familial hemiplegic migraine 1

Summary
Synonym
  • FHM1
  • MHP1
  • familial hemiplegic migraine1 with progressive cerebellar ataxia
Definition
A familial hemiplegic migraine that is commonly associated with cerebellar degeneration and has_material_basis_in heterozygous mutation in CACNA1A on 19p13.
Super Class
familial hemiplegic migraine
External Links
Disease Ontology
DOID:0111181
Mondo Disease Ontology
OMIM
GARD
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
5373 PMM2 phosphomannomutase 2
5589 PRKCSH PRKCSH beta subunit of glucosidase II
Related Glycoprotein
Displaying all 2 entries
UniProt ID Protein Name Source
O15305 Phosphomannomutase 2
P14314 Glucosidase 2 subunit beta

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024