HRASLS5
HRASLS5: A Comprehensive Guide to a Rare Genetic Condition
Description
HRASLS5 is a rare, severe autosomal recessive neurodevelopmental disorder caused by mutations in the HRASLS5 gene. This gene encodes the HRAS-like suppressor protein 5, which plays a crucial role in cellular signaling and regulating processes such as neuronal development, synaptic plasticity, and learning and memory.
Associated Diseases
Mutations in the HRASLS5 gene have been linked to several neurodevelopmental disorders, including:
- Intellectual disability (ID): Individuals with HRASLS5 often experience severe ID, with cognitive abilities ranging from mild to profound.
- Autism spectrum disorder (ASD): Features of ASD, such as social communication difficulties and repetitive behaviors, are common in individuals with HRASLS5.
- Microcephaly: This condition is characterized by an abnormally small head circumference, often associated with intellectual disability.
- Congenital hypotonia: Reduced muscle tone (hypotonia) is a common feature of HRASLS5, affecting motor development and coordination.
- Seizures: Epileptic seizures are a frequent occurrence in individuals with HRASLS5, ranging in severity from mild to intractable.
- Behavioral problems: Hyperactivity, aggression, and sleep disturbances are common behavioral challenges faced by individuals with HRASLS5.
Did you Know ?
The prevalence of HRASLS5 is estimated to be around 1 in 1 million individuals worldwide. However, due to its rarity, the true incidence may be underdiagnosed or underreported.
