KEGG   DISEASE: Polyhydramnios, megalencephaly, and symptomatic epilepsy
Entry
H01112                      Disease                                
Name
Polyhydramnios, megalencephaly, and symptomatic epilepsy;
PMSE syndrome
Description
Polyhydramnios, megalencephaly, symptomatic epilepsy (PMSE) is a severe human developmental and epileptic syndrome caused by a homozygous partial deletion in the STRAD-alpha gene (LYK5), truncating 180 C-terminal residues of the protein. Individuals affected by this condition suffer from severe mental retardation, gross movement disorders, and childhood mortality. Severe intractable epilepsy and megalencephaly are characteristic.
Category
Congenital malformation
Brite
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06522  mTOR signaling
   H01112  Polyhydramnios, megalencephaly, and symptomatic epilepsy
Pathway
hsa04152  AMPK signaling pathway
hsa04150  mTOR signaling pathway
Network
nt06522 mTOR signaling
Gene
STRADA [HSA:92335] [KO:K08271]
Other DBs
MeSH: C567020
OMIM: 611087
Reference
PMID:21263450
  Authors
Goodarzi MO, Dumesic DA, Chazenbalk G, Azziz R
  Title
Polycystic ovary syndrome: etiology, pathogenesis and diagnosis.
  Journal
Nat Rev Endocrinol 7:219-31 (2011)
DOI:10.1038/nrendo.2010.217
Reference
PMID:33605605 (STRADA)
  Authors
Aerden M, Vallaeys L, Holvoet M, De Waele L, Van Den Bogaert K, Devriendt K
  Title
Homozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndrome.
  Journal
Clin Dysmorphol 30:121-124 (2021)
DOI:10.1097/MCD.0000000000000368
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