Details of Disease

General Information of Disease (ID: DISSKWBI)

Disease Name Paraplegia
Synonyms severe or complete loss of motor function in the lower extremities and lower portions of the trunk; paraplegia, lower
Definition Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord.
Disease Hierarchy
DISH9EST: Palsy
DISSKWBI: Paraplegia
Disease Identifiers
MONDO ID
MONDO_0003757
MESH ID
D010264
UMLS CUI
C0030486
MedGen ID
45323
HPO ID
HP:0010550
SNOMED CT ID
60389000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ATG7 TTLVB9Z Strong Biomarker [1]
BECN1 TT5M7LN Strong Biomarker [1]
CD6 TTMF6KC Strong Biomarker [2]
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This Disease Is Related to 13 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ALS2 OT8BAM04 Limited Genetic Variation [3]
ATL1 OTR2788Y Limited Genetic Variation [4]
KIF1A OT3JVEGV Limited Biomarker [5]
NIPA1 OT9ODC8X Limited Genetic Variation [6]
PPP3R1 OTGQNFJQ Limited Biomarker [7]
SPG21 OTMKJSYS Limited Genetic Variation [8]
CCT5 OTPZ38BT Strong Genetic Variation [9]
FOXO4 OT90X9LN Strong Biomarker [10]
NLN OTFRITPU Strong Genetic Variation [11]
PLP1 OT8CM9CX Strong Genetic Variation [12]
SPAST OTIF3AJI Strong Genetic Variation [13]
SPG7 OT8OY9ST Strong Biomarker [14]
SPG11 OTZ7LJX4 Definitive Genetic Variation [15]
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⏷ Show the Full List of 13 DOT(s)

References

1 Paraplegia increases skeletal muscle autophagy.Muscle Nerve. 2012 Nov;46(5):793-8. doi: 10.1002/mus.23423.
2 In trauma, expect the unexpected: a rare case of post-traumatic pancreatitis associated with salmonellosis and enterocolitis.BMJ Case Rep. 2018 Nov 8;2018:bcr2018226286. doi: 10.1136/bcr-2018-226286.
3 The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings.Clin Genet. 2003 Sep;64(3):210-5. doi: 10.1034/j.1399-0004.2003.00138.x.
4 Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia.J Hum Genet. 2016 Jun;61(6):571-3. doi: 10.1038/jhg.2016.6. Epub 2016 Feb 18.
5 Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia.Eur J Hum Genet. 2015 Oct;23(10):1427-30. doi: 10.1038/ejhg.2014.297. Epub 2015 Jan 14.
6 NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe.Neurogenetics. 2007 Apr;8(2):155-7. doi: 10.1007/s10048-006-0074-9. Epub 2007 Jan 5.
7 CNB-001 reduces paraplegia in rabbits following spinal cord ischemia.Neural Regen Res. 2019 Dec;14(12):2192-2198. doi: 10.4103/1673-5374.262598.
8 Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia.Am J Hum Genet. 2003 Nov;73(5):1147-56. doi: 10.1086/379522. Epub 2003 Oct 16.
9 Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia. J Med Genet. 2006 May;43(5):441-3. doi: 10.1136/jmg.2005.039230. Epub 2006 Jan 6.
10 Gene and protein expression associated with protein synthesis and breakdown in paraplegic skeletal muscle.Muscle Nerve. 2008 Apr;37(4):505-13. doi: 10.1002/mus.20976.
11 Intercostal artery management in thoracoabdominal aortic surgery: To reattach or not to reattach?.J Thorac Cardiovasc Surg. 2018 Apr;155(4):1372-1378.e1. doi: 10.1016/j.jtcvs.2017.11.072. Epub 2018 Jan 6.
12 PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations. Hum Mutat. 2008 Aug;29(8):1028-36. doi: 10.1002/humu.20758.
13 Novel and recurrent spastin mutations in a large series of SPG4 Italian families.Neurosci Lett. 2012 Oct 18;528(1):42-5. doi: 10.1016/j.neulet.2012.08.036. Epub 2012 Aug 25.
14 Molecular and functional analyses of the human and mouse genes encoding AFG3L1, a mitochondrial metalloprotease homologous to the human spastic paraplegia protein.Genomics. 2001 Aug;76(1-3):58-65. doi: 10.1006/geno.2001.6560.
15 Kjellin syndrome: long-term neuro-ophthalmologic follow-up and novel mutations in the SPG11 gene.Ophthalmology. 2011 Mar;118(3):564-73. doi: 10.1016/j.ophtha.2010.07.024. Epub 2010 Oct 29.