Acute promyelocytic leukemia (APL) is a rare subtype of acute myeloid leukemia (AML) characterized by the fusion of certain genes, resulting in the production of a protein called promyelocytic. This condition is associated with a number of genetic and clinical…
The HLA-DQB1 gene is a complex genetic locus that encodes proteins involved in the immune system. It is composed of variations that can have significant impacts on an individual’s health and susceptibility to certain genetic conditions. One such condition is…
Microcephaly-capillary malformation syndrome, also known as “M-CM”, is a rare genetic condition that affects various aspects of a patient’s health. It is characterized by the presence of microcephaly, which is an abnormally small head size, and capillary malformation, which refers…
The SLURP1 gene, also known as the SLURP-1 gene, is a gene that is related to certain diseases and changes in health. It is listed in various genetic databases, such as OMIM and Genes & Diseases, and is also included…
The ABCC8 gene, also known as the ATP-binding cassette sub-family C member 8 gene, is involved in the regulation of blood glucose levels. It is primarily associated with two conditions: maturity-onset diabetes of the young and congenital hyperinsulinism. This gene…
Hereditary Sensory and Autonomic Neuropathy Type II (HSAN II) is a rare genetic condition that causes severe sensory and autonomic neuropathies. HSAN II is also known as hereditary sensory neuropathy, type II (HSAN2A), and is associated with specific genes and…
Swyer syndrome, also known as pure gonadal dysgenesis, is a rare genetic condition that affects the development of reproductive organs in females. It is a disorder that occurs due to alterations in the chromosomes. To understand this condition better, it…
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…
The THAP1 gene, also known as DYT6, is a gene associated with the development of dystonia, a neurological condition characterized by involuntary muscle contractions. Dystonia can manifest in various regions of the body and can cause significant impairment in daily…
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…