KEGG DISEASE: Neurodevelopmental disorder with or without seizures and gait abnormalities

KEGG

DISEASE: Neurodevelopmental disorder with or without seizures and gait abnormalities

Entry

H02888                      Disease

Name

Neurodevelopmental disorder with or without seizures and gait abnormalities

Supergrp

Neurodevelopmental disorder with glutamatergic synapse dysfunction [DS:H02705]

Description

Neurodevelopmental disorder with or without seizures and gait abnormalities (NEDSGA) is an autosomal dominant disorder characterized by intellectual disability, problems of social behavior, and other variable features. Mutations in GRIA4, encoding AMPA receptor GluR4 subunit, have been reported to cause this disorder.

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
   H02888  Neurodevelopmental disorder with or without seizures and gait abnormalities
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06544  Neuroactive ligand signaling
   H02888  Neurodevelopmental disorder with or without seizures and gait abnormalities

Pathway

Glutamatergic synapse

Neuroactive ligand signaling

Network

nt06544 Neuroactive ligand signaling

Gene

GRIA4 [HSA:2893] [KO:K05200]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Martin S, Chamberlin A, Shinde DN, Hempel M, Strom TM, Schreiber A, Johannsen J, Ousager LB, Larsen MJ, Hansen LK, Fatemi A, Cohen JS, Lemke J, Sorensen KP, Helbig KL, Lessel D, Abou Jamra R

Title

De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities.

Journal

Am J Hum Genet 101:1013-1020 (2017)
DOI:10.1016/j.ajhg.2017.11.004

LinkDB

» Japanese version

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