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 15 71
Spastic Quadriplegic Cerebral Palsy 12 52 36 71 32
Cerebral Palsy Spastic Quadriplegic 52 6
Cerebral Palsy, Quadriplegic, Infantile 71
Quadriplegic Infantile Cerebral Palsy 12
Tetraplegic Infantile Cerebral Palsy 12
Spastic Quadriplegia Cerebral Palsy 52
Spastic Tetraplegia Cerebral Palsy 52
Quadriplegic Cerebral Palsy 71

Classifications:



External Ids:

Disease Ontology 12 DOID:10970
KEGG 36 H01097
ICD9CM 34 343.2
MeSH 43 D002547
SNOMED-CT 67 275468009
ICD10 32 G80.0
UMLS 71 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, 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, bone and spinal cord, and related phenotype is nervous system.

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

Wikipedia : 74 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 117)
# Related Disease Score Top Affiliating Genes
1 pelizaeus-merzbacher disease 32.6 SLC16A2 PLP1 ERCC6
2 mitochondrial complex ii deficiency 32.2 SDHD SDHAF1 SDHA
3 allan-herndon-dudley syndrome 32.1 SLC16A2 PLP1
4 spastic cerebral palsy 31.1 WARS2 TBC1D20 SPTAN1 SLC16A2 PLP1 KANK1
5 quadriplegia 28.0 ZC4H2 WDR45B TIAM1 TBCD TBCC SPTAN1
6 cerebral palsy, spastic quadriplegic, 1 13.0
7 cerebral palsy, spastic quadriplegic, 3 12.9
8 ichthyosis, spastic quadriplegia, and mental retardation 12.9
9 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures 12.8
10 neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies 12.7
11 spastic quadriplegia, retinitis pigmentosa, and mental retardation 12.4
12 microcephaly with spastic quadriplegia 12.4
13 absent eyebrows and eyelashes with mental retardation 11.9
14 spastic paraplegia 51, autosomal recessive 11.9
15 inherited congenital spastic tetraplegia 11.7
16 spastic paraplegia 50, autosomal recessive 11.6
17 spastic paraplegia 47, autosomal recessive 11.6
18 spastic paraplegia 52, autosomal recessive 11.6
19 hereditary spastic paraplegia 51 11.6
20 epileptic encephalopathy, early infantile, 5 11.6
21 spastic tetraplegia, thin corpus callosum, and progressive microcephaly 11.5
22 epileptic encephalopathy, early infantile, 53 11.4
23 8p inverted duplication/deletion syndrome 11.4
24 diencephalic-mesencephalic junction dysplasia syndrome 1 11.3
25 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome 11.3
26 argininemia 11.3
27 sulfite oxidase deficiency, isolated 11.3
28 cerebral palsy, spastic quadriplegic, 2 11.3
29 asparagine synthetase deficiency 11.3
30 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum 11.3
31 immunodeficiency 49 11.3
32 epileptic encephalopathy, early infantile, 55 11.3
33 neurodevelopmental disorder with hypotonia, microcephaly, and seizures 11.3
34 rab18 deficiency 11.3
35 encephalocele 11.3
36 cerebral palsy 10.5
37 pelizaeus-merzbacher-like disease 10.5 SLC16A2 PLP1
38 spasticity 10.4
39 neural crest tumor 10.4 SDHD SDHA
40 foster-kennedy syndrome 10.4 SDHD SDHA
41 gastric leiomyosarcoma 10.4 SDHD SDHA
42 pheochromocytoma-paraganglioma 10.4 SDHD SDHA
43 cerebellar angioblastoma 10.3 SDHD SDHA
44 extra-adrenal pheochromocytoma 10.3 SDHD SDHA
45 carney triad 10.3 SDHD SDHA
46 esophagus leiomyoma 10.3 SDHD SDHA
47 adrenal medulla cancer 10.3 SDHD SDHA
48 alacrima, achalasia, and mental retardation syndrome 10.3
49 leukodystrophy, hypomyelinating, 5 10.3 PLP1 ERCC6
50 hypoparathyroidism-retardation-dysmorphism syndrome 10.3 TBCD TBCC

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.32 ARG1 ELOVL4 ERCC6 PLP1 SDHD SLC16A2

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 PROMPT to Improve Speech Motor Abilities in Preschool Children With Cerebral Palsy Recruiting NCT04189159
3 Rescue of Infants With MCT8 Deficiency Under Emergency Use Single Patient Expanded Access Treatment Available NCT04143295 Diiodothyropropionic acid
4 Energy Costs of Spasticity in Spinal Cord Injury: A Pilot Investigation Terminated NCT00572845

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, Bone, Spinal Cord, Testes, Cortex, Kidney, Thyroid

Publications for Spastic Quadriplegia

Articles related to Spastic Quadriplegia:

(show top 50) (show all 504)
# 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. 61 54
18437021 2008
2
Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2. 61
32519519 2020
3
A novel compound heterozygous missense mutation in ASNS broadens the spectrum of asparagine synthetase deficiency. 61
32255274 2020
4
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
5
Robot-assisted gait training using a very small-sized Hybrid Assistive Limb® for pediatric cerebral palsy: A case report. 61
32249081 2020
6
Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran. 61
32162791 2020
7
Decreased mitochondrial DNA copy number in children with cerebral palsy quantified by droplet digital PCR. 61
31978410 2020
8
Pattern of Cerebral Palsy Among Sudanese Children Less Than 15 Years of Age. 61
32190529 2020
9
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
10
Cerebral palsy in children: a clinical overview. 61
32206590 2020
11
Severe Neuromuscular Scoliosis Implicated by Dysfunction of Intrathecal Baclofen Pump: Case Report and Review of the Literature. 61
31733394 2020
12
Small interstitial 9p24.3 deletions principally involving KANK1 are likely benign copy number variants. 61
30684669 2020
13
ASSESSMENT OF NUTRITIONAL STATUS AND FREQUENCY OF COMPLICATIONS ASSOCIATED TO FEEDING IN PATIENTS WITH SPASTIC QUADRIPLEGIC CEREBRAL PALSY. 61
32401853 2020
14
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
15
DEGS1 variant causes neurological disorder. 61
31186544 2019
16
Longitudinal MRI findings in patient with SLC25A12 pathogenic variants inform disease progression and classification. 61
31403263 2019
17
Use of outcome measures in children with severe cerebral palsy: A survey of U.K. physiotherapists. 61
31172663 2019
18
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 2019
19
Long-term prognosis of epilepsy in patients with cerebral palsy. 61
30854645 2019
20
SEC31A mutation affects ER homeostasis, causing a neurological syndrome. 61
30464055 2019
21
Large left posterior fossa meningioma presenting with quadriplegia in a woman with history of carbidopa-levodopa resistant parkinsonism. 61
30996844 2019
22
High rates of malnutrition and epilepsy: two common comorbidities in children with cerebral palsy 61
30761843 2019
23
Human Parechovirus 3 in Infants: Expanding Our Knowledge of Adverse Outcomes. 61
30204658 2019
24
The medical and social outcome in 2016 of infants who were victims of shaken baby syndrome between 2005 and 2013. 61
30554853 2019
25
Intrathecal baclofen toxicity in a patient with acute kidney injury. 61
31476182 2019
26
Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic. 61
30258207 2018
27
TLE1, a key player in neurogenesis, a new candidate gene for autosomal recessive postnatal microcephaly. 61
29758293 2018
28
The SORCS3 gene is mutated in brothers with infantile spasms and intellectual disability. 61
30586538 2018
29
West syndrome, developmental and epileptic encephalopathy, and severe CNS disorder associated with WWOX mutations. 61
30361190 2018
30
Evidence Supporting Selective Dorsal Rhizotomy for Treatment of Spastic Cerebral Palsy. 61
30585282 2018
31
Does power mobility training impact a child's mastery motivation and spectrum of EEG activity? An exploratory project. 61
28853621 2018
32
Asparagine Synthetase Deficiency 61
30234940 2018
33
Functional profiles of children with cerebral palsy in Jordan based on the association between gross motor function and manual ability. 61
30131063 2018
34
Magnetic Resonance Imaging of Cerebral Palsy in the Assessment of Time of Brain Insult. 61
30141431 2018
35
Natural history of scoliosis in cerebral palsy and risk factors for progression of scoliosis. 61
29705176 2018
36
Simultaneous Selective Dorsal Rhizotomy and Baclofen Pump Removal Improve Ambulation in Patients with Spastic Cerebral Palsy. 61
30112267 2018
37
Resting energy expenditure in children with cerebral palsy: Accuracy of available prediction formulae and development of a population-specific formula. 61
29779817 2018
38
Association of NOS1 gene polymorphisms with cerebral palsy in a Han Chinese population: a case-control study. 61
29940959 2018
39
Selective dorsal rhizotomy for the treatment of severe spastic cerebral palsy: efficacy and therapeutic durability in GMFCS grade IV and V children. 61
29116382 2018
40
A severe female case of arthrogryposis multiplex congenita with brain atrophy, spastic quadriplegia and intellectual disability caused by ZC4H2 mutation. 61
29254829 2018
41
WDR45B-related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: A consistent neurodevelopmental syndrome. 61
28503735 2018
42
RAB18 Deficiency 61
29300443 2018
43
Relief of Upper Airway Obstruction Using a Cervical Splint for Young Patients with Cerebral Palsy. 61
29750629 2018
44
Assessment of oral and dental health status in children with cerebral palsy: An exploratory study. 61
29623011 2018
45
Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2? 61
28762473 2017
46
Therapeutic effects of intensive voice treatment (LSVT LOUD®) for children with spastic cerebral palsy and dysarthria: A phase I treatment validation study. 61
27705010 2017
47
Soft-tissue release for hip subluxation and dislocation in cerebral palsy. 61
29255529 2017
48
TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes. 61
28973395 2017
49
The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1. 61
28825856 2017
50
Functional integrity in children with anoxic brain injury from drowning. 61
28759710 2017

Variations for Spastic Quadriplegia

ClinVar genetic disease variations for Spastic Quadriplegia:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GAD1 NM_000817.3(GAD1):c.-41_-40insCTinsertion Uncertain significance 332223 rs560889153 2:171675061-171675062 2:170818551-170818552
2 GAD1 NM_000817.3(GAD1):c.*810T>CSNV Uncertain significance 332251 rs886055101 2:171717202-171717202 2:170860692-170860692

Copy number variations for Spastic Quadriplegia from CNVD:

7
# CNVD ID Chromosome 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:

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 SDHD SDHA

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

# Name GO ID Score Top Affiliating Genes
1 cargo loading into COPII-coated vesicle GO:0090110 9.26 TBC1D20 SEC31A
2 tubulin complex assembly GO:0007021 9.16 TBCD TBCC
3 post-chaperonin tubulin folding pathway GO:0007023 8.96 TBCD TBCC
4 mitochondrial electron transport, succinate to ubiquinone GO:0006121 8.62 SDHD SDHA

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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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