Helsmoortel-Van Der Aa Syndrome (HVDAS)

Alias:

Hvdas

Adnp Syndrome

Mrd28

Adnp-Related Multiple Congenital Anomalies - Intellectual Disability - Autism Spectrum Disorder

Adnp-Related Syndromic Intellectual Disability-Autism Spectrum Disorder

Mental Retardation, Autosomal Dominant 28

Adnp-Related Multiple Congenital Anomalies-Intellectual Disability-Autism Spectrum Disorder

Adnp-Related Intellectual Disability and Autism Spectrum Disorder

Mental Retardation, Autosomal Dominant 28, Formerly

Autosomal Dominant Mental Retardation 28

Mrd28, Formerly

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Helsmoortel-Van Der Aa Syndrome, also known as hvdas, is related to syndromic intellectual disability and autism spectrum disorder. An important gene associated with Helsmoortel-Van Der Aa Syndrome is ADNP (Activity Dependent Neuroprotector Homeobox), and among its related pathways/superpathways are Chromatin organization and PKMTs methylate histone lysines. The drugs Ketamine and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include heart and brain, and related phenotypes are global developmental delay and delayed speech and language development

Related ID：

MALACARDS：HLS003

OMIM：615873

MESH：D008607