MCID: SPS008
MIFTS: 24

Spastic Ataxia malady

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

Aliases & Classifications for Spastic Ataxia

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Aliases & Descriptions for Spastic Ataxia:

Name: Spastic Ataxia 10 47 12 65

Classifications:



External Ids:

Disease Ontology10 DOID:0050952
UMLS65 C1849156

Summaries for Spastic Ataxia

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MalaCards based summary: Spastic Ataxia is related to ataxia, spastic, 5, autosomal recessive and spastic ataxia, charlevoix-saguenay type. An important gene associated with Spastic Ataxia is SACS (Sacsin Molecular Chaperone). Affiliated tissues include brain, lung and t cells.

Related Diseases for Spastic Ataxia

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Diseases in the Spastic Ataxia family:

Spastic Ataxia 3, Autosomal Recessive Ataxia, Spastic, 4
Spastic Ataxia 1, Autosomal Dominant Spastic Ataxia 2, Autosomal Recessive
Ataxia, Spastic, 5, Autosomal Recessive Spastic Ataxia 1
Spastic Ataxia 2 Spastic Ataxia 3
Spastic Ataxia 5 Spastic Ataxia 7

Diseases related to Spastic Ataxia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 75)
idRelated DiseaseScoreTop Affiliating Genes
1ataxia, spastic, 5, autosomal recessive32.2AFG3L2, SPG7
2spastic ataxia, charlevoix-saguenay type12.6
3spastic ataxia 1, autosomal dominant12.5
4spastic ataxia 3, autosomal recessive12.5
5spastic ataxia-corneal dystrophy syndrome12.5
6spastic ataxia 2, autosomal recessive12.4
7spastic ataxia 312.4
8early-onset spastic ataxia-neuropathy syndrome12.3
9spastic ataxia 112.3
10spastic ataxia 212.2
11spastic ataxia 512.2
12spastic ataxia 712.2
13spastic ataxia with congenital miosis12.2
14spasticity-ataxia-gait anomalies syndrome12.2
15ataxia, spastic, 412.1
16arsacs11.8
17dementia, familial british11.5
18mousa al din al nassar syndrome11.4
19leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism10.4
20cerebroretinal microangiopathy with calcifications and cysts10.4
21multiple sclerosis, disease progression, modifier of10.2
22multiple sclerosis 310.2
23multiple sclerosis 510.2
24immunodeficiency due to purine nucleoside phosphorylase deficiency10.2
25glucose transporter type 1 deficiency syndrome10.2
26renal cell carcinoma10.2
27pancreatitis10.2
28prostate cancer10.1
29pancreatic cancer10.1
30prostatitis10.1
31peritonitis10.1
32malaria9.9
33breast cancer9.9
34coronary artery disease9.9
35tay-sachs disease9.9
36nasopharyngeal carcinoma9.9
37wiskott-aldrich syndrome9.9
38hepatitis9.9
39mannosidosis9.9
40artery disease9.9
41oral squamous cell carcinoma9.9
42nasopharyngitis9.9
43mesenteric lymphadenitis9.9
44listeriosis9.9
45arachnoiditis9.9
46diarrhea9.9
47facial paralysis9.9
48lymphadenitis9.9
49neuroendocrine tumor9.9
50hepatitis c9.9

Graphical network of the top 20 diseases related to Spastic Ataxia:



Diseases related to spastic ataxia

Symptoms for Spastic Ataxia

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Drugs & Therapeutics for Spastic Ataxia

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Drugs for Spastic Ataxia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DeferiproneapprovedPhase 45330652-11-02972
Synonyms:
1,2-Dimethyl-3-hydroxypyrid-4-one
3-Hydroxy-1,2-dimethyl-4(1H)-pyridone
APO-066
CP-20
DN-180-01-AF
Deferipron
 
Deferiprona
Deferiproni
Deferipronum
Deferypron
Dimethylhydroxypyridone
Défériprone
Ferriprox
PL-1
2
IronapprovedPhase 410217439-89-623925
Synonyms:
02583_FLUKA
12310_ALDRICH
12310_RIEDEL
129048-51-7
14067-02-8
161135-39-3
190454-13-8
195161-83-2
199281-22-6
209309_ALDRICH
209309_SIAL
255637_ALDRICH
266213_ALDRICH
266256_ALDRICH
267945_ALDRICH
267953_ALDRICH
26Fe
338141_ALDRICH
356808_ALDRICH
356824_ALDRICH
356832_ALDRICH
39344-71-3
3ZhP
413054_ALDRICH
443783-52-6
44890_ALDRICH
44890_FLUKA
675141-17-0
70884-35-4
73135-38-3
7439-89-6
8011-79-8
8053-60-9
AC1L2N38
ATW 230
ATW 432
Ancor B
Ancor en 80/150
Armco iron
Atomel 28
Atomel 300M200
Atomel 500M
Atomel 95
Atomiron 44MR
Atomiron 5M
Atomiron AFP 25
Atomiron AFP 5
C00023
C3518_SIAL
C3518_SIGMA
CCRIS 1580
CHEBI:18248
CID23925
Carbonyl iron
Copy Powder CS 105-175
D007501
DB01592
DSP 1000
DSP 128B
DSP 135
DSP 135C
DSP 138
Dexiron
Diseases (animal), iron overload
Diseases, iron overload
EF 1000
EF 250
EFV 200/300
EFV 250
EFV 250/400
EINECS 231-096-4
Ed-In-Sol
 
Eisen
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feraheme
Feronate
Ferretts
Ferrlecit
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
GS 6
HF 2 (element)
HL (iron)
HQ (metal)
HS (iron)
HS 4849
HSDB 604
Hemocyte
Hierro
Hoeganaes ATW 230
Hoeganaes EH
IRMM524A_FLUKA
IRMM524B_FLUKA
IRON
Infufer
Iron
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Venofer
Vitedyn-Slo
Yieronia
fer
ferrous ascorbate
ferrous fumarate
ferrous gluconate
ferrous glycine sulfate
ferrous iron
ferrous succinate
ferrous sulfate
hierro
3Chelating AgentsPhase 4667
4Iron Chelating AgentsPhase 4178
5
BaclofenapprovedPhase 1911134-47-02284
Synonyms:
( inverted question mark)-Baclofen
(+-)-Baclofen
(+/-)- beta-(Aminoethyl)-4- chlorobenzenepropanoic acid
(+/-)-BACLOFEN
(+/-)-beta-(Aminomethyl)-4-chlorobenzenepropanoic acid
(?)-Baclofen
1134-47-0
4-Amino-3-(4-chlorophenyl)butanoic acid
4-Amino-3-(4-chlorophenyl)butyric acid
62594-36-9
AB00051921
AC-4530
AC1L1DC6
ASTA Medica Brand of Baclofen
AWD, Baclofen
Alphapharm Brand of Baclofen
Apo Baclofen
Apo-Baclofen
ApoBaclofen
Apotex Brand of Baclofen
Ashbourne Brand of Baclofen
Athena Brand of Baclofen
Atrofen
B 5399
B3343
B5399_SIGMA
BPBio1_000012
BPBio1_000750
BRD-A84174873-001-05-2
BRN 2104494
BSPBio_000010
BSPBio_001880
Ba 34647
Ba-34,647
Ba-34647
Ba34,647
Ba34647
Baclofen
Baclofen (JP15/USP/INN)
Baclofen (R,S)
Baclofen AWD
Baclofen Alphapharm Brand
Baclofen Apotex Brand
Baclofen Ashbourne Brand
Baclofen Athena Brand
Baclofen Ciba-Geigy Brand
Baclofen Irex Brand
Baclofen Isis Brand
Baclofen Medtronic Brand
Baclofen Novartis Brand
Baclofen Nu-Pharm Brand
Baclofen Pharmascience Brand
Baclofen [USAN:INN:BAN:JAN]
Baclofene
Baclofene Irex
Baclofene [INN-French]
Baclofene-Irex
BaclofeneIrex
Baclofeno
Baclofeno [INN-Spanish]
Baclofenum
Baclofenum [INN-Latin]
Baclon
Baclophen
Baclospas
Benzenepropanoic acid, beta-(aminomethyl)-4-chloro-(9CI)
Biomol-NT_000251
C 34647Ba
C10H12ClNO2
CCRIS 3722
CHEBI:2972
CHEMBL701
CIBA-34,647-BA
CIBA34,647BA
CID2284
Chlorophenyl GABA
Ciba 34,647-Ba
Ciba Geigy Brand of Baclofen
Ciba-Geigy Brand of Baclofen
Clofen
D001418
D00241
DB00181
DL-4-Amino-3-P-chlorophenylbutanoic acid
DL-4-Amino-3-p-chlorophenylbutanoic acid
DL-Baclofen
 
DivK1c_000001
EINECS 214-486-9
EU-0100163
GABA, Chlorophenyl
Gabalon
Gablofen
Gen Baclofen
Gen-Baclofen
GenBaclofen
Genpharm
HMS1568A12
HMS1920E21
HMS2091M03
HMS500A03
I01-1934
IDI1_000001
Irex Brand of Baclofen
Isis Brand of Baclofen
KBio1_000001
KBio2_000466
KBio2_003034
KBio2_005602
KBio3_001380
KBioGR_000650
KBioSS_000466
Kemstro
Kemstro (TN)
L000002
LS-77134
Lebic
Lioresal
Lioresal (TN)
Lioresal Intrathecal
Lopac0_000163
MLS000028480
Medtronic Brand of Baclofen
MolPort-002-051-370
NCGC00015156-05
NCGC00015156-12
NCGC00023843-03
NCGC00024579-03
NCGC00024579-04
NCGC00024579-05
NCGC00024579-06
NINDS_000001
NSC329137
Novartis Brand of Baclofen
Nu Baclo
Nu Pharm Brand of Baclofen
Nu-Baclo
Nu-Baclofen
Nu-Pharm Brand of Baclofen
NuBaclo
Oprea1_440627
PCP-GABA
PMS Baclofen
PMSBaclofen
Pharmascience Brand of Baclofen
Pms-Baclofen
Prestwick0_000085
Prestwick1_000085
Prestwick2_000085
Prestwick3_000085
Prestwick_85
SMP1_000036
SMR000058294
SPBio_000044
SPBio_001949
SPECTRUM1500135
STK535284
STOCK2S-30552
Spectrum2_000092
Spectrum3_000310
Spectrum4_000245
Spectrum5_000852
Spectrum_000066
UNII-H789N3FKE8
UPCMLD-DP142
UPCMLD-DP142:001
baclofen
beta-(4-Chlorophenyl)gaba
beta-(Aminomethyl)-4-chlorobenzenepropanoic acid
beta-(Aminomethyl)-P-chlorohydrocinnamic acid
beta-(Aminomethyl)-p-chlorohydrocinnamic acid
beta-(P-Chlorophenyl)-gamma-aminobutyric acid
beta-(p-Chlorophenyl)-gamma-aminobutyric acid
gamma-Amino-beta-(P-chlorophenyl)butyric acid
gamma-Amino-beta-(p-chlorophenyl)butyric acid

Interventional clinical trials:

idNameStatusNCT IDPhase
1Observational Study of Deferiprone (Ferriprox®) in the Treatment of Superficial SiderosisActive, not recruitingNCT01284127Phase 4
2Improving Hand Use in Multiple SclerosisActive, not recruitingNCT01081275Phase 2
3Oral and IV Baclofen in Adult VolunteersCompletedNCT01749319Phase 1
4SPATAX: Clinical and Genetic Analysis of Cerebellar Ataxias and Spastic ParaplegiasRecruitingNCT00140829Phase 1
5Natural History, Genetic Bases and Phenotype-genotype Correlations in Autosomal Dominant Spinocerebellar DegenerationsActive, not recruitingNCT00136630Phase 1
6Cohorts and Collections: Clinical and Genetic Study of Parkinson's Disease and EpilepsiesTerminatedNCT00142363Phase 1
7Phenotypic and Genotypic Studies in Congenital and Early Onset AtaxiasCompletedNCT01488461
8Genetics of Mendelian Forms of Young Onset Alzheimer DiseaseActive, not recruitingNCT01622894

Search NIH Clinical Center for Spastic Ataxia

Genetic Tests for Spastic Ataxia

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Anatomical Context for Spastic Ataxia

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MalaCards organs/tissues related to Spastic Ataxia:

33
Brain, Lung, T cells, Endothelial, Cardiac myocytes, Pituitary, Myeloid

Animal Models for Spastic Ataxia or affiliated genes

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Publications for Spastic Ataxia

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Articles related to Spastic Ataxia:

(show top 50)    (show all 58)
idTitleAuthorsYear
1
Decreased apparent diffusion coefficient in the pituitary and correlation with hypopituitarism in patients with traumatic brain injury. (25679273)
2015
2
Changes in Corneal Biomechanical Properties After Descemet Stripping Automated Endothelial Keratoplasty for Pseudophakic Bullous Keratopathy. (26555584)
2015
3
Dysgeusia following ventral intermediate nucleus deep brain stimulation for essential tremor. (25224964)
2014
4
Prediction and control of brucellosis transmission of dairy cattle in zhejiang province, china. (25386963)
2014
5
Global adiposity and thickness of intraperitoneal and mesenteric adipose tissue depots are increased in women with polycystic ovary syndrome (PCOS). (23386652)
2013
6
Serdemetan antagonizes the Mdm2-HIF1I+ axis leading to decreased levels of glycolytic enzymes. (24040331)
2013
7
CRM1 plays a nuclear role in transporting snoRNPs to nucleoli in higher eukaryotes. (22555597)
2012
8
Characterization of functional and structural integrity in experimental focal epilepsy: reduced network efficiency coincides with white matter changes. (22808026)
2012
9
Choices in surgical treatment of diverticulitis. (23160497)
2012
10
Coordinated roles of ST3Gal-VI and ST3Gal-IV sialyltransferases in the synthesis of selectin ligands. (22700726)
2012
11
Antisense oligonucleotide targeting matrix metalloproteinase-7 (MMP-7) changes the ultrastructure of human A549 lung adenocarcinoma cells. (21981819)
2011
12
Recurrent meningitis with Mondini dysplasia after the operation and vaccination. (20500457)
2010
13
Temporal responses to intrinsically coupled calcium and zinc dyshomeostasis in cardiac myocytes and mitochondria during aldosteronism. (19915175)
2010
14
Efficacy of everolimus (RAD001) in patients with advanced NSCLC previously treated with chemotherapy alone or with chemotherapy and EGFR inhibitors. (19549709)
2009
15
Proton pump inhibitors after endoscopic hemostasis in patients with peptic ulcer bleeding. (20380111)
2009
16
Chronic lymphocytic leukemia With t(2;14)(p16;q32) involves the BCL11A and IgH genes and is associated with atypical morphologic features and unmutated IgVH genes. (19369625)
2009
17
Increased aquaglyceroporin 9 expression disrupts arsenic resistance in human lung cancer cells. (19100828)
2009
18
Phenotypic and functional characterisation of porcine CD4(+)CD25(high) regulatory T cells. (17868905)
2008
19
A ligand peptide motif selected from a cancer patient is a receptor-interacting site within human interleukin-11. (18941632)
2008
20
Special circumstances: trophic feeds, necrotizing enterocolitis and bronchopulmonary dysplasia. (17189719)
2007
21
A genetic variant in cytoskeleton motors amplifies susceptibility to leukoaraiosis in hypertensive smokers: gene-environmental interactions behind vascular white matter demyelinization. (17917076)
2007
22
Mannose-binding lectin gene polymorphism, vulvovaginal candidiasis, and bacterial vaginosis. (17470593)
2007
23
Cavernous hemangioma of the optic disk. (17460599)
2007
24
Atrioventricular septal defect: from fetus to adult. (17105897)
2006
25
Pathologic change of elastic fibers with difference of microvessel density and expression of angiogenesis-related proteins in internal hemorrhoid tissues]. (16149003)
2005
26
Creation of a large-scale genetic data bank for cardiovascular association studies. (16169331)
2005
27
CPEC induces erythroid differentiation of human myeloid leukemia K562 cells through CTP depletion and p38 MAP kinase. (15385935)
2004
28
Functional effects of tau gene mutations deltaN296 and N296H. (11906000)
2002
29
STAT3-mediated constitutive expression of SOCS-3 in cutaneous T-cell lymphoma. (11159537)
2001
30
Cytochrome P450 (CYP) mutants and substrate-specificity alterations: segment-directed mutagenesis applied to human CYP1A1. (11356140)
2001
31
GD3 ganglioside directly targets mitochondria in a bcl-2-controlled fashion. (11023989)
2000
32
Activation of phosphatidylinositol 3-kinase in response to interleukin-1 leads to phosphorylation and activation of the NF-kappaB p65/RelA subunit. (10373529)
1999
33
The frequency of illegitimate TCRbeta/gamma gene recombination in human lymphocytes: influence of age, environmental exposure and cytostatic treatment, and correlation with frequencies of t(14;18) and hprt mutation. (10521679)
1999
34
Influence of MUC18/MCAM/CD146 expression on human melanoma growth and metastasis in SCID mice. (10362144)
1999
35
In vivo evaluation of serotonergic agents and alpha-adrenergic blockers on premature ejaculation by inhibiting the seminal vesicle pressure response to electrical nerve stimulation. (9722759)
1998
36
Risk factors for primary pulmonary coccidioidomycosis hospitalizations among United States Navy and Marine Corps personnel, 1981-1994. (9546408)
1998
37
Oxidative inactivation of thioredoxin as a cellular growth factor and protection by a Cys73-->Ser mutation. (8986137)
1996
38
Cytokine modulation of interleukin 1 and tumour necrosis factor-alpha secretion from acute myelogenous leukaemia blast cells in vitro. (7530789)
1995
39
The immunolocalization of the ribosomal gene transcription initiation factor UBF in the interphase and mitosis]. (7571017)
1995
40
Low levels of high-density lipoprotein cholesterol (hypoalphalipoproteinemia). An approach to management. (8323418)
1993
41
Plasma protein C as a marker of hepatocellular damage in alcoholic liver disease. (1362178)
1992
42
Comparison of acid ethanol extraction and acid gel filtration prior to IGF-I and IGF-II radioimmunoassays: improvement of determinations in acid ethanol extracts by the use of truncated IGF-I as radioligand. (2068892)
1991
43
Color and pulsed Doppler of renal masses. Angiographic and anatomo-pathological correlation]. (1721653)
1991
44
Parasitological diagnosis of mucocutaneous leishmaniasis due to Leishmania b. braziliensis in Bolivia. (1845007)
1991
45
Oral contraceptives and hepatic vein thrombosis. (7205808)
1981
46
Chromosomal assignment and regional localization of CS, ENO2, GAPDH, LDHB, PEPB, and TPI in man-rodent cell hybrids. (318158)
1978
47
Massive osteolysis due to hemangiomatosis; report of a case of Gorham's disease with autopsy. (13568049)
1958
48
Imperforate anus and associated anomalies. (13289197)
1956
49
50

Variations for Spastic Ataxia

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Expression for genes affiliated with Spastic Ataxia

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Search GEO for disease gene expression data for Spastic Ataxia.

Pathways for genes affiliated with Spastic Ataxia

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GO Terms for genes affiliated with Spastic Ataxia

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Sources for Spastic Ataxia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet