KEGG   DISEASE: Nizon-Isidor syndrome
Entry
H02682                      Disease                                
Name
Nizon-Isidor syndrome
Description
Nizon-Isidor syndrome (NIZIDS) is a neurodevelopmental disorder characterized by intellectual disability and developmental delay, including speech impairment. It has been reported that mutations in MED12L cause this disease. MED12L is a subunit of the kinase module, which is one of the four subcomplexes of the mediator complex. Mediator complex is a key regulator of gene expression involved in cell growth, homeostasis, development, and differentiation.
Category
Mental and behavioural disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H02682  Nizon-Isidor syndrome
Gene
MED12L [HSA:116931] [KO:K15162]
Other DBs
ICD-11: LD90.Y
OMIM: 618872
Reference
PMID:31155615
  Authors
Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gerard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bezieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B
  Title
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
  Journal
Genet Med 21:2713-2722 (2019)
DOI:10.1038/s41436-019-0557-3
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