MCID: SPS004
MIFTS: 32

Spastic Quadriplegia malady

Rare diseases, Neuronal diseases, Fetal diseases categories

Aliases & Classifications for Spastic Quadriplegia

About this section
Sources:
9Disease Ontology, 41NIH Rare Diseases, 11DISEASES, 43Novoseek, 47Orphanet, 60UMLS, 55SNOMED-CT, 27ICD9CM, 33MeSH, 26ICD10 via Orphanet, 25ICD10
See all sources

Spastic Quadriplegia, Aliases & Descriptions:

Name: Spastic Quadriplegia 9 11 43 60
Lethal Polymalformative Syndrome, Boissel Type 41 47
Spastic Quadriplegic Cerebral Palsy 9 41
Cerebral Palsy, Quadriplegic, Infantile 60
Quadriplegic Infantile Cerebral Palsy 9
 
Tetraplegic Infantile Cerebral Palsy 9
Spastic Quadriplegia Cerebral Palsy 41
Cerebral Palsy Spastic Quadriplegic 41
Quadriplegic Spastic Cerebral Palsy 60
Spastic Tetraplegia Cerebral Palsy 41


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
lethal polymalformative syndrome, boissel type:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal


External Ids:

Disease Ontology9 DOID:10970
ICD9CM27 343.2
MeSH33 D002547
Orphanet47 210144
ICD10 via Orphanet26 Q87.8
ICD1025 G80.0

Summaries for Spastic Quadriplegia

About this section


Disease Ontology:9 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:63 Spastic quadriplegia, also known as spastic tetraplegia, is a subset of spastic cerebral palsy that... more...

Related Diseases for Spastic Quadriplegia

About this section

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



Diseases related to spastic quadriplegia

Symptoms for Spastic Quadriplegia

About this section

Drugs & Therapeutics for Spastic Quadriplegia

About this section

Drug clinical trials:

Search ClinicalTrials for Spastic Quadriplegia

Search NIH Clinical Center for Spastic Quadriplegia

Genetic Tests for Spastic Quadriplegia

About this section

Anatomical Context for Spastic Quadriplegia

About this section

MalaCards organs/tissues related to Spastic Quadriplegia:

31
Bone, Spinal cord, Skin

Animal Models for Spastic Quadriplegia or affiliated genes

About this section

MGI Mouse Phenotypes related to Spastic Quadriplegia:

35
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

About this section

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

About this section

Clinvar genetic disease variations for Spastic Quadriplegia:

6
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

About this section
Search GEO for disease gene expression data for Spastic Quadriplegia.

Pathways for genes affiliated with Spastic Quadriplegia

About this section

Compounds for genes affiliated with Spastic Quadriplegia

About this section
Sources:
43Novoseek
See all sources

Compounds related to Spastic Quadriplegia according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1glutamate438.6ARG1, PLP1, TIAM1, SPTAN1

GO Terms for genes affiliated with Spastic Quadriplegia

About this section

Products for genes affiliated with Spastic Quadriplegia

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Spastic Quadriplegia

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet