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ONTOLOGY REPORT - ANNOTATIONS


Term:Muscle Spasticity
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Accession:DOID:9007428 term browser browse the term
Definition:A form of muscle hypertonia associated with upper MOTOR NEURON DISEASE. Resistance to passive stretch of a spastic muscle results in minimal initial resistance (a 'free interval') followed by an incremental increase in muscle tone. Tone increases in proportion to the velocity of stretch. Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS. (From Adams et al., Principles of Neurology, 6th ed, p54)
Synonyms:exact_synonym: Clasp Knife Spasticity;   Spastic
 primary_id: MESH:D009128;   RDO:0002341
For additional species annotation, visit the Alliance of Genome Resources.


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Muscle Spasticity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adra2a adrenoceptor alpha 2A JBrowse link 1 274,766,283 274,769,083 RGD:6480106
G Cnr1 cannabinoid receptor 1 JBrowse link 5 49,307,584 49,333,064 RGD:11554173
G Crebbp CREB binding protein JBrowse link 10 11,590,994 11,721,039 RGD:8554872
G Pmp22 peripheral myelin protein 22 JBrowse link 10 49,538,588 49,568,583 RGD:8554872
G Reep1 receptor accessory protein 1 JBrowse link 4 99,618,622 99,735,329 RGD:8554872
G Spast spastin JBrowse link 6 22,230,067 22,282,166 RGD:8554872
G Stxbp1 syntaxin binding protein 1 JBrowse link 3 11,823,779 11,885,479 RGD:8554872
Cerebroretinal Microangiopathy with Calcifications and Cysts term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctc1 CST telomere replication complex component 1 JBrowse link 10 55,596,172 55,616,873 RGD:8554872
RGD:11554173
G Stn1 STN1 subunit of CST complex JBrowse link 1 267,281,786 267,315,714 RGD:11554173
Cerebroretinal Microangiopathy with Calcifications and Cysts 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctc1 CST telomere replication complex component 1 JBrowse link 10 55,596,172 55,616,873 RGD:7240710
RGD:8554872
G Pfas phosphoribosylformylglycinamidine synthase JBrowse link 10 55,571,881 55,593,384 RGD:8554872
Cerebroretinal Microangiopathy with Calcifications and Cysts 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Stn1 STN1 subunit of CST complex JBrowse link 1 267,281,786 267,315,714 RGD:8554872
RGD:7240710
Charlevoix-Saguenay spastic ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankfy1 ankyrin repeat and FYVE domain containing 1 JBrowse link 10 59,259,955 59,331,669 RGD:13592920
G Sacs sacsin molecular chaperone JBrowse link 15 41,448,078 41,530,412 RGD:7240710
RGD:8554872
G Sgcg sarcoglycan, gamma JBrowse link 15 41,549,330 41,595,275 RGD:8554872
Childhood-Onset Spasticity with Hyperglycinemia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glrx5 glutaredoxin 5 JBrowse link 6 128,750,503 128,760,880 RGD:8554872
RGD:7240710
dystonia 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc2a1 solute carrier family 2 member 1 JBrowse link 5 138,154,677 138,182,897 RGD:7240710
RGD:8554872
RGD:12879478
Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eif2ak1 eukaryotic translation initiation factor 2 alpha kinase 1 JBrowse link 12 12,749,026 12,782,078 RGD:8554872
RGD:7240710
Methylenetetrahydrofolate Reductase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mthfr methylenetetrahydrofolate reductase JBrowse link 5 164,844,642 164,864,360 RGD:7240710
RGD:8554872
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ints8 integrator complex subunit 8 JBrowse link 5 24,446,002 24,493,819 RGD:8554872
RGD:7240710
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trappc4 trafficking protein particle complex 4 JBrowse link 8 48,723,755 48,727,182 RGD:8554872
RGD:7240710
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmx2 thioredoxin-related transmembrane protein 2 JBrowse link 3 72,073,429 72,081,079 RGD:8554872
RGD:7240710
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ufc1 ubiquitin-fold modifier conjugating enzyme 1 JBrowse link 13 89,661,763 89,668,513 RGD:8554872
RGD:7240710
spastic ataxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 JBrowse link 18 63,141,418 63,185,510 RGD:11532672
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:8554872
G Hars1 histidyl-tRNA synthetase 1 JBrowse link 18 29,611,545 29,629,087 RGD:8554872
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 JBrowse link 10 57,309,722 57,322,140 RGD:8554872
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 JBrowse link 15 344,204 1,048,849 RGD:8554872
G Kif1c kinesin family member 1C JBrowse link 10 57,322,259 57,352,395 RGD:8554872
spastic ataxia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tapbpl TAP binding protein-like JBrowse link 4 157,735,748 157,743,199 RGD:8554872
G Vamp1 vesicle-associated membrane protein 1 JBrowse link 4 157,726,941 157,733,644 RGD:7240710
RGD:8554872
spastic ataxia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Camta2 calmodulin binding transcription activator 2 JBrowse link 10 57,291,192 57,309,638 RGD:8554872
G Chrne cholinergic receptor nicotinic epsilon subunit JBrowse link 10 57,238,960 57,246,750 RGD:8554872
G Eno3 enolase 3 JBrowse link 10 57,278,271 57,283,661 RGD:8554872
G Gp1ba glycoprotein Ib platelet subunit alpha JBrowse link 10 57,260,680 57,263,546 RGD:8554872
G Inca1 inhibitor of CDK, cyclin A1 interacting protein 1 JBrowse link 10 57,309,722 57,322,140 RGD:8554872
G Kif1c kinesin family member 1C JBrowse link 10 57,322,259 57,352,395 RGD:7240710
RGD:8554872
G LOC687707 hypothetical protein LOC687707 JBrowse link 10 57,239,993 57,240,948 RGD:8554872
G Pfn1 profilin 1 JBrowse link 10 57,273,003 57,275,708 RGD:8554872
G Rnf167 ring finger protein 167 JBrowse link 10 57,268,331 57,272,667 RGD:8554872
G Slc25a11 solute carrier family 25 member 11 JBrowse link 10 57,265,903 57,268,018 RGD:8554872
G Spag7 sperm associated antigen 7 JBrowse link 10 57,284,989 57,291,146 RGD:8554872
spastic ataxia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mars2 methionyl-tRNA synthetase 2, mitochondrial JBrowse link 9 64,434,814 64,437,730 RGD:7240710
RGD:8554872
G Sacs sacsin molecular chaperone JBrowse link 15 41,448,078 41,530,412 RGD:8554872
spastic ataxia 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mtpap mitochondrial poly(A) polymerase JBrowse link 17 56,046,507 56,068,185 RGD:7240710
RGD:8554872
spastic ataxia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 JBrowse link 18 63,141,418 63,185,510 RGD:7240710
RGD:8554872
spastic ataxia 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nkx6-2 NK6 homeobox 2 JBrowse link 1 211,922,389 211,923,929 RGD:7240710
RGD:8554872
Spastic Ataxia 9, Autosomal Recessive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chp1 calcineurin-like EF-hand protein 1 JBrowse link 3 111,354,506 111,389,998 RGD:7240710
syndromic X-linked intellectual disability Turner type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atrx ATRX, chromatin remodeler JBrowse link X 76,820,110 76,979,155 RGD:8554872
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 JBrowse link X 21,474,627 21,603,348 RGD:8554872
RGD:7240710
Webb-Dattani Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arnt2 aryl hydrocarbon receptor nuclear translocator 2 JBrowse link 1 146,399,217 146,556,437 RGD:8554872
RGD:7240710
X-linked intellectual disability-psychosis-macroorchidism syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      musculoskeletal system disease 5541
        muscular disease 1129
          Muscle Spasticity 46
            Cerebroretinal Microangiopathy with Calcifications and Cysts + 3
            Childhood-Onset Spasticity with Hyperglycinemia 1
            Diaminopentanuria 0
            Encephalopathy, Spastic Tetraparesis, and Hypogonadism 0
            Fitzsimmons Walson Mellor Syndrome 0
            Koone Rizzo Elias Syndrome 0
            Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome 1
            Methylenetetrahydrofolate Reductase Deficiency 1
            NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY 1
            NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY 1
            NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH 1
            Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity 1
            Opticocochleodentate Degeneration 0
            Powell Venencie Gordon syndrome 0
            Seemanova Lesny Syndrome 0
            Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration 0
            Spastic Ataxia with Congenital Miosis 0
            Webb-Dattani Syndrome 1
            Wells Jankovic Syndrome 0
            X-linked intellectual disability-psychosis-macroorchidism syndrome 1
            dystonia 9 1
            spastic ataxia + 24
            syndromic X-linked intellectual disability Turner type 2
Path 2
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      nervous system disease 10770
        peripheral nervous system disease 2368
          neuropathy 2184
            neuromuscular disease 1718
              muscular disease 1129
                Muscle Spasticity 46
                  Cerebroretinal Microangiopathy with Calcifications and Cysts + 3
                  Childhood-Onset Spasticity with Hyperglycinemia 1
                  Diaminopentanuria 0
                  Encephalopathy, Spastic Tetraparesis, and Hypogonadism 0
                  Fitzsimmons Walson Mellor Syndrome 0
                  Koone Rizzo Elias Syndrome 0
                  Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome 1
                  Methylenetetrahydrofolate Reductase Deficiency 1
                  NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY 1
                  NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY 1
                  NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH 1
                  Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity 1
                  Opticocochleodentate Degeneration 0
                  Powell Venencie Gordon syndrome 0
                  Seemanova Lesny Syndrome 0
                  Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration 0
                  Spastic Ataxia with Congenital Miosis 0
                  Webb-Dattani Syndrome 1
                  Wells Jankovic Syndrome 0
                  X-linked intellectual disability-psychosis-macroorchidism syndrome 1
                  dystonia 9 1
                  spastic ataxia + 24
                  syndromic X-linked intellectual disability Turner type 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.