MCID: PRP016
MIFTS: 42

Paraplegia malady

Neuronal category

Summaries for Paraplegia

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64Wikipedia, 33MalaCards
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Wikipedia:64 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 SPAST (spastin). Related mouse phenotype behavior/neurological.

Aliases & Classifications for Paraplegia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 61UMLS, 27ICD9CM, 35MeSH, 57SNOMED-CT, 40NCIt, 25ICD10
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Classifications:

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


Aliases & Descriptions:

paraplegia 8 43 10 61
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
ICD9CM27 344.1
MeSH35 D010264
SNOMED-CT57 60389000, 155031004
NCIt40 C50687
ICD1025 G82.2

Related Diseases for Paraplegia

Sources:
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 324)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary spastic paraplegia31.6SPAST, SPG7, HSPD1, NIPA1, ATL1, PLP1
2spastic paraplegia 3a30.6SPAST, ATL1
3mental retardation30.3L1CAM, SPAST
4opa3-related 3-methylglutaconic aciduria29.6SPG7
5spastic paraplegia 1110.5
6spastic paraplegia 110.5
7spastic paraplegia 710.5
8spastic paraplegia 810.5
9spastic paraplegia 210.5
10spastic paraplegia 410.5
11aortic aneurysm10.4
12troyer syndrome10.4
13spastic paraplegia 1710.4
14quadriplegia10.4
15spinal cord injury10.4
16thoracic aortic aneurysm10.3
17spinal cord ischemia10.3
18neuropathy sensory spastic paraplegia10.3
19ataxia10.3
20spastic paraplegia 1010.3
21spastic paraplegia 1510.3
22spastic paraplegia with precocious puberty10.2
23axonal neuropathy10.2
24pelizaeus-merzbacher disease10.2
25hereditary ataxia10.2
26spastic paraplegia 2310.2
27spastic paraplegia 610.2
28spastic paraplegia neuropathy poikiloderma10.2
29spastic paraplegia 1210.2
30spastic paraplegia 3110.2
31spastic paraplegia 3a, autosomal dominant10.2
32spastic paraplegia 5a10.2
33spastic paraplegia 15, autosomal recessive10.2
34spastic paraplegia 39, autosomal recessive10.2
35myelitis10.2
36spastic paraplegia 5110.2
37spastic paraplegia 1310.2
38spastic paraplegia 1410.2
39spastic paraplegia 310.2
40spastic paraplegia epilepsy mental retardation10.2
41spastic paraplegia 14, autosomal recessive10.2
42spastic paraplegia 25, autosomal recessive10.2
43spastic paraplegia 19, autosomal dominant10.2
44spastic paraplegia 49, autosomal recessive10.2
45spastic paraplegia 7, autosomal recessive10.2
46spastic paraplegia 12, autosomal dominant10.2
47spastic paraplegia 2, x-linked10.2
48autosomal recessive pure spastic paraplegia10.2
49autosomal recessive complex spastic paraplegia10.2
50x-linked spastic paraplegia type 1610.2

Graphical network of the top 20 diseases related to Paraplegia:



Diseases related to paraplegia

Clinical Features for Paraplegia

Drugs & Therapeutics for Paraplegia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Paraplegia

Anatomical Context for Paraplegia

Animal Models for Paraplegia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Paraplegia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538610.8SPAST, SPG7, SPG20, KIF5A, KIF1A, PLP1

Publications for Paraplegia

Sources:
51PubMed
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Articles related to Paraplegia:

(show top 50)    (show all 1001)
idTitleAuthorsYear
1
De novo partial deletion in GRID2 presenting with complicated spastic paraplegia. (24122788)
2014
2
A spastic paraplegia mouse model reveals REEP1-dependent ER shaping. (24051375)
2013
3
"I Can't Walk!" Acute Thrombosis of Descending Aorta Causing Paraplegia. (24106532)
2013
4
An incomplete paraplegia following the dislocation of an artificial cervical total disc replacement. (23350533)
2013
5
REEPing the benefits of an animal model of hereditary spastic paraplegia. (24051371)
2013
6
Clinical Spectrum of Hereditary Spastic Paraplegia in Children: A study of 74 cases. (23984021)
2013
7
Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia. (24388663)
2013
8
Comparative modeling of 25-hydroxycholesterol-7I+-hydroxylase (CYP7B1): ligand binding and analysis of hereditary spastic paraplegia type 5 CYP7B1 mutations. (21541746)
2012
9
Ischemic dose-response in the spinal cord: both immediate and delayed paraplegia. (21543089)
2012
10
Severe adhesive arachnoiditis resulting in progressive paraplegia following obstetric spinal anaesthesia: a case report and review. (23061983)
2012
11
Transcriptional and post-transcriptional regulation of SPAST, the gene most frequently mutated in hereditary spastic paraplegia. (22574173)
2012
12
Metastatic paraplegia and vital prognosis: perspectives and limitations for rehabilitation care. Part 1. (21187215)
2011
13
Spastic paraplegia in a 4-year-old boy. (21977511)
2011
14
Paraplegia after myocardial revascularization. Case report. (20485966)
2010
15
Effect of hepatitis B virus X gene on the expression of spastic paraplegia 21]. (21205478)
2010
16
Receptor expression-enhancing protein 1 gene (SPG31) mutations are rare in Chinese Han patients with hereditary spastic paraplegia. (19781397)
2009
17
Advances in imaging of the spinal cord vascular supply and its relationship with paraplegia after aortic interventions. A review. (19713133)
2009
18
Characterisation of spinal cord in a mouse model of spastic paraplegia related to abnormal axono-myelin interactions by in vivo quantitative MRI. (19457399)
2009
19
Paraplegia of spinal epidural compression by metastatic breast cancer and urgent radiotherapy-timeliness for naught? (19381438)
2009
20
Widespread thalamic and cerebellar degeneration in a patient with a complicated hereditary spastic paraplegia (HSP). (19230631)
2009
21
A novel hereditary spastic paraplegia with dystonia linked to chromosome 2q24-2q31. (19006192)
2009
22
Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum. (18835492)
2008
23
Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4. (18401025)
2008
24
Psychosis, paraplegia and coma revealing methylenetetrahydrofolate reductase deficiency in a 56-year-old woman. (18356252)
2008
25
Clinical and genetic study of SPG6 mutation in a Chinese family with hereditary spastic paraplegia. (17928003)
2008
26
Hereditary spastic paraplegia 3A associated with axonal neuropathy. (17502470)
2007
27
Infantile onset of hereditary spastic paraplegia poorly predicts the genotype. (17560499)
2007
28
Four mutations of the spastin gene in Japanese families with spastic paraplegia. (16788734)
2006
29
Reduced regional cerebral blood flow in SPG4-linked hereditary spastic paraplegia. (15939438)
2005
30
The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria. (16239145)
2005
31
Hereditary spastic paraplegia with frontal lobe dysfunction: a clinicopathologic study. (15596767)
2004
32
Paraplegia due to spinal cord compression by extramedullary erythropoietic tissue in a thalassaemia intermedia patient with gynecomastia secondary to cirrhosis: successful treatment with hydroxyurea. (16462720)
2004
33
Treatment and prognosis of patients with paraplegia or quadriplegia because of metastatic spinal cord compression in prostate cancer. (12806378)
2003
34
Transient paraplegia after stent grafting of a descending thoracic aortic aneurysm treated with cerebrospinal fluid drainage. (12657411)
2003
35
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3. (12382159)
2002
36
A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). (12355402)
2002
37
Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1. (12070243)
2002
38
Carcinoid tumor mistaken for persistent neurogenic bowel symptoms in a patient with paraplegia: a case report. (11441392)
2001
39
Spinal cord ependymoma presenting with acute paraplegia due to tumoral bleeding. (11105838)
2000
40
A male child with the rumpshaker mutation, X-linked spastic paraplegia/Pelizaeus-Merzbacher disease and lysinuria. (9427151)
1997
41
Spastic Paraplegia 4 (20301339)
1993
42
Hereditary Spastic Paraplegia Overview (20301682)
1993
43
Spinal cord ischemia: an evaluation of pharmacologic agents in minimizing paraplegia after aortic occlusion. (2918625)
1989
44
Spinal cord potentials in traumatic paraplegia and quadriplegia. (7420105)
1980
45
Hereditary sensory neuropathy with spastic paraplegia. (218673)
1979
46
Homocarnosinosis. 3. Spinal fluid amino acids in familial spastic paraplegia. (842287)
1977
47
Hereditary spastic paraplegia. (611148)
1977
48
Homocarnosinosis. 2. A familial metabolic disorder associated with spastic paraplegia, progressive mental deficiency, and retinal pigmentation. (1266573)
1976
49
Peripheral circulation and catecholamine metabolism in paraplegia and quadriplegia. (5052871)
1972
50
The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting. (6022528)
1967

Genetic Variations for Paraplegia

Expression for genes affiliated with Paraplegia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Paraplegia

Search GEO for disease gene expression data for Paraplegia.

Pathways for genes affiliated with Paraplegia

Compounds for genes affiliated with Paraplegia

GO Terms for genes affiliated with Paraplegia

Sources:
16Gene Ontology
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Cellular components related to Paraplegia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral to membraneGO:01602110.8L1CAM, NIPA1, ATL1, AFG3L2, CYP2U1, PLP1
2midbodyGO:03049610.3ZFYVE26, SPG20, SPAST

Biological processes related to Paraplegia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:00821911.1KIAA0196, ZFYVE26, PLP1, KIF1A, KIF5A, AFG3L2
2protein catabolic processGO:03016310.5SPG7, AFG3L2
3axonogenesisGO:00740910.5SPAST, ATL1, AFG3L2
4anterograde axon cargo transportGO:00808910.3KIF1A, SPG7

Molecular functions related to Paraplegia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00551510.6HSPD1, AP5Z1, ATL1, AFG3L2, ZFYVE26, KIF5A
2microtubule bindingGO:00801710.6SPAST, KIF1A, KIF5A
3unfolded protein bindingGO:05108210.5HSPD1, AFG3L2, SPG7

Products for genes affiliated with Paraplegia

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  • Proteins
  • Lysates
  • Antibodies

Sources for Paraplegia

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet