H01112 | |
H number | H01112 |
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 |
Network | nt06522(H01112) mTOR signaling |
Gene | STRADA [HSA:92335] [KO:K08271] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
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 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 |