loading...| Preferred Name |
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 |
| Synonyms |
FHM2 |
| ID |
http://purl.bioontology.org/ontology/OMIM/602481 |
| altLabel |
FHM2 MIGRAINE, FAMILIAL BASILAR MHP2 |
| cui |
C1865323 C1865322 |
| Gene Locus |
1q21-q23 |
| Gene Symbol |
FHM2 MHP2 ATP1A2 DEE98 FARIMPD |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU000541 http://purl.bioontology.org/ontology/OMIM/MTHU036651 http://purl.bioontology.org/ontology/OMIM/MTHU036833 http://purl.bioontology.org/ontology/OMIM/MTHU005425 http://purl.bioontology.org/ontology/OMIM/MTHU000544 http://purl.bioontology.org/ontology/OMIM/MTHU036930 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU005423 http://purl.bioontology.org/ontology/OMIM/MTHU005439 http://purl.bioontology.org/ontology/OMIM/MTHU005429 http://purl.bioontology.org/ontology/OMIM/MTHU005427 http://purl.bioontology.org/ontology/OMIM/MTHU000242 http://purl.bioontology.org/ontology/OMIM/MTHU002540 http://purl.bioontology.org/ontology/OMIM/MTHU036834 http://purl.bioontology.org/ontology/OMIM/MTHU000543 http://purl.bioontology.org/ontology/OMIM/MTHU005418 http://purl.bioontology.org/ontology/OMIM/MTHU005426 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
602481 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
MIGRAINE, FAMILIAL HEMIPLEGIC, 2 |
| Scope Statement |
Neurologic signs last hours to days [MISCELLANEOUS] Highly variable frequency and duration of episodes [MISCELLANEOUS] Genetic heterogeneity (see FHM1 141500 and MGR6 607516) [MISCELLANEOUS] Headaches last hours to days [MISCELLANEOUS] Alternating hemiplegia of childhood (104290) is an allelic disorder with an overlapping phenotype [MISCELLANEOUS] Reduced penetrance (approximately 87%) [MISCELLANEOUS] Episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat [MISCELLANEOUS] Onset 6 to 30 years [MISCELLANEOUS] Caused by mutation in the ATPase, Na+K+ transporting, alpha-2 polypeptide gene (ATP1A2, 182340.0001) [MOLECULAR BASIS] |
| tui |
T047 |