Argininosuccinic aciduria is a rare autosomal recessive disorder caused by a deficiency of the enzyme argininosuccinate lyase. It is also known as argininosuccinic acid lyase deficiency or ASL deficiency. This condition is characterized by the accumulation of argininosuccinic acid in…
Genetic conditions starting with the letter R encompass a range of disorders that affect various systems and functions in the body. These conditions can be caused by genetic mutations or abnormalities that result in deficiencies or dysregulation of certain processes.…
The TECPR2 gene, also known as the Tectonin beta-propeller repeat-containing protein 2 gene, is a type of scientific gene that is related to various genetic conditions. This gene is listed in the OMIM database and has been extensively studied in…
CHD2 myoclonic encephalopathy is a rare genetic condition that causes myoclonic seizures and other neurological signs. It is associated with mutations in the CHD2 gene, which plays a role in chromatin remodeling and nerve cell development. In affected patients, these…
Benign familial neonatal seizures (BFNS) are a rare genetic condition that affects a small percentage of infants. This scientific and clinical knowledge is supported by research studies and references from various sources, such as PubMed, OMIM, and ClinicalTrials.gov. BFNS is…
Müllerian aplasia and hyperandrogenism is a rare condition that affects women from birth. It is also known as Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, which is characterized by the absence or underdevelopment of the uterus and vagina. This condition is associated with hyperandrogenism,…
The CTSA gene is a member of a group of genes called CATHEPSIN A. CATHEPSIN A is responsible for encoding a protein called lysosomal protective protein (PPGB). The CTSA gene is found on chromosome 20 and is responsible for producing…
The NPC2 gene, also known as “niemann-pick C2” gene, plays a crucial role in the regulation of cholesterol transport within cells. Located on chromosome 14 at position q24.3, it encodes a protein involved in the movement of cholesterol from the…
Beckwith-Wiedemann syndrome, also known as BWS, is a rare genetic condition that causes abnormal growth and development of various organs in the body. It is estimated to affect about 1 in 13,700 individuals worldwide. BWS is typically associated with overgrowth…
The SPTLC1 gene, also listed as serine palmitoyltransferase long chain base subunit 1, is known to play a crucial role in the production of sphingolipids. These lipids are important for maintaining the health and functionality of nerve cells. Mutations in…