Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:Muscle Spasticity
go back to main search page
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.


show annotations for term's descendants       view all columns           Sort by:
 
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 Kif7 kinesin family member 7 JBrowse link 1 141,434,183 141,452,592 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
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 JBrowse link 15 344,204 1,048,849 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
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
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 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 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 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
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
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 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
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 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        muscular disease 957
          Muscle Spasticity 28
            Cerebroretinal Microangiopathy with Calcifications and Cysts + 2
            Childhood-Onset Spasticity with Hyperglycinemia 1
            Diaminopentanuria 0
            Encephalopathy, Spastic Tetraparesis, and Hypogonadism 0
            Fitzsimmons Walson Mellor Syndrome 0
            Koone Rizzo Elias Syndrome 0
            Methylenetetrahydrofolate Reductase Deficiency 1
            NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY 0
            NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH 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
            Wells Jankovic Syndrome 0
            X-linked intellectual disability-psychosis-macroorchidism syndrome 1
            dystonia 9 1
            spastic ataxia + 13
            syndromic X-linked intellectual disability Turner type 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        peripheral nervous system disease 2125
          neuropathy 1948
            neuromuscular disease 1520
              muscular disease 957
                Muscle Spasticity 28
                  Cerebroretinal Microangiopathy with Calcifications and Cysts + 2
                  Childhood-Onset Spasticity with Hyperglycinemia 1
                  Diaminopentanuria 0
                  Encephalopathy, Spastic Tetraparesis, and Hypogonadism 0
                  Fitzsimmons Walson Mellor Syndrome 0
                  Koone Rizzo Elias Syndrome 0
                  Methylenetetrahydrofolate Reductase Deficiency 1
                  NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY 0
                  NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH 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
                  Wells Jankovic Syndrome 0
                  X-linked intellectual disability-psychosis-macroorchidism syndrome 1
                  dystonia 9 1
                  spastic ataxia + 13
                  syndromic X-linked intellectual disability Turner type 1
paths to the root

NHLBI Logo

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