KEGG   DISEASE: External ophthalmoplegia with rib and vertebral anomalies
Entry
H02678                      Disease                                
Name
External ophthalmoplegia with rib and vertebral anomalies
Description
External ophthalmoplegia with rib and vertebral anomalies (EORVA) is characterized by congenital ophthalmoplegia with scoliosis and vertebral and rib anomalies. It has been reported that loss-of-function mutations in MYF5 cause this disease. MYF5 is member of the Myc-like basic helix-loop-helix transcription factor family and is a key regulator of early stages of myogenesis.
Category
Musculoskeletal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Diseases of neuromuscular junction or muscle
   Primary disorders of muscles
    8C72  Congenital myopathies
     H02678  External ophthalmoplegia with rib and vertebral anomalies
Gene
MYF5 [HSA:4617] [KO:K18484]
Other DBs
ICD-11: 8C72.0Y
OMIM: 618155
Reference
PMID:29887215
  Authors
Di Gioia SA, Shaaban S, Tuysuz B, Elcioglu NH, Chan WM, Robson CD, Ecklund K, Gilette NM, Hamzaoglu A, Tayfun GA, Traboulsi EI, Engle EC
  Title
Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies.
  Journal
Am J Hum Genet 103:115-124 (2018)
DOI:10.1016/j.ajhg.2018.05.003
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