KEGG   DISEASE: Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities
Entry
H02680                      Disease                                
Name
Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities
Description
Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities (NDDRSB) is characterized by microcephaly, profound neurodevelopmental impairment, exaggerated startle response, myoclonic seizures, progressive widespread neurodegeneration, and premature death. It has been reported that mutations in MED11 cause this disease. MED11 encodes a subunit of mediator (MED) multisubunit-complex that modulates the activity of the transcriptional machinery.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD20  Syndromes with central nervous system anomalies as a major feature
    H02680  Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities
Gene
MED11 [HSA:400569] [KO:K15131]
Other DBs
ICD-11: LD20.Y
OMIM: 620327
Reference
PMID:36001086
  Authors
Cali E, Lin SJ, Rocca C, Sahin Y, Al Shamsi A, El Chehadeh S, Chaabouni M, Mankad K, Galanaki E, Efthymiou S, Sudhakar S, Athanasiou-Fragkouli A, Celik T, Narli N, Bianca S, Murphy D, De Carvalho Moreira FM, Andrea Accogli, Petree C, Huang K, Monastiri K, Edizadeh M, Nardello R, Ognibene M, De Marco P, Ruggieri M, Zara F, Striano P, Sahin Y, Al-Gazali L, Abi Warde MT, Gerard B, Zifarelli G, Beetz C, Fortuna S, Soler M, Valente EM, Varshney G, Maroofian R, Salpietro V, Houlden H
  Title
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
  Journal
Genet Med 24:2194-2203 (2022)
DOI:10.1016/j.gim.2022.07.013
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