The KRT83 gene, also known as the hair-specific keratin gene, is listed on various databases and resources related to genetic information and health. It has been associated with a range of conditions and diseases, including erythrokeratodermia variabilis et progressiva and…
The OPA3 gene is a scientific term used to refer to the gene that is responsible for the development of certain conditions such as optic atrophy type 3 and cataracts. These conditions are autosomal dominant, which means that only one…
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…
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 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…
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…
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…
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…
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…
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…