MCID: SPS004
MIFTS: 37

Spastic Quadriplegia malady

Rare diseases, Neuronal diseases, Fetal diseases categories

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 lethal polymalformative syndrome, boissel type, is related to quadriplegia and spasticity. An important gene associated with Spastic Quadriplegia is FTO (fat mass and obesity associated). The compound glutamate have been mentioned in the context of this disorder. Affiliated tissues include bone, spinal cord and skin, and related mouse phenotypes are mortality/aging and nervous system.

Wikipedia:65 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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Sources:
10Disease Ontology, 12DISEASES, 45Novoseek, 62UMLS, 43NIH Rare Diseases, 49Orphanet, 57SNOMED-CT, 29ICD9CM, 35MeSH, 28ICD10 via Orphanet, 27ICD10
See all sources

Spastic Quadriplegia, Aliases & Descriptions:

Name: Spastic Quadriplegia 10 12 45 62
Lethal Polymalformative Syndrome, Boissel Type 43 49
Spastic Quadriplegic Cerebral Palsy 10 43
Cerebral Palsy, Quadriplegic, Infantile 62
Quadriplegic Infantile Cerebral Palsy 10
Tetraplegic Infantile Cerebral Palsy 10
 
Cerebral Palsy Spastic Quadriplegic 43
Spastic Quadriplegia Cerebral Palsy 43
Quadriplegic Spastic Cerebral Palsy 62
Spastic Tetraplegia Cerebral Palsy 43
Spastic Tetraplegic Cerebral Palsy 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

49
lethal polymalformative syndrome, boissel type:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

Disease Ontology10 DOID:10970
ICD9CM29 343.2
MeSH35 D002547
Orphanet49 210144
ICD10 via Orphanet28 Q87.8
ICD1027 G80.0

Related Diseases for Spastic Quadriplegia

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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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Drug clinical trials:

Search ClinicalTrials for Spastic Quadriplegia

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
Bone, Spinal cord, Skin

Animal Models for Spastic Quadriplegia or affiliated genes

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MGI Mouse Phenotypes related to Spastic Quadriplegia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107688.4ARG1, PLP1, FTO, ELOVL4, SPTAN1
2MP:00036318.1ARG1, PLP1, ELOVL4, TIAM1, SPTAN1
3MP:00053768.1TIAM1, ELOVL4, FTO, PLP1, ARG1

Publications for Spastic Quadriplegia

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Articles related to Spastic Quadriplegia:

(show all 39)
idTitleAuthorsYear
1
Surgical correction of scoliosis in children with spastic quadriplegia: benefits, adverse effects, and patient selection. (24715871)
2014
2
Spastic quadriplegia in Down syndrome with congenital duodenal stenosis/atresia. (22639992)
2012
3
A patient with altered consciousness and spastic quadriplegia. (21476222)
2011
4
Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia. (22100072)
2011
5
Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. (20493457)
2010
6
Alternative anesthetic management of a child with spastic quadriplegia due to metachromatic leukodystrophy using total intravenous anesthesia. (19453595)
2009
7
Etiologic profile of spastic quadriplegia in children. (18358417)
2008
8
Effect of nutritional support in children with spastic quadriplegia. (18940556)
2008
9
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
10
Etiologic profile of spastic quadriplegia in children. (17765809)
2007
11
Progression of scoliosis in patients with spastic quadriplegia after the insertion of an intrathecal baclofen pump. (18007255)
2007
12
Proximal femoral resection for subluxation or dislocation of the hip in spastic quadriplegia. (12828396)
2003
13
Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia. (12920088)
2003
14
Prevalence of reduced bone mass in children and adults with spastic quadriplegia. (12549750)
2003
15
Pictorial CME. Spastic quadriplegia due to cervical cord compression. (11924575)
2002
16
Spasticity management in the child with spastic quadriplegia. (11851741)
2001
17
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
18
Bone density and other possible predictors of fracture risk in children and adolescents with spastic quadriplegia. (9183259)
1997
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
Goniometric reliability for a child with spastic quadriplegia. (3998138)
1985
30
Enhancement of two motor functions of the lower extremity in a child with spastic quadriplegia. (3966079)
1985
31
Agenesis of the corpus callosum, infantile spasms, spastic quadriplegia, microcephaly and severe mental retardation in three siblings. (589850)
1977
32
Spastic quadriplegia due to electric shock. (4720779)
1973
33
Spastic quadriplegia due to electric shock. (4713989)
1973
34
Progressive spastic quadriplegia. (5978124)
1966
35
Spastic quadriplegia in a case of generalized neurofibromatosis. (4955595)
1966
36
Spastic quadriplegia combined with congenital ichthyosiform erythroderma and oligophrenia. (13594021)
1958
37
Retinitis pigmentosa, ophthalmoplegia, and spastic quadriplegia. (13394671)
1957
38
The association of congenital spastic quadriplegia and androgenic precocity in four patients. (15436558)
1950
39
Case of Spastic Quadriplegia following Injury of the Spinal Cord in the Upper Cervical Region, showing certain unusual Reflex Phenomena. (19981155)
1920

Variations for Spastic Quadriplegia

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Clinvar genetic disease variations for Spastic Quadriplegia:

7
id Gene Variation Type Significance SNP ID Assembly Location
1FTONM_001080432.2(FTO): c.947G> A (p.Arg316Gln)single nucleotide variantPathogenicrs121918214GRCh37Chr 16, 53907749: 53907749

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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Compounds for genes affiliated with Spastic Quadriplegia

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Sources:
45Novoseek
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Compounds related to Spastic Quadriplegia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1glutamate458.6ARG1, PLP1, TIAM1, SPTAN1

GO Terms for genes affiliated with Spastic Quadriplegia

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Products for genes affiliated with Spastic Quadriplegia

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Sources for Spastic Quadriplegia

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet