loading...| Preferred Name |
MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG |
|
| Synonyms |
EPILEPSY, PROGRESSIVE MYOCLONIC, 1A |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/254800 |
|
| altLabel |
EPILEPSY, PROGRESSIVE MYOCLONIC, 1A ULD PME BALTIC MYOCLONIC EPILEPSY EPM1A PROGRESSIVE MYOCLONIC EPILEPSY EPM1 EPILEPSY, PROGRESSIVE MYOCLONIC, 1 |
|
| cui |
C0751785 |
|
| Gene Locus |
21q22.3 |
|
| Gene Symbol |
CSTB PME STFB EPM1 ULD EPM1A |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU010911 http://purl.bioontology.org/ontology/OMIM/MTHU010910 http://purl.bioontology.org/ontology/OMIM/MTHU010913 http://purl.bioontology.org/ontology/OMIM/MTHU010918 http://purl.bioontology.org/ontology/OMIM/MTHU010915 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU010909 http://purl.bioontology.org/ontology/OMIM/MTHU010908 http://purl.bioontology.org/ontology/OMIM/MTHU010919 http://purl.bioontology.org/ontology/OMIM/MTHU010917 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU010916 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
254800 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG |
|
| Scope Statement |
High frequency in Finnish population [MISCELLANEOUS] Onset 6-13 years [MISCELLANEOUS] Three stages of disease progression - Stage 1 (subclinical), Stage 2 (early myoclonic), Stage 3 (disabling myoclonic) [MISCELLANEOUS] Caused by mutation in the cystatin B gene (CSTB, 601145.0001) [MOLECULAR BASIS] Incidence of 1 in 20,000 live births [MISCELLANEOUS] |
|
| tui |
T047 |