MCID: SPS004
MIFTS: 34

Spastic Quadriplegia

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Spastic Quadriplegia

MalaCards integrated aliases for Spastic Quadriplegia:

Name: Spastic Quadriplegia 12 55 15 73
Spastic Quadriplegic Cerebral Palsy 12 53 37 73
Cerebral Palsy Spastic Quadriplegic 53 6
Cerebral Palsy, Quadriplegic, Infantile 73
Quadriplegic Infantile Cerebral Palsy 12
Tetraplegic Infantile Cerebral Palsy 12
Spastic Quadriplegia Cerebral Palsy 53
Spastic Tetraplegia Cerebral Palsy 53
Quadriplegic Cerebral Palsy 73

Classifications:



External Ids:

Disease Ontology 12 DOID:10970
ICD9CM 35 343.2
MeSH 44 D002547
SNOMED-CT 68 192953000 275468009
KEGG 37 H01097
ICD10 33 G80.0

Summaries for Spastic Quadriplegia

Disease Ontology : 12 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 pelizaeus-merzbacher disease and cerebral palsy, and has symptoms including muscle spasticity and opisthotonus. An important gene associated with Spastic Quadriplegia is ELOVL4 (ELOVL Fatty Acid Elongase 4), and among its related pathways/superpathways is GABAergic synapse. The drugs Baclofen and Epoetin alfa have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and brain.

Wikipedia : 76 Spastic quadriplegia, also known as spastic tetraplegia, is a subset of spastic cerebral palsy that... more...

Related Diseases for Spastic Quadriplegia

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

(show all 46)
# Related Disease Score Top Affiliating Genes
1 pelizaeus-merzbacher disease 31.7 PLP1 SLC16A2
2 cerebral palsy 28.9 KANK1 PLP1
3 quadriplegia 24.7 ARG1 BCL11B ELOVL4 KANK1 PLP1 SDHAF1
4 cerebral palsy, spastic quadriplegic, 1 12.7
5 ichthyosis, spastic quadriplegia, and mental retardation 12.4
6 microcephaly with spastic quadriplegia 12.1
7 spastic quadriplegia, retinitis pigmentosa, and mental retardation 12.1
8 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures 12.1
9 absent eyebrows and eyelashes with mental retardation 11.6
10 microcephaly, seizures, spasticity, and brain calcifications 11.0
11 spastic tetraplegia, thin corpus callosum, and progressive microcephaly 11.0
12 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome 11.0
13 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 11.0
14 inherited congenital spastic tetraplegia 11.0
15 argininemia 11.0
16 mitochondrial complex ii deficiency 11.0
17 allan-herndon-dudley syndrome 11.0
18 cerebral palsy, spastic quadriplegic, 2 11.0
19 epileptic encephalopathy, early infantile, 5 11.0
20 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum 11.0
21 immunodeficiency 49 11.0
22 epileptic encephalopathy, early infantile, 53 11.0
23 spastic cerebral palsy 11.0
24 encephalocele 11.0
25 spasticity 10.7
26 cerebritis 10.2
27 alacrima, achalasia, and mental retardation syndrome 10.1
28 scoliosis 10.1
29 pelizaeus-merzbacher-like disease 10.0 PLP1 SLC16A2
30 microcephaly 10.0
31 ichthyosis 10.0
32 cervicitis 10.0
33 down syndrome 9.8
34 metachromatic leukodystrophy 9.8
35 retinitis pigmentosa 9.8
36 aging 9.8
37 leber congenital amaurosis 4 9.8
38 west syndrome 9.8
39 ichthyosis lamellar 1 9.8
40 leukodystrophy 9.8
41 congenital ichthyosiform erythroderma 9.8
42 epilepsy 9.8
43 infantile epileptic encephalopathy 9.8
44 retinitis 9.8
45 duodenitis 9.8
46 myoclonus 9.8

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



Diseases related to Spastic Quadriplegia

Symptoms & Phenotypes for Spastic Quadriplegia

UMLS symptoms related to Spastic Quadriplegia:


muscle spasticity, opisthotonus

Drugs & Therapeutics for Spastic Quadriplegia

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Baclofen Approved Phase 4 1134-47-0 2284
2 Epoetin alfa Phase 3 113427-24-0
3 Hematinics Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Does Oral Baclofen Improve Care and Comfort in Spastic Children in Nursing Homes? Unknown status NCT00752934 Phase 4 oral baclofen + placebo;placebo + oral baclofen
2 Erythropoietin in Management of Neonatal Hypoxic Ischemic Encephalopathy Not yet recruiting NCT03163589 Phase 3 Erythropoietin;normal saline
3 Balance and Posture in Adults With Cerebral Palsy Active, not recruiting NCT01585571

Search NIH Clinical Center for Spastic Quadriplegia

Genetic Tests for Spastic Quadriplegia

Anatomical Context for Spastic Quadriplegia

MalaCards organs/tissues related to Spastic Quadriplegia:

41
Bone, Skin, Brain, Spinal Cord

Publications for Spastic Quadriplegia

Articles related to Spastic Quadriplegia:

(show all 48)
# Title Authors Year
1
WDR45B-related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: A consistent neurodevelopmental syndrome. ( 28503735 )
2017
2
A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutation. ( 29254829 )
2017
3
Correspondence: Skeletal Maturation and Mineralization of Children with Moderate to Severe Spastic Quadriplegia. ( 28571225 )
2017
4
Orthodontic treatment and follow-up of a patient with cerebral palsy and spastic quadriplegia. ( 27692425 )
2016
5
Correlations between risk factors and functional evolution in patients with spastic quadriplegia. ( 27453749 )
2016
6
The benefits of a comprehensive rehabilitation program in patients diagnosed with spastic quadriplegia. ( 27974931 )
2016
7
Skeletal Maturation and Mineralisation of Children with Moderate to Severe Spastic Quadriplegia. ( 27504366 )
2016
8
Surgical correction of scoliosis in children with spastic quadriplegia: benefits, adverse effects, and patient selection. ( 24715871 )
2014
9
Disruption of Basal lamina components in neuromotor synapses of children with spastic quadriplegic cerebral palsy. ( 23976945 )
2013
10
Spastic quadriplegia in Down syndrome with congenital duodenal stenosis/atresia. ( 22639992 )
2012
11
A patient with altered consciousness and spastic quadriplegia. ( 21476222 )
2011
12
Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia. ( 22100072 )
2011
13
Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. ( 20493457 )
2010
14
Alternative anesthetic management of a child with spastic quadriplegia due to metachromatic leukodystrophy using total intravenous anesthesia. ( 19453595 )
2009
15
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
16
Etiologic profile of spastic quadriplegia in children. ( 18358417 )
2008
17
Effect of nutritional support in children with spastic quadriplegia. ( 18940556 )
2008
18
Etiologic profile of spastic quadriplegia in children. ( 17765809 )
2007
19
Progression of scoliosis in patients with spastic quadriplegia after the insertion of an intrathecal baclofen pump. ( 18007255 )
2007
20
Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia. ( 12920088 )
2003
21
Prevalence of reduced bone mass in children and adults with spastic quadriplegia. ( 12549750 )
2003
22
Proximal femoral resection for subluxation or dislocation of the hip in spastic quadriplegia. ( 12828396 )
2003
23
Pictorial CME. Spastic quadriplegia due to cervical cord compression. ( 11924575 )
2002
24
Spasticity management in the child with spastic quadriplegia. ( 11851741 )
2001
25
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
26
Bone density and other possible predictors of fracture risk in children and adolescents with spastic quadriplegia. ( 9183259 )
1997
27
Changes in hip migration after selective dorsal rhizotomy for spastic quadriplegia in cerebral palsy. ( 7897515 )
1995
28
Cost analysis of continuous intrathecal baclofen versus selective functional posterior rhizotomy in the treatment of spastic quadriplegia associated with cerebral palsy. ( 7547458 )
1995
29
Monozygotic twin patients with congenital ichthyosis, microcephalus, spastic quadriplegia, myoclonus, and EEG abnormalities. ( 7619196 )
1995
30
Selective intrathecal phenol block to improve activities of daily living in patients with spastic quadriplegia. A preliminary report. ( 7970851 )
1994
31
Temporomandibular joint contracture in spastic quadriplegia: effect on oral-motor skills. ( 8005359 )
1994
32
Effect of hosiery on skin temperature in spastic quadriplegia. A preliminary study. ( 8040808 )
1994
33
Spastic quadriplegia in Western Australia. II: Pedigrees and family patterns of birthweight and gestational age. ( 8462754 )
1993
34
Spastic quadriplegia in Western Australia: a genetic epidemiological study. I: Case population and perinatal risk factors. ( 8385035 )
1993
35
Decrease in gastric emptying time and episodes of regurgitation in children with spastic quadriplegia fed a whey-based formula. ( 1552396 )
1992
36
Energy and nutrient intakes of children with spastic quadriplegia. ( 1960614 )
1991
37
Upper extremity inhibitive casting in a boy with spastic quadriplegia. ( 2353723 )
1990
38
Enhancement of two motor functions of the lower extremity in a child with spastic quadriplegia. ( 3966079 )
1985
39
Goniometric reliability for a child with spastic quadriplegia. ( 3998138 )
1985
40
Agenesis of the corpus callosum, infantile spasms, spastic quadriplegia, microcephaly and severe mental retardation in three siblings. ( 589850 )
1977
41
Spastic quadriplegia due to electric shock. ( 4713989 )
1973
42
Spastic quadriplegia due to electric shock. ( 4720779 )
1973
43
Progressive spastic quadriplegia. ( 5978124 )
1966
44
Spastic quadriplegia in a case of generalized neurofibromatosis. ( 4955595 )
1966
45
Spastic quadriplegia combined with congenital ichthyosiform erythroderma and oligophrenia. ( 13594021 )
1958
46
Retinitis pigmentosa, ophthalmoplegia, and spastic quadriplegia. ( 13394671 )
1957
47
The association of congenital spastic quadriplegia and androgenic precocity in four patients. ( 15436558 )
1950
48
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

ClinVar genetic disease variations for Spastic Quadriplegia:

6
(show top 50) (show all 84)
# Gene Variation Type Significance SNP ID Assembly Location
1 GAD1 NM_000817.2(GAD1): c.-158G> A single nucleotide variant Likely benign rs45486908 GRCh38 Chromosome 2, 170816954: 170816954
2 GAD1 NM_000817.2(GAD1): c.-158G> A single nucleotide variant Likely benign rs45486908 GRCh37 Chromosome 2, 171673464: 171673464
3 GAD1 NM_000817.2(GAD1): c.-147G> A single nucleotide variant Benign rs3749034 GRCh38 Chromosome 2, 170816965: 170816965
4 GAD1 NM_000817.2(GAD1): c.-147G> A single nucleotide variant Benign rs3749034 GRCh37 Chromosome 2, 171673475: 171673475
5 GAD1 NM_000817.2(GAD1): c.-41_-40insCT insertion Uncertain significance rs560889153 GRCh38 Chromosome 2, 170818551: 170818552
6 GAD1 NM_000817.2(GAD1): c.-41_-40insCT insertion Uncertain significance rs560889153 GRCh37 Chromosome 2, 171675061: 171675062
7 GAD1 NM_000817.2(GAD1): c.111T> C (p.His37=) single nucleotide variant Benign rs769404 GRCh38 Chromosome 2, 170822115: 170822115
8 GAD1 NM_000817.2(GAD1): c.111T> C (p.His37=) single nucleotide variant Benign rs769404 GRCh37 Chromosome 2, 171678625: 171678625
9 GAD1 NM_000817.2(GAD1): c.268C> T (p.Arg90Cys) single nucleotide variant Uncertain significance rs373042715 GRCh38 Chromosome 2, 170829597: 170829597
10 GAD1 NM_000817.2(GAD1): c.268C> T (p.Arg90Cys) single nucleotide variant Uncertain significance rs373042715 GRCh37 Chromosome 2, 171686107: 171686107
11 GAD1 NM_000817.2(GAD1): c.682A> C (p.Ile228Leu) single nucleotide variant Uncertain significance rs45566933 GRCh38 Chromosome 2, 170844088: 170844088
12 GAD1 NM_000817.2(GAD1): c.682A> C (p.Ile228Leu) single nucleotide variant Uncertain significance rs45566933 GRCh37 Chromosome 2, 171700598: 171700598
13 GAD1 NM_000817.2(GAD1): c.1614G> C (p.Val538=) single nucleotide variant Uncertain significance rs886055099 GRCh38 Chromosome 2, 170859711: 170859711
14 GAD1 NM_000817.2(GAD1): c.1614G> C (p.Val538=) single nucleotide variant Uncertain significance rs886055099 GRCh37 Chromosome 2, 171716221: 171716221
15 GAD1 NM_000817.2(GAD1): c.*67A> G single nucleotide variant Likely benign rs769406 GRCh38 Chromosome 2, 170859949: 170859949
16 GAD1 NM_000817.2(GAD1): c.*67A> G single nucleotide variant Likely benign rs769406 GRCh37 Chromosome 2, 171716459: 171716459
17 GAD1 NM_000817.2(GAD1): c.*1008C> T single nucleotide variant Likely benign rs769399 GRCh38 Chromosome 2, 170860890: 170860890
18 GAD1 NM_000817.2(GAD1): c.*1008C> T single nucleotide variant Likely benign rs769399 GRCh37 Chromosome 2, 171717400: 171717400
19 GAD1 NM_000817.2(GAD1): c.-397T> G single nucleotide variant Uncertain significance rs375137598 GRCh37 Chromosome 2, 171673225: 171673225
20 GAD1 NM_000817.2(GAD1): c.-397T> G single nucleotide variant Uncertain significance rs375137598 GRCh38 Chromosome 2, 170816715: 170816715
21 GAD1 NM_000817.2(GAD1): c.-244G> A single nucleotide variant Uncertain significance rs576236119 GRCh37 Chromosome 2, 171673378: 171673378
22 GAD1 NM_000817.2(GAD1): c.-244G> A single nucleotide variant Uncertain significance rs576236119 GRCh38 Chromosome 2, 170816868: 170816868
23 GAD1 NM_000817.2(GAD1): c.-29A> G single nucleotide variant Uncertain significance rs551237040 GRCh38 Chromosome 2, 170818563: 170818563
24 GAD1 NM_000817.2(GAD1): c.-29A> G single nucleotide variant Uncertain significance rs551237040 GRCh37 Chromosome 2, 171675073: 171675073
25 GAD1 NM_000817.2(GAD1): c.399T> C (p.Asp133=) single nucleotide variant Conflicting interpretations of pathogenicity rs112737041 GRCh38 Chromosome 2, 170831044: 170831044
26 GAD1 NM_000817.2(GAD1): c.399T> C (p.Asp133=) single nucleotide variant Conflicting interpretations of pathogenicity rs112737041 GRCh37 Chromosome 2, 171687554: 171687554
27 GAD1 NM_000817.2(GAD1): c.867+9G> A single nucleotide variant Uncertain significance rs369785577 GRCh37 Chromosome 2, 171702140: 171702140
28 GAD1 NM_000817.2(GAD1): c.867+9G> A single nucleotide variant Uncertain significance rs369785577 GRCh38 Chromosome 2, 170845630: 170845630
29 GAD1 NM_000817.2(GAD1): c.1173C> T (p.Asn391=) single nucleotide variant Uncertain significance rs34856125 GRCh38 Chromosome 2, 170849339: 170849339
30 GAD1 NM_000817.2(GAD1): c.1173C> T (p.Asn391=) single nucleotide variant Uncertain significance rs34856125 GRCh37 Chromosome 2, 171705849: 171705849
31 GAD1 NM_000817.2(GAD1): c.1450C> T (p.Leu484=) single nucleotide variant Likely benign rs769392 GRCh38 Chromosome 2, 170857054: 170857054
32 GAD1 NM_000817.2(GAD1): c.1450C> T (p.Leu484=) single nucleotide variant Likely benign rs769392 GRCh37 Chromosome 2, 171713564: 171713564
33 GAD1 NM_000817.2(GAD1): c.1473T> C (p.Tyr491=) single nucleotide variant Uncertain significance rs146199288 GRCh38 Chromosome 2, 170857077: 170857077
34 GAD1 NM_000817.2(GAD1): c.1473T> C (p.Tyr491=) single nucleotide variant Uncertain significance rs146199288 GRCh37 Chromosome 2, 171713587: 171713587
35 GAD1 NM_000817.2(GAD1): c.1595G> A (p.Arg532Gln) single nucleotide variant Likely benign rs769402 GRCh38 Chromosome 2, 170858877: 170858877
36 GAD1 NM_000817.2(GAD1): c.1595G> A (p.Arg532Gln) single nucleotide variant Likely benign rs769402 GRCh37 Chromosome 2, 171715387: 171715387
37 GAD1 NM_000817.2(GAD1): c.*513C> T single nucleotide variant Likely benign rs45456393 GRCh38 Chromosome 2, 170860395: 170860395
38 GAD1 NM_000817.2(GAD1): c.*513C> T single nucleotide variant Likely benign rs45456393 GRCh37 Chromosome 2, 171716905: 171716905
39 GAD1 NM_000817.2(GAD1): c.*764G> T single nucleotide variant Uncertain significance rs886055100 GRCh38 Chromosome 2, 170860646: 170860646
40 GAD1 NM_000817.2(GAD1): c.*764G> T single nucleotide variant Uncertain significance rs886055100 GRCh37 Chromosome 2, 171717156: 171717156
41 GAD1 NM_000817.2(GAD1): c.*803T> C single nucleotide variant Likely benign rs45557335 GRCh38 Chromosome 2, 170860685: 170860685
42 GAD1 NM_000817.2(GAD1): c.*803T> C single nucleotide variant Likely benign rs45557335 GRCh37 Chromosome 2, 171717195: 171717195
43 GAD1 NM_000817.2(GAD1): c.-176G> C single nucleotide variant Uncertain significance rs886055095 GRCh38 Chromosome 2, 170816936: 170816936
44 GAD1 NM_000817.2(GAD1): c.-176G> C single nucleotide variant Uncertain significance rs886055095 GRCh37 Chromosome 2, 171673446: 171673446
45 GAD1 NM_000817.2(GAD1): c.-161G> A single nucleotide variant Uncertain significance rs886055096 GRCh37 Chromosome 2, 171673461: 171673461
46 GAD1 NM_000817.2(GAD1): c.-161G> A single nucleotide variant Uncertain significance rs886055096 GRCh38 Chromosome 2, 170816951: 170816951
47 GAD1 NM_000817.2(GAD1): c.-161G> T single nucleotide variant Uncertain significance rs886055096 GRCh38 Chromosome 2, 170816951: 170816951
48 GAD1 NM_000817.2(GAD1): c.-161G> T single nucleotide variant Uncertain significance rs886055096 GRCh37 Chromosome 2, 171673461: 171673461
49 GAD1 NM_000817.2(GAD1): c.265C> T (p.Arg89Trp) single nucleotide variant Uncertain significance rs150841255 GRCh38 Chromosome 2, 170829594: 170829594
50 GAD1 NM_000817.2(GAD1): c.265C> T (p.Arg89Trp) single nucleotide variant Uncertain significance rs150841255 GRCh37 Chromosome 2, 171686104: 171686104

Copy number variations for Spastic Quadriplegia from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 246804 9 125800000 132500000 Microdeletion STXBP1 Spastic Quadriplegia
2 247705 9 130689850 130689869 Microdeletion SPTAN1 Spastic Quadriplegia

Expression for Spastic Quadriplegia

Search GEO for disease gene expression data for Spastic Quadriplegia.

Pathways for Spastic Quadriplegia

Pathways related to Spastic Quadriplegia according to KEGG:

37
# Name Kegg Source Accession
1 GABAergic synapse hsa04727

GO Terms for Spastic Quadriplegia

Cellular components related to Spastic Quadriplegia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 specific granule lumen GO:0035580 8.62 ARG1 SPTAN1

Sources for Spastic Quadriplegia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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