H3F3C
h3f3c: An In-Depth Exploration of a Complex Disorder
Description
h3f3c, an acronym for haploinsufficiency of 3 genes on chromosome 3, is a rare genetic disorder that affects multiple organ systems, predominantly the brain and kidneys. It is caused by a deletion or mutation in one copy of three specific genes (DDX3X, NBEA, and ETS2) located on chromosome 3.
These genes play crucial roles in cellular development and function. Dysregulation of these genes leads to a cascade of abnormal cellular processes, ultimately affecting the development and function of the brain, kidneys, and other organs.
h3f3c is characterized by a wide range of symptoms that can vary in severity, including:
- Intellectual disability
- Speech and language delays
- Developmental delays
- Microcephaly
- Kidney problems (hydronephrosis, hydroureteronephrosis)
- Facial dysmorphism (distinctive facial features)
- Seizures
- Behavioral problems
- Hypotonia (low muscle tone)
Associated Diseases
In addition to the primary symptoms, h3f3c is associated with an increased risk of developing certain diseases, including:
- Autism spectrum disorder (ASD)
- Attention-deficit hyperactivity disorder (ADHD)
- Epilepsy
Did you Know ?
The prevalence of h3f3c is estimated to be around 1 in 28,000 individuals worldwide. However, it is likely underdiagnosed due to its rarity and the fact that it can sometimes be difficult to distinguish from other genetic disorders with similar symptoms.
