Globozoospermia is a rare genetic condition associated with infertility in men. It is characterized by the production of spermatozoa with round heads and lack of acrosome, which is an important structure for sperm function and fertilization. This article will provide…
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.…
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…
Succinyl-CoA3-ketoacid CoA transferase deficiency is a rare genetic condition associated with severe ketosis and episodes of metabolic decompensation. It is typically caused by mutations in the gene that codes for the succinyl-CoA3-ketoacid CoA transferase enzyme, which plays a crucial role…
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…
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…
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…
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,…
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 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…