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

ONTOLOGY REPORT - ANNOTATIONS


Term:progressive myoclonus epilepsy
go back to main search page
Accession:DOID:891 term browser browse the term
Definition:A heterogeneous group of primarily familial disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME.
Synonyms:exact_synonym: Biotin Responsive Encephalopathy;   Biotin-Responsive Encephalopathies;   Familial Progressive Myoclonic Epilepsy;   May White syndrome;   NOD;   PME;   atypical inclusion body disease;   atypical inclusion-body diseases;   progressive myoclonic epilepsies;   progressive myoclonic epilepsy;   progressive myoclonus epilepsies
 narrow_synonym: NEURONAL CEROID-LIPOFUSCINOSIS, DOMINANT/RECESSIVE;   NEURONAL CEROID-LIPOFUSCINOSIS, RECESSIVE;   progressive myoclonic epilepsy, X-linked
 primary_id: MESH:D020191
 alt_id: OMIM:310370
 xref: GARD:7140;   OMIM:PS254800
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
progressive myoclonus epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABHD18 abhydrolase domain containing 18 JBrowse link 4 131,439,603 131,509,386 RGD:9068941
G ADSL adenylosuccinate lyase JBrowse link 22 39,068,864 39,090,418 RGD:9068941
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 JBrowse link 18 17,062,250 17,109,400 RGD:9068941
G AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 JBrowse link 21 43,420,398 43,540,453 RGD:9068941
G ATN1 atrophin 1 JBrowse link 12 6,978,414 6,986,944 RGD:9068941
G CBS cystathionine beta-synthase JBrowse link 21 42,670,530 42,693,300 RGD:9068941
G CERS1 ceramide synthase 1 JBrowse link 19 19,315,848 19,342,482 RGD:9068941
G CHD2 chromodomain helicase DNA binding protein 2 JBrowse link 15 90,780,220 90,906,863 RGD:9068941
G CLN5 CLN5 intracellular trafficking protein JBrowse link 13 77,253,203 77,263,759 RGD:9068941
G CLN6 CLN6 transmembrane ER protein JBrowse link 15 65,425,472 65,436,699 RGD:9068941
G CSTB cystatin B JBrowse link 21 43,329,002 43,343,874 RGD:9068941
G CTSD cathepsin D JBrowse link 11 1,821,442 1,832,970 RGD:9068941
G DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 JBrowse link 20 61,848,236 61,856,265 RGD:9068941
G EPM2A EPM2A glucan phosphatase, laforin JBrowse link 6 148,133,563 148,238,519 RGD:9068941
G FBXL3 F-box and leucine rich repeat protein 3 JBrowse link 13 77,266,496 77,283,651 RGD:9068941
G GATD3A glutamine amidotransferase like class 1 domain containing 3A JBrowse link 21 43,687,464 43,699,536 RGD:9068941
G GOSR2 golgi SNAP receptor complex member 2 JBrowse link 17 10,715,176 10,759,013 RGD:9068941
G HSF2BP heat shock transcription factor 2 binding protein JBrowse link 21 43,088,011 43,214,760 RGD:9068941
G KCNC1 potassium voltage-gated channel subfamily C member 1 JBrowse link 11 17,472,061 17,519,214 RGD:9068941
G KCTD7 potassium channel tetramerization domain containing 7 JBrowse link 7 73,687,965 73,697,728 RGD:9068941
G LMNB2 lamin B2 JBrowse link 19 2,406,296 2,430,568 RGD:9068941
G MFSD8 major facilitator superfamily domain containing 8 JBrowse link 4 131,391,361 131,439,590 RGD:9068941
G NDUFV3 NADH:ubiquinone oxidoreductase subunit V3 JBrowse link 21 42,516,295 42,531,750 RGD:9068941
G NEU1 neuraminidase 1 JBrowse link 6 32,409,217 32,412,971 RGD:9068941
G NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 JBrowse link 6 18,321,603 18,322,965 RGD:9068941
G OPTN optineurin JBrowse link 10 13,077,345 13,115,773 RGD:9068941
G PDE9A phosphodiesterase 9A JBrowse link 21 42,275,697 42,398,681 RGD:9068941
G PDXK pyridoxal kinase JBrowse link 21 43,276,660 43,319,866 RGD:9068941
G PKNOX1 PBX/knotted 1 homeobox 1 JBrowse link 21 42,621,832 42,650,818 RGD:9068941
G PPT1 palmitoyl-protein thioesterase 1 JBrowse link 1 40,683,841 40,708,609 RGD:9068941
G PRDM8 PR/SET domain 8 JBrowse link 4 49,838,610 49,861,862 RGD:9068941
G PRICKLE2 prickle planar cell polarity protein 2 JBrowse link 3 65,374,853 65,723,643 RGD:9068941
G PRNP prion protein JBrowse link 20 4,523,141 4,525,522 RGD:9068941
G PWP2 PWP2 small subunit processome component JBrowse link 21 43,660,425 43,685,044 RGD:9068941
G RRP1 ribosomal RNA processing 1 JBrowse link 21 43,343,784 43,358,401 RGD:9068941
G RRP1B ribosomal RNA processing 1B JBrowse link 21 43,217,516 43,251,192 RGD:9068941
G RSPH1 radial spoke head component 1 JBrowse link 21 42,098,212 42,121,610 RGD:9068941
G SACS sacsin molecular chaperone JBrowse link 13 22,936,013 22,978,366 RGD:9068941
G SCARB2 scavenger receptor class B member 2 JBrowse link 4 53,830,488 53,886,065 RGD:9068941
G SERPINI1 serpin family I member 1 JBrowse link 3 172,812,348 172,902,372 RGD:9068941
G SIK1 salt inducible kinase 1 JBrowse link 21 42,975,914 42,987,948 RGD:9068941
G SLC37A1 solute carrier family 37 member 1 JBrowse link 21 42,124,889 42,208,322 RGD:9068941
G ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 JBrowse link 1 44,409,904 44,603,658 RGD:9068941
G TBC1D24 TBC1 domain family member 24 JBrowse link 16 2,581,835 2,603,919 RGD:9068941
G TPP1 tripeptidyl peptidase 1 JBrowse link 11 6,427,516 6,434,222 RGD:9068941
G TRAPPC10 trafficking protein particle complex 10 JBrowse link 21 43,585,857 43,659,760 RGD:9068941
G TSC1 TSC complex subunit 1 JBrowse link 9 132,638,003 132,692,264 RGD:9068941
G U2AF1 U2 small nuclear RNA auxiliary factor 1 JBrowse link 21 42,707,738 42,719,086 RGD:9068941
G WDR4 WD repeat domain 4 JBrowse link 21 42,471,576 42,502,418 RGD:9068941
dentatorubral-pallidoluysian atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATN1 atrophin 1 JBrowse link 12 6,978,414 6,986,944 RGD:9068941
RGD:7240710
Lafora disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EPM2A EPM2A glucan phosphatase, laforin JBrowse link 6 148,133,563 148,238,519 RGD:7240710
RGD:9068941
G NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 JBrowse link 6 18,321,603 18,322,965 RGD:7240710
RGD:9068941
MERRF Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IL1A interleukin 1 alpha JBrowse link 2A 113,784,854 113,795,801 RGD:9068941
G IL1B interleukin 1 beta JBrowse link 2A 113,846,299 113,853,424 RGD:9068941
Progressive Myoclonic Epilepsy 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 JBrowse link 6 18,321,603 18,322,965 RGD:9068941
progressive myoclonus epilepsy 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRDM8 PR/SET domain 8 JBrowse link 4 49,838,610 49,861,862 RGD:7240710
RGD:9068941
progressive myoclonus epilepsy 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CSTB cystatin B JBrowse link 21 43,329,002 43,343,874 RGD:7240710
RGD:9068941
progressive myoclonus epilepsy 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRICKLE1 prickle planar cell polarity protein 1 JBrowse link 12 47,100,352 47,126,116 RGD:7240710
RGD:9068941
G TBC1D24 TBC1 domain family member 24 JBrowse link 16 2,581,835 2,603,919 RGD:9068941
progressive myoclonus epilepsy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCTD7 potassium channel tetramerization domain containing 7 JBrowse link 7 73,687,965 73,697,728 RGD:7240710
RGD:9068941
progressive myoclonus epilepsy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SCARB2 scavenger receptor class B member 2 JBrowse link 4 53,830,488 53,886,065 RGD:7240710
RGD:9068941
progressive myoclonus epilepsy 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GOSR2 golgi SNAP receptor complex member 2 JBrowse link 17 10,715,176 10,759,013 RGD:7240710
RGD:9068941
progressive myoclonus epilepsy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNC1 potassium voltage-gated channel subfamily C member 1 JBrowse link 11 17,472,061 17,519,214 RGD:7240710
RGD:9068941
progressive myoclonus epilepsy 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CERS1 ceramide synthase 1 JBrowse link 19 19,315,848 19,342,482 RGD:7240710
RGD:9068941
progressive myoclonus epilepsy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LMNB2 lamin B2 JBrowse link 19 2,406,296 2,430,568 RGD:7240710
RGD:9068941
spinal muscular atrophy with progressive myoclonic epilepsy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ASAH1 N-acylsphingosine amidohydrolase 1 JBrowse link 8 14,226,156 14,254,155 RGD:7240710
RGD:9068941
Unverricht-Lundborg syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CSTB cystatin B JBrowse link 21 43,329,002 43,343,874 RGD:9068941
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11950
    syndrome 4859
      electroclinical syndrome 321
        variable age at onset electroclinical syndrome 55
          progressive myoclonus epilepsy 53
            Amyotrophic Lateral Sclerosis with Polyglucosan Bodies 0
            Lafora disease 2
            MERRF Syndrome + 2
            Progressive Myoclonic Epilepsy 2B 1
            Unverricht-Lundborg syndrome + 3
            dentatorubral-pallidoluysian atrophy 1
            progressive myoclonus epilepsy 10 1
            progressive myoclonus epilepsy 3 1
            progressive myoclonus epilepsy 4 1
            progressive myoclonus epilepsy 6 1
            progressive myoclonus epilepsy 7 1
            progressive myoclonus epilepsy 8 1
            progressive myoclonus epilepsy 9 1
            spinal muscular atrophy with progressive myoclonic epilepsy 1
Path 2
Term Annotations click to browse term
  disease 11950
    disease of anatomical entity 11608
      nervous system disease 9340
        central nervous system disease 7774
          brain disease 7173
            movement disease 910
              Dyskinesias 649
                Myoclonus 88
                  Myoclonic Epilepsies 84
                    progressive myoclonus epilepsy 53
                      Amyotrophic Lateral Sclerosis with Polyglucosan Bodies 0
                      Lafora disease 2
                      MERRF Syndrome + 2
                      Progressive Myoclonic Epilepsy 2B 1
                      Unverricht-Lundborg syndrome + 3
                      dentatorubral-pallidoluysian atrophy 1
                      progressive myoclonus epilepsy 10 1
                      progressive myoclonus epilepsy 3 1
                      progressive myoclonus epilepsy 4 1
                      progressive myoclonus epilepsy 6 1
                      progressive myoclonus epilepsy 7 1
                      progressive myoclonus epilepsy 8 1
                      progressive myoclonus epilepsy 9 1
                      spinal muscular atrophy with progressive myoclonic epilepsy 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.