The HGSNAT gene is associated with mucopolysaccharidosis III, a rare genetic disorder. Mucopolysaccharidosis III, also known as Sanfilippo syndrome, is a spectrum of conditions that affect the breakdown of long chains of sugar molecules called glycosaminoglycans (GAGs). This gene provides…
ENPP1 gene, also known as pyrophosphatase/phosphodiesterase 1, is a gene that plays a crucial role in controlling calcium levels in the body. Mutations in the ENPP1 gene can cause a variety of disorders and diseases, including generalized arterial calcification of…
The ALS2 gene is a genetic factor that is associated with a variety of movement-related diseases, particularly Amyotrophic Lateral Sclerosis (ALS) and Infantile-Onset Ascending Hereditary Spastic Paralysis (IAHSP). This gene, also known as ALSIN, is listed in various databases and…
The SCNN1G gene, also known as the gamma subunit of the epithelial sodium channel gene, is one of the genes involved in pseudohypoaldosteronism type 1 (PHA1). SCNN1G is a gene that provides instructions for making a protein called the gamma…
Melnick-Needles syndrome is a rare genetic disorder characterized by skeletal abnormalities. This condition is associated with X-linked inheritance, meaning it primarily affects males. It was first described in the scientific literature in 1966 by Melnick and Needles. Additional cases have…
The WASHC5 gene, also known as SPG 8 gene, is a variant of the WASH complex subunit 5 gene. It has been found to cause a type of dominant hereditary spastic paraplegia, known as SPG8. This gene is involved in…
The MYCN gene, also known as myelocytomatosis, is a gene that is associated with various genetic syndromes and diseases. It is listed in scientific articles, databases, and registries as one of the important oncogenes. Additional viral articles and research studies…
Spondyloepiphyseal dysplasia congenita is a rare genetic condition that affects the growth of bones and connective tissues in the body. It is characterized by short stature, abnormal formation of the vertebrae, and skeletal abnormalities. This condition is congenital, meaning it…
The KIT gene, also known as c-kit, is a gene that plays a crucial role in various biological processes. It is related to a number of health conditions, including mastocytosis, leukemia, and germ cell tumors. Mutations in this gene can…
The STAMBP gene, also known as STAM-binding protein (STAMBP), is an important genetic component involved in various cellular processes and diseases. This gene plays a role in the recycling of proteins within cells and is associated with several conditions such…