Corticosterone methyloxidase deficiency is a rare genetic condition characterized by the body’s inability to convert corticosterone to aldosterone, leading to high levels of corticosterone in the blood and low levels of aldosterone. This condition is also known as CMO deficiency…
Distal arthrogryposis type 1, also known as DAS1, is a rare genetic condition characterized by muscle weakness and joint stiffness in the hands. It is inherited in an autosomal dominant pattern, meaning that an affected individual has a 50% chance…
Bladder cancer is a condition that affects the tissue of the bladder, a hollow organ in the lower abdomen. It is the sixth most common cancer diagnosed in the United States, with around 83,730 new cases expected to be diagnosed…
Benign essential blepharospasm (BEB) is a rare condition characterized by involuntary contractions of the eyelid muscles. It is classified as a primary, focal dystonia, meaning that the symptoms are limited to a specific area of the body. The exact causes…
Genes are the basic units of heredity that carry information from one generation to the next. They are made up of segments of DNA, which is found in the nucleus of cells. However, not all genes are found in the…
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…
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…
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…
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…
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…