MCID: SPS004
MIFTS: 38

Spastic Quadriplegia malady

Neuronal diseases category

Summaries for Spastic Quadriplegia

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8Disease Ontology, 63Wikipedia, 32MalaCards
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Disease Ontology:8 A spastic cerebral palsy that affects all four limbs. the individuals have difficulty with walking and talking.

MalaCards: Spastic Quadriplegia, also known as spastic quadriplegic cerebral palsy, is related to pelizaeus-merzbacher disease and quadriplegia. An important gene associated with Spastic Quadriplegia is PLP1 (proteolipid protein 1), and among its related pathways are Interaction between L1 and Ankyrins and Other glycan degradation. The compound l-fucose have been mentioned in the context of this disorder. Affiliated tissues include bone, spinal cord and skin, and related mouse phenotype nervous system.

Wikipedia:63 Spastic quadriplegia, also known as spastic tetraplegia, is a subset of spastic cerebral palsy that... more...

Aliases & Classifications for Spastic Quadriplegia

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8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS, 42NIH Rare Diseases, 56SNOMED-CT, 27ICD9CM, 34MeSH, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Aliases & Descriptions:

spastic quadriplegia 8 10 44 60
spastic quadriplegic cerebral palsy 8 42
cerebral palsy, quadriplegic, infantile 60
quadriplegic infantile cerebral palsy 8
tetraplegic infantile cerebral palsy 8
spastic quadriplegia cerebral palsy 42
cerebral palsy spastic quadriplegic 42
quadriplegic spastic cerebral palsy 60
spastic tetraplegia cerebral palsy 42


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Disease Ontology8 DOID:10970
ICD9CM27 343.2
MeSH34 D002547
ICD1025 G80.0

Related Diseases for Spastic Quadriplegia

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Spastic Quadriplegia:



Diseases related to spastic quadriplegia

Clinical Features for Spastic Quadriplegia

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Drugs & Therapeutics for Spastic Quadriplegia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Spastic Quadriplegia

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Anatomical Context for Spastic Quadriplegia

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32MalaCards
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MalaCards organs/tissues related to Spastic Quadriplegia:

32
Bone, Spinal cord, Skin

Animal Models for Spastic Quadriplegia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Spastic Quadriplegia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.6ELOVL4, SPTAN1, SLC16A2, PLP1, ANK3, ARG1

Publications for Spastic Quadriplegia

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50PubMed
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Articles related to Spastic Quadriplegia:

(show all 40)
idTitleAuthorsYear
1
Spastic quadriplegia in Down syndrome with congenital duodenal stenosis/atresia. (22639992)
2012
2
A patient with altered consciousness and spastic quadriplegia. (21476222)
2011
3
Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia. (22100072)
2011
4
Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. (20493457)
2010
5
Alternative anesthetic management of a child with spastic quadriplegia due to metachromatic leukodystrophy using total intravenous anesthesia. (19453595)
2009
6
Etiologic profile of spastic quadriplegia in children. (18358417)
2008
7
Effect of nutritional support in children with spastic quadriplegia. (18940556)
2008
8
Proximal femoral resection and articulated hip distraction with an external fixator for the treatment of painful spastic hip dislocations in pediatric patients with spastic quadriplegia. (18043374)
2008
9
Etiologic profile of spastic quadriplegia in children. (17765809)
2007
10
Progression of scoliosis in patients with spastic quadriplegia after the insertion of an intrathecal baclofen pump. (18007255)
2007
11
Proximal femoral resection for subluxation or dislocation of the hip in spastic quadriplegia. (12828396)
2003
12
Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia. (12920088)
2003
13
Prevalence of reduced bone mass in children and adults with spastic quadriplegia. (12549750)
2003
14
Pictorial CME. Spastic quadriplegia due to cervical cord compression. (11924575)
2002
15
Spasticity management in the child with spastic quadriplegia. (11851741)
2001
16
Resolution: a 15-year-old with spastic quadriplegia and a 60 degree scoliosis should have a posterior spinal fusion with instrumentation. The American Academy for Cerebral Palsy and Developmental Medicine 50th anniversary meeting debate. (9593501)
1998
17
Bone density and other possible predictors of fracture risk in children and adolescents with spastic quadriplegia. (9183259)
1997
18
Monozygotic twin patients with congenital ichthyosis, microcephalus, spastic quadriplegia, myoclonus, and EEG abnormalities. (7619196)
1995
19
Changes in hip migration after selective dorsal rhizotomy for spastic quadriplegia in cerebral palsy. (7897515)
1995
20
Cost analysis of continuous intrathecal baclofen versus selective functional posterior rhizotomy in the treatment of spastic quadriplegia associated with cerebral palsy. (7547458)
1995
21
Temporomandibular joint contracture in spastic quadriplegia: effect on oral-motor skills. (8005359)
1994
22
Selective intrathecal phenol block to improve activities of daily living in patients with spastic quadriplegia. A preliminary report. (7970851)
1994
23
Effect of hosiery on skin temperature in spastic quadriplegia. A preliminary study. (8040808)
1994
24
Spastic quadriplegia in Western Australia. II: Pedigrees and family patterns of birthweight and gestational age. (8462754)
1993
25
Spastic quadriplegia in Western Australia: a genetic epidemiological study. I: Case population and perinatal risk factors. (8385035)
1993
26
Decrease in gastric emptying time and episodes of regurgitation in children with spastic quadriplegia fed a whey-based formula. (1552396)
1992
27
Energy and nutrient intakes of children with spastic quadriplegia. (1960614)
1991
28
Upper extremity inhibitive casting in a boy with spastic quadriplegia. (2353723)
1990
29
Early diagnosis of spastic diplegia, spastic hemiplegia, and quadriplegia. (2816867)
1989
30
Goniometric reliability for a child with spastic quadriplegia. (3998138)
1985
31
Enhancement of two motor functions of the lower extremity in a child with spastic quadriplegia. (3966079)
1985
32
Agenesis of the corpus callosum, infantile spasms, spastic quadriplegia, microcephaly and severe mental retardation in three siblings. (589850)
1977
33
Spastic quadriplegia due to electric shock. (4720779)
1973
34
Spastic quadriplegia due to electric shock. (4713989)
1973
35
Progressive spastic quadriplegia. (5978124)
1966
36
Spastic quadriplegia in a case of generalized neurofibromatosis. (4955595)
1966
37
Spastic quadriplegia combined with congenital ichthyosiform erythroderma and oligophrenia. (13594021)
1958
38
Retinitis pigmentosa, ophthalmoplegia, and spastic quadriplegia. (13394671)
1957
39
The association of congenital spastic quadriplegia and androgenic precocity in four patients. (15436558)
1950
40
Case of Spastic Quadriplegia following Injury of the Spinal Cord in the Upper Cervical Region, showing certain unusual Reflex Phenomena. (19981155)
1920

Genetic Variations for Spastic Quadriplegia

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Expression for genes affiliated with Spastic Quadriplegia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Spastic Quadriplegia

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Pathways for genes affiliated with Spastic Quadriplegia

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53Reactome, 29KEGG
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Pathways related to Spastic Quadriplegia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7SPTAN1, ANK3
29.3FUCA2, FUCA1

Compounds for genes affiliated with Spastic Quadriplegia

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44Novoseek, 24HMDB
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Compounds related to Spastic Quadriplegia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1l-fucose44 2410.3FUCA2, FUCA1

GO Terms for genes affiliated with Spastic Quadriplegia

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16Gene Ontology
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Cellular components related to Spastic Quadriplegia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lateral plasma membraneGO:0163289.7SPTAN1, ANK3
2lysosomeGO:0057648.5FUCA2, FUCA1, ANK3

Biological processes related to Spastic Quadriplegia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1fucose metabolic processGO:0060049.3FUCA2, FUCA1

Molecular functions related to Spastic Quadriplegia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transferase activityGO:01674010.0ELOVL4, MOCS2
2spectrin bindingGO:0305079.4SPTAN1, ANK3
3alpha-L-fucosidase activityGO:0045609.3FUCA2, FUCA1
4fucose bindingGO:0428069.2FUCA2, FUCA1

Products for genes affiliated with Spastic Quadriplegia

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Sources for Spastic Quadriplegia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet