MCID: PRP016
MIFTS: 47

Paraplegia malady

Rare diseases, Neuronal diseases categories
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Summaries for Paraplegia

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65Wikipedia, 33MalaCards
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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: Paraplegia, also known as severe or complete loss of motor function in the lower extremities and lower portions of the trunk, is related to hereditary spastic paraplegia and spastic paraplegia 3a. An important gene associated with Paraplegia is SPG7 (spastic paraplegia 7 (pure and complicated autosomal recessive)). Affiliated tissues include spinal cord, bone and heart, and related mouse phenotypes are nervous system and behavior/neurological.

Aliases & Classifications for Paraplegia

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8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 62UMLS, 58SNOMED-CT, 35MeSH, 40NCIt, 27ICD9CM, 25ICD10
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Classifications:

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


Aliases & Descriptions:

paraplegia 8 43 10 62
severe or complete loss of motor function in the lower extremities and lower portions of the trunk 43
paraplegia, lower 8


External Ids:

Disease Ontology8 DOID:607
MeSH35 D010264
NCIt40 C50687
SNOMED-CT58 60389000, 155031004
ICD9CM27 344.1
ICD1025 G82.2

Related Diseases for Paraplegia

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17GeneCards, 18GeneDecks
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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
1hereditary spastic paraplegia31.3HSPD1, ATL1, SPG20, SPAST, SPG7, PLP1
2spastic paraplegia 3a30.7ATL1, SPAST
3spasticity11.2
4aneurysm10.5
5neuropathy10.5
6spastic paraplegia 1110.5
7aortic aneurysm10.4
8spastic paraplegia 710.4
9spastic paraplegia 1510.4
10spastic paraplegia 410.4
11spastic paraplegia 810.4
12quadriplegia10.4
13troyer syndrome10.4
14spastic paraplegia 1710.4
15ischemia10.4
16spastic paraplegia 210.4
17spinal cord injury10.3
18ataxia10.3
19neuronitis10.3
20spastic paraplegia 39, autosomal recessive10.3
21thoracic aortic aneurysm10.3
22optic atrophy10.3
23spastic paraplegia, optic atrophy, and neuropathy10.3
24spastic paraplegia 2310.3
25spastic paraplegia 3110.3
26spastic paraplegia with precocious puberty10.3
27mental retardation10.3
28spastic paraplegia 3a, autosomal dominant10.3
29spastic paraplegia 110.2
30spastic paraplegia neuropathy poikiloderma10.2
31spastic paraplegia 5a, autosomal recessive10.2
32axonal neuropathy10.2
33pelizaeus-merzbacher disease10.2
34spastic paraplegia 5a10.2
35spastic paraplegia 72, autosomal recessive10.2
36spastic paraplegia 25, autosomal recessive10.2
37spastic paraplegia 49, autosomal recessive10.2
38spastic paraplegia 7, autosomal recessive10.2
39spastic paraplegia 2, x-linked10.2
40x-linked spastic paraplegia type 1610.2
41arteriovenous fistula10.2
42myelitis10.2
43cerebritis10.2
44cervicitis10.2
45fatty acid hydroxylase-associated neurodegeneration10.2
46spastic paraplegia 1010.2
47spastic paraplegia 610.2
48spastic paraplegia 30, autosomal recessive10.2
49spastic paraplegia 14, autosomal recessive10.2
50spastic paraplegia 38, autosomal dominant10.2

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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Paraplegia

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Anatomical Context for Paraplegia

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33MalaCards
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MalaCards organs/tissues related to Paraplegia:

33
Spinal cord, Bone, Heart, Thyroid, Brain, Testes, Temporal lobe, B cells, B lymphoblasts, T cells, Testis, Prostate, Breast, Bone marrow, Pancreas, Lung, Skeletal muscle, Cerebellum, Pituitary

Animal Models for Paraplegia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Paraplegia:

37
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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52PubMed
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Articles related to Paraplegia:

(show top 50)    (show all 993)
idTitleAuthorsYear
1
Transient paraplegia after epidural catheter removal during low molecular heparin prophylaxis. (24362493)
2014
2
A spastic paraplegia mouse model reveals REEP1-dependent ER shaping. (24051375)
2013
3
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
4
Vertical ground reaction force-based analysis of powered exoskeleton-assisted walking in persons with motor-complete paraplegia. (23820147)
2013
5
Sitting balance and limits of stability in persons with paraplegia. (23184029)
2013
6
Paraplegia following Thoracic and Lumbar Transforaminal Epidural Steroid Injections: How Relevant Are Particulate Steroids? (24152137)
2013
7
"I Can't Walk!" Acute Thrombosis of Descending Aorta Causing Paraplegia. (24106532)
2013
8
Adductor tenotomy and selective obturator neurectomy for the treatment of spasticity in a man with paraplegia. (23433333)
2013
9
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
10
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
11
Temporary paraplegia resulting from Gorham's disease involving the third lumbar vertebra and proximal femur: a five-year follow-up and review of the literature. (24206415)
2013
12
Paraplegia increases skeletal muscle autophagy. (23055316)
2012
13
Hepatocellular carcinoma as unusual cause for paraplegia. (22965954)
2012
14
Atypical hereditary spastic paraplegia with thin corpus callosum in a Korean patient with a novel SPG11 mutation. (22175763)
2012
15
Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations. (21214876)
2012
16
Paraplegia after posterior only correction of congenital kyphosis. (21822663)
2011
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
Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q. (9973294)
1999
42
A fine integrated map of the SPG4 locus excludes an expanded CAG repeat in chromosome 2p-linked autosomal dominant spastic paraplegia. (10493830)
1999
43
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
44
Management of spasticity in hereditary spastic paraplegia. (10368840)
1999
45
Hereditary spastic paraplegia: report of two siblings. (9599901)
1998
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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2BioGPS, 15Gene Expression Omnibus DataSets
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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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16Gene Ontology
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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:0074099.9SPAST, ATL1
2cell deathGO:0082195.8SPG21, SPG7, SPG11, SPAST, SPG20, ATL1

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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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet