MCID: SPS004
MIFTS: 31

Spastic Quadriplegia malady

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Spastic Quadriplegia

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Aliases & Descriptions for Spastic Quadriplegia:

Name: Spastic Quadriplegia 10 47 12 65
Spastic Quadriplegic Cerebral Palsy 10 45 65
Cerebral Palsy, Quadriplegic, Infantile 65
Quadriplegic Infantile Cerebral Palsy 10
Tetraplegic Infantile Cerebral Palsy 10
 
Spastic Quadriplegia Cerebral Palsy 45
Cerebral Palsy Spastic Quadriplegic 45
Spastic Tetraplegia Cerebral Palsy 45
Quadriplegic Cerebral Palsy 65

Classifications:



External Ids:

Disease Ontology10 DOID:10970
ICD9CM29 343.2
MeSH36 D002547
ICD1027 G80.0
UMLS65 C0154697, C0426970, C0393995 C0837178, more

Summaries for Spastic Quadriplegia

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Disease Ontology:10 A spastic cerebral palsy that affects all four limbs. The individuals have difficulty with walking and talking.

MalaCards based summary: Spastic Quadriplegia, also known as spastic quadriplegic cerebral palsy, is related to cerebral palsy, spastic quadriplegic, 1 and ichthyosis, spastic quadriplegia, and mental retardation. An important gene associated with Spastic Quadriplegia is ELOVL4 (ELOVL Fatty Acid Elongase 4), and among its related pathways are Citrate cycle (TCA cycle) and Carbon metabolism. Affiliated tissues include spinal cord, colon and heart, and related mouse phenotype nervous system.

Wikipedia:68 Spastic quadriplegia, also known as spastic tetraplegia, is a subset of spastic cerebral palsy that... more...

Related Diseases for Spastic Quadriplegia

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

(show top 50)    (show all 57)
idRelated DiseaseScoreTop Affiliating Genes
1cerebral palsy, spastic quadriplegic, 113.0
2ichthyosis, spastic quadriplegia, and mental retardation12.7
3microcephaly with spastic quadriplegia12.5
4spastic quadriplegia retinitis pigmentosa mental retardation12.4
5congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome12.4
6pseudoprogeria syndrome11.4
7ichthyosis, spastic qudraplegia and mental retardation11.4
8spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome11.4
9inherited congenital spastic tetraplegia11.4
10spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome11.4
11pelizaeus-merzbacher disease10.7
12argininemia10.4
13cerebral palsy, spastic quadriplegic, 210.4
14epileptic encephalopathy, early infantile, 510.4
15mitochondrial complex ii deficiency10.4
16allan-herndon-dudley syndrome10.4
17breast cancer10.2
18leiomyoma10.2
19spastic paraplegia 2, x-linked10.1PLP1, SLC16A2
20hepatocellular carcinoma10.0
21charcot-marie-tooth disease10.0
22leukemia10.0
23middle cerebral artery infarction10.0
24phaeochromocytoma10.0
25tooth disease10.0
26cholecystolithiasis10.0
27primary hyperparathyroidism10.0
28arteriovenous malformation10.0
29esophagitis10.0
30urethritis10.0
31hyperparathyroidism10.0
32biliary atresia10.0
33azoospermia10.0
34oligospermia10.0
35cerebritis10.0
36tuberculosis10.0
37scrapie10.0
38paraplegia10.0
39prion disease10.0
40esophageal tuberculosis10.0
41cannabis abuse10.0
42developmental disabilities10.0
43diencephalic syndrome10.0
44spasticity10.0
45neuroaxonal dystrophy renal tubular acidosis10.0SDHA, SDHD
46paraganglioma and gastric stromal sarcoma10.0SDHA, SDHD
47oral hairy leukoplakia9.9SDHA, SDHD
48carnitine palmitoyltransferase i deficiency , muscle9.9SDHA, SDHD
49constant exophthalmos9.9SDHA, SDHD
50heritable pulmonary arterial hypertension9.8SDHA, SDHD

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



Diseases related to spastic quadriplegia

Symptoms for Spastic Quadriplegia

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Drugs & Therapeutics for Spastic Quadriplegia

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

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BaclofenapprovedPhase 4911134-47-02284
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
2
AcetylcholineexperimentalPhase 468951-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
Miochol E
O-Acetylcholine
acetylcholine chloride
3Neurotransmitter AgentsPhase 414795
4OnabotulinumtoxinAPhase 4588
5Peripheral Nervous System AgentsPhase 418510
6Neuromuscular AgentsPhase 4922
7IncobotulinumtoxinAPhase 4599
8Botulinum ToxinsPhase 4616
9Botulinum Toxins, Type APhase 4588
10Cholinergic AgentsPhase 43243
11AbobotulinumtoxinAPhase 4588

Interventional clinical trials:

idNameStatusNCT IDPhase
1Investigating Botulinum Toxin A to Treat Acute Neck/Upper Shoulder Pain Following a New Spinal Cord Injury.CompletedNCT00320281Phase 4
2Does Oral Baclofen Improve Care and Comfort in Spastic Children in Nursing Homes?RecruitingNCT00752934Phase 4
3MEOPA to Improve Physical Therapy Results After Multilevel SurgeryCompletedNCT00632528Phase 3
4Study of the Impact of the Use of a Corset on the Respiratory Function of Patients With Spinal Cord InjuryWithdrawnNCT01569360Phase 3
5The Effects of Passive Gait Training in Complete Motor Spinal Cord Injury (SCI)Not yet recruitingNCT01349478Phase 1, Phase 2
6The Safety of ahSC in Chronic SCI With RehabilitationRecruitingNCT02354625Phase 1
7Therapeutic Potential of Myofascial Structural Integration in Children With Cerebral PalsyCompletedNCT01815814
8Medico-economical Impact of the Brindley Neurosurgical Technique in FranceCompletedNCT00221767

Search NIH Clinical Center for Spastic Quadriplegia

Genetic Tests for Spastic Quadriplegia

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Anatomical Context for Spastic Quadriplegia

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MalaCards organs/tissues related to Spastic Quadriplegia:

33
Spinal cord, Colon, Heart, Kidney, Skin, Neutrophil, Prostate

Animal Models for Spastic Quadriplegia or affiliated genes

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MGI Mouse Phenotypes related to Spastic Quadriplegia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.9ARG1, ELOVL4, PLP1, SDHD, SLC16A2, SPTAN1

Publications for Spastic Quadriplegia

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Articles related to Spastic Quadriplegia:

(show all 40)
idTitleAuthorsYear
1
Loss of PCLO function underlies pontocerebellar hypoplasia type III. (25832664)
2015
2
Correlation between dental caries experience and mutans streptococci counts using saliva and plaque as microbial risk indicators in 3-8 year old children. A cross Sectional study. (25810821)
2015
3
Human I+-defensins are immune-related Kv1.3 channel inhibitors: new support for their roles in adaptive immunity. (26148969)
2015
4
An imbalance between Beclin-1 and p62 expression promotes the proliferation of myeloma cells through autophagy regulation. (24971696)
2014
5
Coffee consumption linked to a reduction in prostate cancer recurrence. (24399415)
2014
6
Glyceraldehyde-3-phosphate dehydrogenase interacts with proapoptotic kinase mst1 to promote cardiomyocyte apoptosis. (23527007)
2013
7
Syringomyelia, limb hypertrophy and sympathetic overactivity: a rare association. (22707684)
2012
8
Tumor-associated microglia/macrophages enhance the invasion of glioma stem-like cells via TGF-I^1 signaling pathway. (22664874)
2012
9
Asthma endophenotypes and polymorphisms in the histamine receptor HRH4 gene. (22653292)
2012
10
Shock: an unusual presentation of Kawasaki disease. (21347847)
2011
11
Modification of the relationship between urinary 8-OHdG and hippuric acid concentration by GSTM1, GSTT1, and ALDH2 genotypes. (20488846)
2011
12
Transcatheter closure of moderate-to-large patent ductus arteriosus in infants using Amplatzer duct occluder. (20032563)
2010
13
Leiomyomatosis of the esophagus: experience over a decade. (18818979)
2009
14
Prognostic significance of epidermal growth factor receptor phosphorylation and mutation in head and neck squamous cell carcinoma. (19726454)
2009
15
Lack of ABCG2 expression and side population properties in human pluripotent stem cells. (19670287)
2009
16
Cognitive behavior therapy for generalized anxiety disorder among older adults in primary care: a randomized clinical trial. (19351943)
2009
17
Role of Rap1B and tumor suppressor PTEN in the negative regulation of lysophosphatidic acid--induced migration by isoproterenol in glioma cells. (19864456)
2009
18
RET/PTC1-driven neoplastic transformation and proinvasive phenotype of human thyrocytes involve Met induction and beta-catenin nuclear translocation. (19107227)
2009
19
Does diabetes mellitus play a role in restenosis and patency rates following lower extremity peripheral arterial revascularization? A critical overview. (18411027)
2008
20
Sorafenib: new drug. Second-line treatment of kidney cancer: better evaluated than sunitinib. (17724834)
2007
21
Does abnormal expression of acetylcholine receptors in Hirschsprung's disease induce acetylcholine esterase positive nerve fibres? (17962128)
2007
22
A case with heterotaxy reaching the Fontan procedure after unifocalizations. (17560672)
2007
23
The prevalence of autoantibodies to: myosin, troponin, tropomyosin and myoglobin in patients with circulating triiodothyronine and thyroxine autoantibodies (THAA). (17627259)
2007
24
Reversible disruption of dynactin 1-mediated retrograde axonal transport in polyglutamine-induced motor neuron degeneration. (17122035)
2006
25
Relation between the tumor necrosis factor-alpha (TNF-alpha) gene and protein expression, and clinical, biochemical, and genetic markers: age, body mass index and uric acid are independent predictors for an elevated TNF-alpha plasma level in a complex risk model. (15319168)
2004
26
A signalling pathway controlling c-Myc degradation that impacts oncogenic transformation of human cells. (15048125)
2004
27
Contribution of elevated free fatty acid levels to the lack of glucose effectiveness in type 2 diabetes. (14578293)
2003
28
Recognition of the measles virus nucleocapsid as a mechanism of IRF-3 activation. (11907205)
2002
29
Contribution of selectin ligands to eosinophil recruitment into the skin of patients with atopic dermatitis. (11981814)
2002
30
Interleukin-10 reverses acute detrimental effects of endotoxin-induced inflammation on perinatal cerebral hypoxia-ischemia. (12031856)
2002
31
Schedule-dependent synergism and antagonism between raltitrexed ("Tomudex") and methotrexate in human colon cancer cell lines in vitro. (11173547)
2001
32
The role of cholesterol-lowering drugs in prevention of coronary heart disease]. (10021881)
1998
33
The pathway connecting m2 receptors to the nucleus involves small GTP-binding proteins acting on divergent MAP kinase cascades. (9121367)
1997
34
Differential expression of transforming growth factor alpha and insulin-like growth factor II in chronic active hepatitis B, cirrhosis and hepatocellular carcinoma. (7608479)
1995
35
RXR alpha, a promiscuous partner of retinoic acid and thyroid hormone receptors. (1314167)
1992
36
Human group II phospholipase A2. Characterization of monoclonal antibodies and immunochemical quantitation of the protein in synovial fluid. (1722494)
1991
37
Neutrophil surface-bound immunoglobulin--a feature of Felty's syndrome? (6749384)
1982
38
The chondrodysplasia punctata syndrome--the rhizomelic type. (262483)
1979
39
The primary structure of a monoclonal human lambda-type immunoglobulin L-chain of subgroup II (Bence-Jones protein NEI). (5043326)
1972
40
Penicillin therapy in 44 cases of primary and secondary syphilis. (4937488)
1971

Variations for Spastic Quadriplegia

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Expression for genes affiliated with Spastic Quadriplegia

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Search GEO for disease gene expression data for Spastic Quadriplegia.

Pathways for genes affiliated with Spastic Quadriplegia

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GO Terms for genes affiliated with Spastic Quadriplegia

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Sources for Spastic Quadriplegia

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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