ONTOLOGY REPORT - ANNOTATIONS


Term:Lafora disease
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Accession:DOID:3534 term browser browse the term
Definition:A form of stimulus sensitive myoclonic epilepsy inherited as an autosomal recessive condition. The most common presenting feature is a single seizure in the second decade of life. This is followed by progressive myoclonus, myoclonic seizures, tonic-clonic seizures, focal occipital seizures, intellectual decline, and severe motor and coordination impairments. Most affected individuals do not live past the age of 25 years. Concentric amyloid (Lafora) bodies are found in neurons, liver, skin, bone, and muscle (From Menkes, Textbook of Childhood Neurology, 5th ed, pp111-110)
Synonyms:exact_synonym: EPM2A;   Epilepsy, Progressive Myoclonic 2A;   LBD;   Lafora Body Disease;   Lafora Body Disorder;   Lafora Myoclonic Epilepsy;   Lafora Progressive Myoclonic Epilepsy;   Lafora Progressive Myoclonus Epilepsy;   Lafora Type Progressive Myoclonic Epilepsy;   Lafora's disease;   Late Onset Lafora Body Disease;   MELF;   Myoclonic Epilepsy of Lafora;   Myoclonus epilepsy of Lafora;   Progressive Myoclonic Epilepsy Type 2;   epilepsy progressive myoclonic 2;   progressive myoclonus epilepsy, Lafora type
 narrow_synonym: EPM2 EPILEPSY, PROGRESSIVE MYOCLONIC, 2B;   EPM2B
 primary_id: MESH:D020192
 alt_id: OMIA:000690;   OMIM:254780;   RDO:0007336
 xref: GARD:8214
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Lafora disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Epm2a EPM2A glucan phosphatase, laforin JBrowse link 1 5,448,958 5,571,512 RGD:7240710
RGD:8554872
G Nhlrc1 NHL repeat containing E3 ubiquitin protein ligase 1 JBrowse link 17 18,059,382 18,060,572 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        neurodegenerative disease 2536
          Lafora disease 2
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        central nervous system disease 6950
          brain disease 6456
            movement disease 1006
              Dyskinesias 718
                Myoclonus 98
                  Myoclonic Epilepsies 94
                    progressive myoclonus epilepsy 61
                      Lafora disease 2
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