H01211 | |
H number | H01211 |
Name | MECP2-related severe neonatal encephalopathy |
Description | MECP2-related severe neonatal encephalopathy is a rare disorder of males characterized by a static encephalopathy, severe developmental delays, hypotonia, seizures, and respiratory abnormalities that often leads to death at an early age. Mutations in the MECP2 gene cause this disease, and females with these same mutations typically have a disorder called Rett syndrome. Most boys with this disorder have been identified because they have female siblings with Rett syndrome. |
Category | Congenital malformation |
Network | - |
Gene | MECP2 [HSA:4204] [KO:K11588] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | Rett syndrome is described in H00440. [DS:H00440] |
Other DBs | ICD-11: KB03 ICD-10: Q02 MeSH: C580273 OMIM: 300673 |
Reference | PMID:11930274 AUTHORS Geerdink N, Rotteveel JJ, Lammens M, Sistermans EA, Heikens GT, Gabreels FJ, Mullaart RA, Hamel BC TITLE MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings. JOURNAL Neuropediatrics 33:33-6 (2002) DOI:10.1055/s-2002-23598 PMID:11071498 AUTHORS Villard L, Kpebe A, Cardoso C, Chelly PJ, Tardieu PM, Fontes M TITLE Two affected boys in a Rett syndrome family: clinical and molecular findings. JOURNAL Neurology 55:1188-93 (2000) DOI:10.1212/WNL.55.8.1188 PMID:20425298 AUTHORS Gonzales ML, LaSalle JM TITLE The role of MeCP2 in brain development and neurodevelopmental disorders. JOURNAL Curr Psychiatry Rep 12:127-34 (2010) DOI:10.1007/s11920-010-0097-7 |