Rett Syndrome (RTT)

Alias:

Atypical Rett Syndrome

Rtt

Rett Syndrome, Preserved Speech Variant

Rett Syndrome, Atypical

Rett Syndrome Variant

Rett's Disorder

Rett Disorder

Atypical Rtt

Rts

Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome

Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use

Autism-Dementia-Ataxia-Loss of Purposeful Hand Use

Rett Syndrome Preserved Speech Variant

Rett Syndrome, Zappella Variant

Cerebroatrophic Hyperammonemia

Rett Syndrome Zappella Variant

Rett's Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Rett Syndrome, also known as atypical rett syndrome, is related to developmental and epileptic encephalopathy 2 and chromosome 16p13.3 deletion syndrome, proximal, and has symptoms including back pain, cachexia and constipation. An important gene associated with Rett Syndrome is MECP2 (Methyl-CpG Binding Protein 2), and among its related pathways/superpathways are Neuroscience and Chromatin Regulation / Acetylation. The drugs Dopamine and Risperidone have been mentioned in the context of this disorder. Affiliated tissues include brain and eye, and related phenotypes are intellectual disability and seizure

Related ID：

MALACARDS：RTT002

OMIM：312750

MESH：D015518

ICD11：201200685