MCID: PRP016
MIFTS: 48

Paraplegia malady

Neuronal diseases category

Summaries for Paraplegia

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63Wikipedia, 32MalaCards
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Wikipedia:63 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). Affiliated tissues include spinal cord, bone and heart, and related mouse phenotype behavior/neurological.

Aliases & Classifications for Paraplegia

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8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 60UMLS, 27ICD9CM, 34MeSH, 56SNOMED-CT, 39NCIt, 25ICD10
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Classifications:

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


Aliases & Descriptions:

paraplegia 8 42 10 60
severe or complete loss of motor function in the lower extremities and lower portions of the trunk 42
paraplegia, lower 8


External Ids:

Disease Ontology8 DOID:607
ICD9CM27 344.1
MeSH34 D010264
SNOMED-CT56 60389000, 155031004
NCIt39 C50687
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 346)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary spastic paraplegia31.6SPAST, SPG7, SPG20, KIF5A, HSPD1, NIPA1
2spastic paraplegia 3a30.7SPAST, ATL1
3intellectual disability29.9L1CAM
4multiple sclerosis29.8HSPD1, PLP1
5opa3-related 3-methylglutaconic aciduria29.6SPG7
6motor neuron disease29.6SPAST
7spastic paraplegia 1110.5
8spastic paraplegia 410.5
9neuropathy10.5
10spastic paraplegia 710.5
11spastic paraplegia 810.5
12aortic aneurysm10.4
13spastic paraplegia 1710.4
14spastic paraplegia 210.4
15quadriplegia10.4
16ischemia10.3
17troyer syndrome10.3
18spastic paraplegia 1510.3
19thoracic aortic aneurysm10.3
20spinal cord ischemia10.3
21neuronitis10.3
22spastic paraplegia 39, autosomal recessive10.3
23optic atrophy10.2
24spastic paraplegia 2310.2
25spastic paraplegia with precocious puberty10.2
26spastic paraplegia 3110.2
27spastic paraplegia 3a, autosomal dominant10.2
28axonal neuropathy10.2
29hereditary sensory neuropathy10.2
30hereditary ataxia10.2
31spastic paraplegia 110.2
32spastic paraplegia neuropathy poikiloderma10.2
33spastic paraplegia 5a, autosomal recessive10.2
34pelizaeus-merzbacher disease10.2
35spastic paraplegia 5a10.2
36spastic paraplegia 25, autosomal recessive10.2
37spastic paraplegia 15, autosomal recessive10.2
38spastic paraplegia 49, autosomal recessive10.2
39spastic paraplegia 7, autosomal recessive10.2
40spastic paraplegia 2, x-linked10.2
41x-linked spastic paraplegia type 1610.2
42arteriovenous fistula10.1
43myelitis10.1
44cerebritis10.1
45cervicitis10.1
46fatty acid hydroxylase-associated neurodegeneration10.1
47spastic paraplegia 1010.1
48spastic paraplegia 610.1
49spastic paraplegia 30, autosomal recessive10.1
50spastic paraplegia 14, autosomal recessive10.1

Graphical network of the top 20 diseases related to Paraplegia:



Diseases related to paraplegia

Clinical Features for Paraplegia

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Drugs & Therapeutics for Paraplegia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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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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32MalaCards
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MalaCards organs/tissues related to Paraplegia:

32
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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36MGI
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MGI Mouse Phenotypes related to Paraplegia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538610.8SPAST, SPG7, SPG20, KIF5A, KIF1A, PLP1

Publications for Paraplegia

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50PubMed
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Articles related to Paraplegia:

(show top 50)    (show all 999)
idTitleAuthorsYear
1
A case of paraplegia post treatment for acute coronary syndrome. (23571403)
2013
2
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. (23664120)
2013
3
Multifocal skeletal tuberculosis presenting as paraplegia: A case report. (23963266)
2013
4
Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12. (23857908)
2013
5
Shoulder load during synchronous handcycling and handrim wheelchair propulsion in persons with paraplegia. (22367531)
2012
6
Distal aortic perfusion during thoracoabdominal aneurysm repair for prevention of paraplegia. (22419329)
2012
7
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes. (22552817)
2012
8
Autoreactivity against myelin basic protein in patients with chronic paraplegia. (22057439)
2012
9
Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia. (20718791)
2011
10
Endoleak type II: deceitful predictor of delayed paraplegia. (21353046)
2011
11
Differences in functioning of individuals with tetraplegia and paraplegia according to the International Classification of Functioning, Disability and Health (ICF). (21042334)
2011
12
Spastic paraplegia in 'dominant optic atrophy plus' phenotype due to OPA1 mutation. (21646330)
2011
13
A case of paraplegia following endovascular stent repair of descending thoracic aortic aneurysm. (21519517)
2011
14
Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia. (21659953)
2011
15
Acute infrarenal aortic thrombosis presenting with flaccid paraplegia. (21289558)
2011
16
Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19. (20039086)
2010
17
Motor and functional evaluation of patients with spastic paraplegia, optic atrophy, and neuropathy (SPOAN). (20339643)
2010
18
Oxidised regenerated cellulose: an unusual cause of paraplegia following oesophagectomy. (20156835)
2010
19
Novel human pathological mutations. Gene symbol: SPAST. Disease: Hereditary spastic paraplegia. (20108387)
2010
20
Extramedullary hematopoiesis and paraplegia in a patient with hemoglobin e-Beta thalassemia. (20639844)
2010
21
Paraplegia following oesophagectomy. (22355297)
2010
22
Excessively high systemic blood pressure in the early phase of reperfusion exacerbates early-onset paraplegia in rabbit aortic surgery. (20537355)
2010
23
Botulinum toxin type A in the healing of a chronic buttock ulcer in a patient with spastic paraplegia after spinal cord injury. (19894009)
2009
24
AAA ATPases and hereditary spastic paraplegia]. (19504443)
2009
25
Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. (19007737)
2008
26
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. (18079167)
2008
27
Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11). (18717728)
2008
28
Hereditary spastic paraplegia with a thin corpus callosum. (17387465)
2007
29
Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia. (17098887)
2007
30
Fitness, inflammation, and the metabolic syndrome in men with paraplegia. (15954057)
2005
31
Levodopa-responsive parkinsonism in hereditary spastic paraplegia with thin corpus callosum. (15465400)
2004
32
Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection. (15164410)
2004
33
A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia. (15372247)
2004
34
Hereditary spastic paraplegia: clinical genetic study of 15 families. (15210521)
2004
35
Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene. (12552568)
2003
36
Hereditary spastic paraplegia with thin corpus callosum and cataract: a clinical description of two siblings. (12225319)
2002
37
A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14. (12499481)
2002
38
Hereditary spastic paraplegia. (12432827)
2002
39
Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias. (10417298)
1999
40
Distinct familial syndrome of severe to profound mental retardation, spastic paraplegia with contrasting axial hypotonia, short stature and distinct craniofacial appearance with nasal hypoplasia. (9555588)
1998
41
Family with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia and a nonsense mutation in exon 6 of the proteolipid protein gene. (9268109)
1997
42
Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia. (8780101)
1996
43
Hereditary spastic paraplegia and Evans's syndrome. (8819560)
1996
44
Novel nonsense proteolipid protein gene mutation as a cause of X-linked spastic paraplegia in twin males. (7488049)
1995
45
X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. (8012387)
1994
46
Acute spinal cord ischemia: prevention of paraplegia with verapamil. (2427251)
1986
47
Hereditary spastic paraplegia. (6659558)
1983
48
Paraplegia and quadriplegia in the elderly due to spinal cord lesions: association with malignancy. (7204805)
1981
49
Spinal somatosensory evoked potentials in hereditary spastic paraplegia. (7229648)
1981
50
Paraplegia and secondary amyloidosis; report of six cases. (13065321)
1953

Genetic Variations for Paraplegia

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Expression for genes affiliated with Paraplegia

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1BioGPS, 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 to membraneGO:01602110.8NIPA1, ATL1, AFG3L2, CYP2U1, PLP1, ERLIN2
2midbodyGO:03049610.3SPAST, SPG20, ZFYVE26

Biological processes related to Paraplegia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:00821911.1SPG21, PLP1, ZFYVE26, CYP2U1, AFG3L2, ATL1
2protein catabolic processGO:03016310.5SPG7, AFG3L2
3axonogenesisGO:00740910.5ATL1, AFG3L2, SPAST
4anterograde axon cargo transportGO:00808910.3SPG7, KIF1A

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, KIF5A, KIF1A
3unfolded protein bindingGO:05108210.5SPG7, AFG3L2, HSPD1

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet