MCID: PRP016
MIFTS: 48

Paraplegia malady

Rare diseases, Neuronal diseases categories
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Summaries for Paraplegia

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Wikipedia:65 Paraplegia is an impairment in motor or sensory function of the lower extremities. The word comes from... more...

MalaCards based summary: Paraplegia, also known as severe or complete loss of motor function in the lower extremities and lower portions of the trunk, is related to spastic paraplegia 3a and hereditary spastic paraplegia. An important gene associated with Paraplegia is SPG7 (spastic paraplegia 7 (pure and complicated autosomal recessive)). Affiliated tissues include spinal cord, bone and brain, and related mouse phenotypes are nervous system and behavior/neurological.

Aliases & Classifications for Paraplegia

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Paraplegia, Aliases & Descriptions:

Name: Paraplegia 8 42 10 62
Severe or Complete Loss of Motor Function in the Lower Extremities and Lower Portions of the Trunk 42
 
Paraplegia, Lower 8


Classifications:

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


External Ids:

Disease Ontology8 DOID:607
MeSH34 D010264
NCIt39 C50687
SNOMED-CT57 155031004, 60389000
ICD9CM27 344.1
ICD1025 G82.2

Related Diseases for Paraplegia

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Diseases related to Paraplegia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 379)
idRelated DiseaseScoreTop Affiliating Genes
1spastic paraplegia 3a30.9ATL1, SPAST
2hereditary spastic paraplegia30.1HSPD1, ATL1, SPG20, SPAST, SPG7, PLP1
3spasticity11.2
4spastic paraplegia 1110.6
5neuropathy10.5
6aneurysm10.5
7spastic paraplegia 410.5
8spastic paraplegia 710.5
9spastic paraplegia 810.5
10spastic paraplegia 1510.5
11troyer syndrome10.5
12spastic paraplegia 210.5
13aortic aneurysm10.5
14spastic paraplegia 1710.5
15quadriplegia10.4
16ataxia10.4
17spinal cord injury10.4
18ischemia10.4
19neuronitis10.3
20optic atrophy10.3
21spastic paraplegia with precocious puberty10.3
22thoracic aortic aneurysm10.3
23spastic paraplegia 39, autosomal recessive10.3
24spastic paraplegia 2310.3
25spastic paraplegia 3110.3
26mental retardation10.3
27spastic paraplegia, optic atrophy, and neuropathy10.3
28spastic paraplegia 3a, autosomal dominant10.3
29axonal neuropathy10.2
30spastic paraplegia 110.2
31spastic paraplegia 5a10.2
32spastic paraplegia neuropathy poikiloderma10.2
33spastic paraplegia 2, x-linked10.2
34hereditary ataxia10.2
35pelizaeus-merzbacher disease10.2
36cerebritis10.2
37fatty acid hydroxylase-associated neurodegeneration10.2
38spastic paraplegia 72, autosomal recessive10.2
39spastic paraplegia 5a, autosomal recessive10.2
40spastic paraplegia 49, autosomal recessive10.2
41arteriovenous fistula10.2
42cervicitis10.2
43spastic paraplegia 1010.2
44spastic paraplegia 310.2
45spastic paraplegia 5110.2
46spastic paraplegia 610.2
47spastic paraplegia facial cutaneous lesions10.2
48spastic paraplegia 30, autosomal recessive10.2
49spastic paraplegia 38, autosomal dominant10.2
50spastic paraplegia 25, autosomal recessive10.2

Graphical network of the top 20 diseases related to Paraplegia:



Diseases related to paraplegia

Symptoms for Paraplegia

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Drugs & Therapeutics for Paraplegia

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Drug clinical trials:

Search ClinicalTrials for Paraplegia

Search NIH Clinical Center for Paraplegia

Genetic Tests for Paraplegia

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Anatomical Context for Paraplegia

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MalaCards organs/tissues related to Paraplegia:

32
Spinal cord, Bone, Brain, Heart, Thyroid, Testes, Bone marrow, Cerebellum, Skeletal muscle, Lung, Pancreas, Breast, Prostate, Testis, T cells, B lymphoblasts, B cells, Temporal lobe, Pituitary

Animal Models for Paraplegia or affiliated genes

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MGI Mouse Phenotypes related to Paraplegia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.6KIF5A, PLP1, HSPD1, SPG20, SPAST, SPG7
2MP:00053867.0KIF5A, SPG7, SPAST, SPG20, ATL1, HSPD1

Publications for Paraplegia

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Articles related to Paraplegia:

(show top 50)    (show all 1036)
idTitleAuthorsYear
1
A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother. (25315759)
2014
2
Erb's paraplegia with primary optic atrophy: Unusual presentation of neurosyphilis: Case report and review of literature. (25024583)
2014
3
Transient paraplegia after epidural catheter removal during low molecular heparin prophylaxis. (24362493)
2014
4
A spastic paraplegia mouse model reveals REEP1-dependent ER shaping. (24051375)
2013
5
Tetraplegia or paraplegia with brachial diparesis? What is the most appropriate designation for the motor deficit in patients with lower cervical spinal cord injury? (22825074)
2013
6
Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia. (23857099)
2013
7
Vertical ground reaction force-based analysis of powered exoskeleton-assisted walking in persons with motor-complete paraplegia. (23820147)
2013
8
Sitting balance and limits of stability in persons with paraplegia. (23184029)
2013
9
Paraplegia following Thoracic and Lumbar Transforaminal Epidural Steroid Injections: How Relevant Are Particulate Steroids? (24152137)
2013
10
"I Can't Walk!" Acute Thrombosis of Descending Aorta Causing Paraplegia. (24106532)
2013
11
Adductor tenotomy and selective obturator neurectomy for the treatment of spasticity in a man with paraplegia. (23433333)
2013
12
Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia. (23483706)
2013
13
Behcet's disease presenting with sudden-onset paraplegia due to anterior spinal artery involvement: 1-year follow-up of rehabilitation in conjunction with medication. (22193225)
2013
14
Paraplegia increases skeletal muscle autophagy. (23055316)
2012
15
Atypical hereditary spastic paraplegia with thin corpus callosum in a Korean patient with a novel SPG11 mutation. (22175763)
2012
16
Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations. (21214876)
2012
17
Transient paraplegia after accidental insertion of an epidural catheter into an arachnoid cyst. (21897183)
2011
18
Bladder dysfunction in hereditary spastic paraplegia: what to expect? (19726407)
2010
19
Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19. (20039086)
2010
20
Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation. (19735987)
2010
21
Pancoast tumour presenting as paraplegia with Horner's syndrome. (21046878)
2010
22
Images in anesthesiology: transient paraplegia after anesthesia for magnetic resonance imaging. (20683256)
2010
23
Motor and functional evaluation of patients with spastic paraplegia, optic atrophy, and neuropathy (SPOAN). (20339643)
2010
24
New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP). (19034539)
2009
25
Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia. (19917823)
2009
26
MR imaging findings in autosomal recessive hereditary spastic paraplegia. (19193756)
2009
27
Occult dural arteriovenous fistula causing rapidly progressive conus medullaris syndrome and paraplegia after lumbar microdiscectomy. (19442586)
2009
28
SPG3A-hereditary spastin paraplegia with genetic anticipation and incomplete penetrance]. (17285536)
2007
29
Rapidly progressive paraplegia due to an extradural lumbar meningocele mimicking a cyst. Case report. (17633492)
2007
30
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. (17322883)
2007
31
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia. (16682546)
2006
32
Methylphenidate fails to improve gait and muscle tone in patients with sporadic and hereditary spastic paraplegia. (16705687)
2006
33
Primary lateral sclerosis, hereditary spastic paraplegia and amyotrophic lateral sclerosis: discrete entities or spectrum? (16036421)
2005
34
A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia. (15711826)
2005
35
Objective assessment of gait after intrathecal baclofen in hereditary spastic paraplegia. (15765194)
2005
36
Gait analysis of sporadic and hereditary spastic paraplegia. (15164190)
2004
37
A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene. (15450775)
2004
38
The temporal profile of the reaction of microglia, astrocytes, and macrophages in the delayed onset paraplegia after transient spinal cord ischemia in rabbits. (12761011)
2003
39
Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class. (12960222)
2003
40
Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia. (12163196)
2002
41
Motor evoked potentials from the external anal sphincter in patients with autosomal dominant pure spastic paraplegia linked to chromosome 2p. (11561054)
2001
42
Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q. (9973294)
1999
43
A fine integrated map of the SPG4 locus excludes an expanded CAG repeat in chromosome 2p-linked autosomal dominant spastic paraplegia. (10493830)
1999
44
Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2). (9934976)
1999
45
Management of spasticity in hereditary spastic paraplegia. (10368840)
1999
46
A male child with the rumpshaker mutation, X-linked spastic paraplegia/Pelizaeus-Merzbacher disease and lysinuria. (9427151)
1997
47
Pure hereditary spastic paraplegia. (9192272)
1997
48
Autosomal dominant familial spastic paraplegia: reduction of the FSP1 candidate region on chromosome 14q to 7 cM and locus heterogeneity. (7825576)
1995
49
A quantitative study of sensory function in hereditary spastic paraplegia. (2364265)
1990
50
Paraplegia and quadriplegia in the elderly due to spinal cord lesions: association with malignancy. (7204805)
1981

Variations for Paraplegia

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Expression for genes affiliated with Paraplegia

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Expression patterns in normal tissues for genes affiliated with Paraplegia

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Pathways for genes affiliated with Paraplegia

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Compounds for genes affiliated with Paraplegia

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GO Terms for genes affiliated with Paraplegia

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Cellular components related to Paraplegia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral component of membraneGO:0160218.4NIPA1, PLP1, ATL1, SPAST, SPG11, SPG7

Biological processes related to Paraplegia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1axonogenesisGO:0074099.9ATL1, SPAST
2cell deathGO:0082195.8NIPA1, SPG21, SPG7, SPG11, SPAST, SPG20

Molecular functions related to Paraplegia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1unfolded protein bindingGO:0510829.4HSPD1, SPG7
2protein bindingGO:0055156.6KIF5A, SPG7, SPG11, SPAST, SPG20, ATL1

Products for genes affiliated with Paraplegia

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Sources for Paraplegia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet