Van den Ende-Gupta syndrome is a rare genetic disorder characterized by intellectual disability, seizures, and facial dysmorphism. It is caused by a mutation in the GNAO1 gene, which is responsible for the production of a protein involved in neuronal signaling. Symptoms of the disorder can include delayed development, intellectual disability, seizures, facial dysmorphism, and hypotonia.

The symptoms of Van den Ende-Gupta syndrome vary from person to person, but may include:

-Developmental delay
-Intellectual disability
-Seizures
-Feeding difficulties
-Growth delays
-Hearing loss
-Vision problems
-Heart defects
-Abnormalities of the hands and feet
-Kidney abnormalities
-Gastrointestinal problems
-Skin abnormalities
-Behavioral problems

Van den Ende-Gupta syndrome is a rare genetic disorder caused by a mutation in the PEX1 gene. This gene is responsible for the production of a protein called peroxisome biogenesis factor 1 (PEX1). This protein is essential for the formation and functioning of peroxisomes, which are small organelles in cells that are involved in many important metabolic processes. Mutations in the PEX1 gene can lead to a decrease in the amount of functional PEX1 protein, resulting in the development of Van den Ende-Gupta syndrome.

Currently, there is no known cure for Van den Ende-Gupta syndrome. Treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, and medications to help with muscle spasms, seizures, and other symptoms. Surgery may be recommended to correct any physical deformities or to help improve mobility. Additionally, genetic counseling may be recommended to help families understand the condition and its implications.

The primary risk factor for Van den Ende-Gupta syndrome is having a parent with a mutation in the GATA2 gene. This gene mutation is inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one copy of the mutated gene from a parent to be at risk for the syndrome. Other risk factors include having a family history of the syndrome, being of Ashkenazi Jewish descent, and having a parent with a history of blood disorders.

At this time, there is no known cure or specific medications for Van den Ende-Gupta syndrome. Treatment is focused on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, and medications to help manage seizures, pain, and other symptoms.