Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL) is a rare genetic condition characterized by the appearance of subcortical infarcts and leukoencephalopathy. It is an autosomal recessive disease, meaning both parents must pass on a copy of the…
Ophthalmo-acromelic syndrome is a rare condition characterized by anophthalmia, which is the absence of one or both eyes. Additional features of this syndrome include abnormalities in limb development, such as shortened or missing limbs. The frequency of this syndrome in…
The ETFDH gene is responsible for encoding the electron transfer flavoprotein dehydrogenase enzyme. This enzyme plays a crucial role in the metabolism of various fatty acids, amino acids, and choline. Mutations or changes in the ETFDH gene can lead to…
The CARD11 gene, also known as caspase recruitment domain family member 11, plays a crucial role in the immune system, particularly in B-cell development and normal immune responses. Mutations in this gene can lead to a gain-of-function condition called CARD11-associated…
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare genetic condition characterized by abnormal blood vessels, called telangiectasias, that form in various organs throughout the body. The condition is associated with an increased risk of bleeding and…
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…
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…
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,…
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…