Sialidosis is a rare genetic condition that affects the lysosomal enzyme neuraminidase. It is usually inherited in an autosomal recessive manner, meaning that both copies of the gene must have mutations for the condition to develop. There are two main…
Palmoplantar keratoderma with deafness (PPK-DFN) is a rare genetic condition that causes thickening of the skin on the palms and soles (palmoplantar keratoderma) along with hearing impairment (deafness). It is a hereditary disorder with a specific type of inheritance pattern…
The CLCN1 gene, also known as CLC-1, encodes a voltage-gated chloride channel. This gene is involved in the testing and regulation of nerve and muscle contractions. Mutations in the CLCN1 gene can lead to a disorder known as myotonia, which…
Myoclonus-dystonia (M-D) is a rare genetic condition characterized by involuntary muscle contractions (myoclonus) and abnormal body movements (dystonia). It was first described by Gerrits and colleagues in 1976, and since then, scientific research has shed light on its frequency, genetics,…
A gene variant is a specific version of a gene. Genes are the segments of DNA that contain the instructions for building and maintaining the cells and tissues in our bodies. Each person has two copies of each gene, one…
Anemia is a common disorder that affects the blood’s ability to carry oxygen. It can be caused by various genetic conditions, such as glucose-6-phosphate dehydrogenase deficiency, which affects the red blood cells’ ability to break down glucose for energy. Another…
The FKTN gene, also known as the fukutin gene, helps in the form of proteins that prevent muscular disorders. This gene is particularly related to a condition called Fukuyama-type muscular dystrophy, a rare genetic disorder that causes muscular weakness and…
Congenital bilateral absence of the vas deferens (CBAVD) is a rare genetic condition that causes the absence of the vas deferens, which is the duct that carries sperm from the testes to the urethra. This condition occurs in males and…
Triosephosphate isomerase deficiency is a rare genetic condition that is associated with a mutation in the gene for the enzyme triosephosphate isomerase. This condition typically causes a range of symptoms, including muscle weakness, brain abnormalities, and heart problems. It is…
Carbonic anhydrase VA deficiency is an inherited condition caused by mutations in the CA5A gene. It is associated with the mitochondrial enzyme carbonic anhydrase VA. This deficiency leads to a condition called hyperammonemia, where there is an abnormally high level…