MCID: SPS004
MIFTS: 39

Spastic Quadriplegia

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Spastic Quadriplegia

MalaCards integrated aliases for Spastic Quadriplegia:

Name: Spastic Quadriplegia 12 54 6 15 70
Spastic Quadriplegic Cerebral Palsy 12 20 36 70 32
Cerebral Palsy Spastic Quadriplegic 20 6
Cerebral Palsy, Quadriplegic, Infantile 70
Quadriplegic Infantile Cerebral Palsy 12
Tetraplegic Infantile Cerebral Palsy 12
Spastic Quadriplegia Cerebral Palsy 20
Spastic Tetraplegia Cerebral Palsy 20
Quadriplegic Cerebral Palsy 70

Classifications:



External Ids:

Disease Ontology 12 DOID:10970
KEGG 36 H01097
ICD9CM 34 343.2
MeSH 44 D002547
SNOMED-CT 67 192953000
ICD10 32 G80.0
UMLS 70 C0154697 C0393995 C0426970 more

Summaries for Spastic Quadriplegia

KEGG : 36 Spastic quadriplegic cerebral palsy (CPSQ) is a heterogeneous group of neurodevelopmental brain disorders resulting in motor and posture impairments often associated with cognitive, sensorial, and behavioural disturbances. It is thought that a half of idiopathic cerebral palsy cases are caused by genetic factors, such as mutations in GAD1, KANK1, and ADD3.

MalaCards based summary : Spastic Quadriplegia, also known as spastic quadriplegic cerebral palsy, is related to pelizaeus-merzbacher disease and mitochondrial complex ii deficiency, nuclear type 1, and has symptoms including opisthotonus and muscle spasticity. 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 Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and bone, and related phenotype is mortality/aging.

Disease Ontology : 12 A spastic cerebral palsy that affects all four limbs. The individuals have difficulty with walking and talking.

Wikipedia : 73 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 top 50) (show all 124)
# Related Disease Score Top Affiliating Genes
1 pelizaeus-merzbacher disease 32.1 SLC16A2 PLP1 ERCC6
2 mitochondrial complex ii deficiency, nuclear type 1 31.8 SDHD SDHAF1 SDHA
3 allan-herndon-dudley syndrome 31.5 SLC16A2 PLP1
4 spastic cerebral palsy 31.1 SPTAN1 SLC16A2 PLP1 KANK1 ERCC6 ELOVL4
5 kearns-sayre syndrome 29.8 SDHD SDHAF1 SDHA
6 quadriplegia 29.3 WDR45B TBCD TBCC SPTAN1 SLC16A2 SEPSECS
7 cerebral palsy, spastic quadriplegic, 1 11.9
8 cerebral palsy, spastic quadriplegic, 3 11.9
9 ichthyosis, spastic quadriplegia, and mental retardation 11.8
10 spastic paraplegia 51, autosomal recessive 11.6
11 neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies 11.6
12 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures 11.6
13 spastic paraplegia 50, autosomal recessive 11.4
14 spastic paraplegia 47, autosomal recessive 11.4
15 hereditary spastic paraplegia 51 11.4
16 microcephaly with spastic quadriplegia 11.4
17 spastic quadriplegia, retinitis pigmentosa, and mental retardation 11.3
18 spastic tetraplegia, thin corpus callosum, and progressive microcephaly 11.3
19 developmental and epileptic encephalopathy 5 11.2
20 developmental and epileptic encephalopathy 53 11.2
21 developmental and epileptic encephalopathy 55 11.2
22 8p inverted duplication/deletion syndrome 11.2
23 inherited congenital spastic tetraplegia 11.1
24 diencephalic-mesencephalic junction dysplasia syndrome 1 11.1
25 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome 11.1
26 developmental and epileptic encephalopathy 4 11.1
27 absent eyebrows and eyelashes with mental retardation 11.0
28 argininemia 11.0
29 sulfite oxidase deficiency, isolated 11.0
30 cerebral palsy, spastic quadriplegic, 2 11.0
31 spastic paraplegia 52, autosomal recessive 11.0
32 asparagine synthetase deficiency 11.0
33 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum 11.0
34 immunodeficiency 49 11.0
35 neurodevelopmental disorder with hypotonia, microcephaly, and seizures 11.0
36 mitochondrial complex iv deficiency, nuclear type 12 11.0
37 leukodystrophy, hypomyelinating, 20 11.0
38 pontocerebellar hypoplasia, type 14 11.0
39 pontocerebellar hypoplasia, type 15 11.0
40 rab18 deficiency 11.0
41 encephalocele 11.0
42 cerebral palsy 10.5
43 spasticity 10.4
44 neural crest tumor 10.3 SDHD SDHA
45 pelizaeus-merzbacher-like disease 10.3 SLC16A2 PLP1
46 foster-kennedy syndrome 10.3 SDHD SDHA
47 gastric leiomyosarcoma 10.3 SDHD SDHA
48 paragangliomas 1 10.3 SDHD SDHA
49 dermis tumor 10.3 SDHD SDHA
50 cerebellar angioblastoma 10.3 SDHD SDHA

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:


opisthotonus; muscle spasticity

MGI Mouse Phenotypes related to Spastic Quadriplegia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.47 ABCB6 ARG1 BCL11B ELOVL4 ERCC6 PLP1

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 Neurotransmitter Agents Phase 4
3 GABA Agonists Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Does Oral Baclofen Improve Care and Comfort in Spastic Children in Nursing Homes? Terminated NCT00752934 Phase 4 oral baclofen + placebo;placebo + oral baclofen
2 Postural Management to Prevent Hip Luxation in Quadriplegic Cerebral Palsy Children: Comparing Two Approaches in a Randomized Controlled Trial Recruiting NCT04603625

Search NIH Clinical Center for Spastic Quadriplegia

Genetic Tests for Spastic Quadriplegia

Anatomical Context for Spastic Quadriplegia

MalaCards organs/tissues related to Spastic Quadriplegia:

40
Brain, Spinal Cord, Bone, Cortex, Bone Marrow, Testes, Medulla Oblongata

Publications for Spastic Quadriplegia

Articles related to Spastic Quadriplegia:

(show top 50) (show all 521)
# Title Authors PMID Year
1
Identification of proteolipid protein 1 gene duplication by multiplex ligation-dependent probe amplification: first report of genetically confirmed family of Pelizaeus-Merzbacher disease in Korea. 54 61
18437021 2008
2
Biallelic Variants in the COLGALT1 Gene Causes Severe Congenital Porencephaly: A Case Report. 61
33709034 2021
3
Delineation of the phenotype of MED17-related disease in Caucasus-Jewish families. 61
33756211 2021
4
Neuroradiologic Features Associated With Severe Restriction of Functional Mobility in Children With Cerebral Palsy in North India. 61
33709827 2021
5
Two Italian Patients with ELOVL4-Related Neuro-Ichthyosis:  Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization. 61
33652762 2021
6
Chinese Cases of Metachromatic Leukodystrophy with the Novel Missense Mutations in ARSA Gene. 61
32617873 2021
7
X-Linked Agammaglobulinemia With Chronic Meningoencephalitis: A Diagnostic Challenge. 61
33632949 2021
8
Cerebral Palsy and Epilepsy in Children: Clinical Perspectives on a Common Comorbidity. 61
33396243 2020
9
Intrauterine cytomegalovirus infection: a possible risk for cerebral palsy and related to its clinical features, neuroimaging findings: a retrospective study. 61
33292171 2020
10
Spastic quadriplegia following intradermal use of hydrogen peroxide in the tardive curettage procedure for the treatment of a giant congenital nevus. 61
33645938 2020
11
Seizure burden and neurodevelopmental outcome in newborns with hypoxic-ischemic encephalopathy treated with therapeutic hypothermia: A single center observational study. 61
33160202 2020
12
Charcot-Marie-Tooth disease type 4J with spastic quadriplegia, epilepsy and global developmental delay: a tale of three siblings. 61
33080143 2020
13
A Case of "Sinking Skin Flap Syndrome" in Vegetative State Patient. 61
33163436 2020
14
Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused by MCT8 Gene Mutation. 61
32746752 2020
15
Whether the newly modified rhizotomy protocol is applicable to guide single-level approach SDR to treat spastic quadriplegia and diplegia in pediatric patients with cerebral palsy? 61
31502037 2020
16
Dynamic Surface Exercise Training in Improving Trunk Control and Gross Motor Functions among Children with Quadriplegic Cerebral Palsy: A Single Center, Randomized Controlled Trial. 61
33531934 2020
17
Robot-assisted gait training using a very small-sized Hybrid Assistive Limb® for pediatric cerebral palsy: A case report. 61
32249081 2020
18
Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2. 61
32519519 2020
19
Using the Edinburgh Visual Gait Score to Compare Ankle-Foot Orthoses, Sensorimotor Orthoses and Barefoot Gait Pattern in Children with Cerebral Palsy. 61
32492892 2020
20
A novel compound heterozygous missense mutation in ASNS broadens the spectrum of asparagine synthetase deficiency. 61
32255274 2020
21
Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran. 61
32162791 2020
22
Decreased mitochondrial DNA copy number in children with cerebral palsy quantified by droplet digital PCR. 61
31978410 2020
23
Derotational Subtrochanteric Osteotomy and External Fixation for the Treatment of Neurogenic Hip Dislocation in Children with Cerebral Palsy: Could This Be a Viable Method of Treatment? 61
32351817 2020
24
Pattern of Cerebral Palsy Among Sudanese Children Less Than 15 Years of Age. 61
32190529 2020
25
Severe Neuromuscular Scoliosis Implicated by Dysfunction of Intrathecal Baclofen Pump: Case Report and Review of the Literature. 61
31733394 2020
26
Cerebral palsy in children: a clinical overview. 61
32206590 2020
27
Small interstitial 9p24.3 deletions principally involving KANK1 are likely benign copy number variants. 61
30684669 2020
28
Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family. 61
33193012 2020
29
Neuroimaging patterns of anatomical features in pediatric cerebral palsy patients at Ayder hospital, Mekelle, Ethiopia. 61
33147254 2020
30
ASSESSMENT OF NUTRITIONAL STATUS AND FREQUENCY OF COMPLICATIONS ASSOCIATED TO FEEDING IN PATIENTS WITH SPASTIC QUADRIPLEGIC CEREBRAL PALSY. 61
32401853 2020
31
A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature. 61
31444167 2019
32
DEGS1 variant causes neurological disorder. 61
31186544 2019
33
Longitudinal MRI findings in patient with SLC25A12 pathogenic variants inform disease progression and classification. 61
31403263 2019
34
Use of outcome measures in children with severe cerebral palsy: A survey of U.K. physiotherapists. 61
31172663 2019
35
Long-term prognosis of epilepsy in patients with cerebral palsy. 61
30854645 2019
36
SEC31A mutation affects ER homeostasis, causing a neurological syndrome. 61
30464055 2019
37
Large left posterior fossa meningioma presenting with quadriplegia in a woman with history of carbidopa-levodopa resistant parkinsonism. 61
30996844 2019
38
High rates of malnutrition and epilepsy: two common comorbidities in children with cerebral palsy 61
30761843 2019
39
The medical and social outcome in 2016 of infants who were victims of shaken baby syndrome between 2005 and 2013. 61
30554853 2019
40
Human Parechovirus 3 in Infants: Expanding Our Knowledge of Adverse Outcomes. 61
30204658 2019
41
Intrathecal baclofen toxicity in a patient with acute kidney injury. 61
31476182 2019
42
Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic. 61
30258207 2018
43
TLE1, a key player in neurogenesis, a new candidate gene for autosomal recessive postnatal microcephaly. 61
29758293 2018
44
West syndrome, developmental and epileptic encephalopathy, and severe CNS disorder associated with WWOX mutations. 61
30361190 2018
45
The SORCS3 gene is mutated in brothers with infantile spasms and intellectual disability. 61
30586538 2018
46
Evidence Supporting Selective Dorsal Rhizotomy for Treatment of Spastic Cerebral Palsy. 61
30585282 2018
47
Does power mobility training impact a child's mastery motivation and spectrum of EEG activity? An exploratory project. 61
28853621 2018
48
Asparagine Synthetase Deficiency 61
30234940 2018
49
Functional profiles of children with cerebral palsy in Jordan based on the association between gross motor function and manual ability. 61
30131063 2018
50
Magnetic Resonance Imaging of Cerebral Palsy in the Assessment of Time of Brain Insult. 61
30141431 2018

Variations for Spastic Quadriplegia

ClinVar genetic disease variations for Spastic Quadriplegia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ISCA2 NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser) SNV Likely pathogenic 183353 rs730882246 GRCh37: 14:74961032-74961032
GRCh38: 14:74494329-74494329
2 IDH3G NM_004135.4(IDH3G):c.694T>C (p.Phe232Leu) SNV Uncertain significance 982795 GRCh37: X:153052589-153052589
GRCh38: X:153787134-153787134
3 GAD1 NM_000817.3(GAD1):c.-41_-40insCT Insertion Uncertain significance 332223 rs560889153 GRCh37: 2:171675061-171675062
GRCh38: 2:170818551-170818552
4 GAD1 NM_000817.3(GAD1):c.*810T>C SNV Uncertain significance 332251 rs886055101 GRCh37: 2:171717202-171717202
GRCh38: 2:170860692-170860692

Copy number variations for Spastic Quadriplegia from CNVD:

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

36
# 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 mitochondrial envelope GO:0005740 8.96 SDHD ABCB6
2 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) GO:0005749 8.62 SDHA SDHD

Biological processes related to Spastic Quadriplegia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tubulin complex assembly GO:0007021 9.16 TBCC TBCD
2 post-chaperonin tubulin folding pathway GO:0007023 8.96 TBCC TBCD
3 mitochondrial electron transport, succinate to ubiquinone GO:0006121 8.62 SDHA SDHD

Molecular functions related to Spastic Quadriplegia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 succinate dehydrogenase activity GO:0000104 8.62 SDHD SDHA

Sources for Spastic Quadriplegia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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