component of presynaptic membrane GO:0099056 9.33 SLC6A3 DRD2 DRD1
7 dopaminergic synapse GO:0098691 9.32 SLC6A3 DRD2
8 integral component of postsynaptic membrane GO:0099055 9.13 SLC6A3 DRD2 DRD1
9 neuronal cell body GO:0043025 9.1 TH SNCA SLC6A3 PPP1R1B MBP MAP2

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.88 TH SNCA SLC6A3 DRD2 DRD1
2 response to ethanol GO:0045471 9.8 TH SLC6A3 DRD2
3 memory GO:0007613 9.77 TH PPP1R1B DRD1
4 visual learning GO:0008542 9.67 PPP1R1B DRD2 DRD1
5 response to nicotine GO:0035094 9.67 TH SLC6A3 PPP1R1B DRD2
6 positive regulation of release of sequestered calcium ion into cytosol GO:0051281 9.66 SNCA DRD1
7 response to light stimulus GO:0009416 9.65 TH DRD2
8 adenylate cyclase-activating adrenergic receptor signaling pathway GO:0071880 9.65 DRD2 DRD1
9 regulation of long-term neuronal synaptic plasticity GO:0048169 9.65 SNCA DRD2
10 locomotory behavior GO:0007626 9.65 TH SLC6A3 PPP1R1B DRD2 DRD1
11 temperature homeostasis GO:0001659 9.64 DRD2 DRD1
12 dopamine receptor signaling pathway GO:0007212 9.64 DRD2 DRD1
13 response to iron ion GO:0010039 9.63 SLC6A3 DRD2
14 prepulse inhibition GO:0060134 9.63 SLC6A3 DRD2 DRD1
15 phospholipase C-activating dopamine receptor signaling pathway GO:0060158 9.62 DRD2 DRD1
16 neurotransmitter biosynthetic process GO:0042136 9.62 TH SLC6A3
17 response to amphetamine GO:0001975 9.62 TH PPP1R1B DRD2 DRD1
18 grooming behavior GO:0007625 9.61 DRD2 DRD1
19 negative regulation of microtubule polymerization GO:0031115 9.61 SNCA MAP2
20 dopamine metabolic process GO:0042417 9.61 SNCA DRD2 DRD1
21 striatum development GO:0021756 9.6 DRD2 DRD1
22 regulation of dopamine metabolic process GO:0042053 9.58 SLC6A3 DRD1
23 peristalsis GO:0030432 9.58 DRD2 DRD1
24 dopamine biosynthetic process GO:0042416 9.58 TH SNCA SLC6A3
25 adenohypophysis development GO:0021984 9.57 SLC6A3 DRD2
26 mating behavior GO:0007617 9.56 TH DRD1
27 cerebral cortex GABAergic interneuron migration GO:0021853 9.55 DRD2 DRD1
28 dopamine transport GO:0015872 9.54 SLC6A3 DRD1
29 regulation of dopamine uptake involved in synaptic transmission GO:0051584 9.52 DRD2 DRD1
30 dopamine uptake involved in synaptic transmission GO:0051583 9.51 SNCA SLC6A3
31 behavioral response to cocaine GO:0048148 9.46 SNCA PPP1R1B DRD2 DRD1
32 synaptic transmission, dopaminergic GO:0001963 9.26 TH SNCA DRD2 DRD1
33 response to cocaine GO:0042220 9.02 SNCA SLC6A3 PPP1R1B DRD2 DRD1

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

# Name GO ID Score Top Affiliating Genes
1 ferrous iron binding GO:0008198 9.26 TH SNCA
2 adrenergic receptor activity GO:0004935 9.16 DRD2 DRD1
3 dopamine neurotransmitter receptor activity GO:0004952 8.96 DRD2 DRD1
4 dopamine binding GO:0035240 8.92 TH SLC6A3 DRD2 DRD1

Sources for Striatonigral Degeneration

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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