KEGG DISEASE: Neurodevelopmental disorder with or without autism or seizures

KEGG

DISEASE: Neurodevelopmental disorder with or without autism or seizures

Entry

H02864                      Disease

Name

Neurodevelopmental disorder with or without autism or seizures

Supergrp

Neurodevelopmental disorder with defects of ubiquitin-proteasome system [DS:H02715]

Description

Neurodevelopmental disorder with or without autism or seizures (NEDAUS) is caused by heterozygous mutations in the CUL3 gene, which encodes a core component of the ubiquitin E3 ligase complex. Recent studies have identified CUL3 mutations as significant contributors to autism spectrum disorder (ASD).

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H02864  Neurodevelopmental disorder with or without autism or seizures
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06541  Cytoskeleton in neurons
   H02864  Neurodevelopmental disorder with or without autism or seizures

Pathway

Ubiquitin mediated proteolysis

Network

nt06541 Cytoskeleton in neurons

Gene

CUL3 [HSA:8452] [KO:K03869]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Dong Z, Chen W, Chen C, Wang H, Cui W, Tan Z, Robinson H, Gao N, Luo B, Zhang L, Zhao K, Xiong WC, Mei L

Title

CUL3 Deficiency Causes Social Deficits and Anxiety-like Behaviors by Impairing Excitation-Inhibition Balance through the Promotion of Cap-Dependent Translation.

Journal

Neuron 105:475-490.e6 (2020)
DOI:10.1016/j.neuron.2019.10.035

Reference

Authors

Kong A, Frigge ML, Masson G, Besenbacher S, Sulem P, Magnusson G, Gudjonsson SA, Sigurdsson A, Jonasdottir A, Jonasdottir A, Wong WS, Sigurdsson G, Walters GB, Steinberg S, Helgason H, Thorleifsson G, Gudbjartsson DF, Helgason A, Magnusson OT, Thorsteinsdottir U, Stefansson K

Title

Rate of de novo mutations and the importance of father's age to disease risk.

Journal

Nature 488:471-5 (2012)
DOI:10.1038/nature11396

LinkDB

» Japanese version

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