Leukoencephalopathy with vanishing white matter (VWM) is a rare genetic condition that affects the brain’s white matter, causing it to gradually disappear over time. This condition is also known as childhood ataxia with central nervous system hypomyelination (CACH), and it…
The SLC40A1 gene is a key player in the iron-regulated transport of iron. It is involved in various essential functions in the body, including the regulation of iron levels in tissues. This gene is associated with a hereditary condition known…
Zellweger spectrum disorder (ZSD) is a rare genetic disorder characterized by the malfunctioning of peroxisomes, small organelles found in cells. The disorder falls under the category of peroxisomal biogenesis disorders (PBDs) and is inherited in an autosomal recessive manner. ZSD…
The KCNJ2 gene is responsible for encoding the protein that forms part of a specific type of ion channel called an inward rectifying potassium channel. This channel plays a vital role in regulating the electrical activity of cells, particularly in…
The LEMD3 gene is a genetic factor that has been associated with various conditions, including Buschke-Ollendorff syndrome and osteopoikilosis. This gene is located in the nucleus of cells and is responsible for producing a protein that reduces bone density. People…
Pallister-Killian mosaic syndrome, also known as Pallister-Killian syndrome or PKS, is a rare chromosomal condition. It is caused by a mosaic pattern of chromosome changes that occur after fertilization. The syndrome is associated with a distinctive pattern of facial features,…
Nephrogenic diabetes insipidus (NDI) is a rare genetic condition that is characterized by the inability of the kidneys to concentrate urine, resulting in excessive thirst and urination. It is a form of diabetes insipidus (DI), a disease that affects the…
Rippling muscle disease is a rare genetic neuromuscular condition characterized by muscular rippling contractions that can be triggered by percussion-induced contraction or voluntary movements. It is also known as schoser-genetic muscle disease or caveolopathies. It is associated with mutations in…
Achondroplasia is a rare genetic condition characterized by short stature and other skeletal abnormalities. It is the most common cause of dwarfism, affecting approximately 1 in 15,000 to 40,000 births worldwide. The condition is inherited in an autosomal dominant manner,…
The RPE65 gene is associated with a condition known as retinitis pigmentosa (RP), which is an autosomal recessive disease that affects the retinal pigment epithelium. RP is a group of inherited eye diseases that cause degeneration of the retina, resulting…