DISEASE: Neurodevelopmental disorder with absent language and variable seizures
Entry
H03010 Disease
Name
Neurodevelopmental disorder with absent language and variable seizures
Description
Neurodevelopmental disorder with absent language and variable seizures (NEDALVS) is caused by de novo variants in WAS protein family member 1 (WASF1), which encodes WAVE1. WAVE1 is a component of the WAVE complex and functions as a mediator between Rac-GTPase and actin to promote actin polymerization. Functional studies have demonstrated that these mutations can lead to defects in actin remodeling.
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
H03010 Neurodevelopmental disorder with absent language and variable seizures
Pathway-based classification of diseases [BR:br08402]
Cellular processes
nt06549 Cadherin signaling
H03010 Neurodevelopmental disorder with absent language and variable seizures
Ito Y, Carss KJ, Duarte ST, Hartley T, Keren B, Kurian MA, Marey I, Charles P, Mendonca C, Nava C, Pfundt R, Sanchis-Juan A, van Bokhoven H, van Essen A, van Ravenswaaij-Arts C, Boycott KM, Kernohan KD, Dyack S, Raymond FL
Title
De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.
