Arterial tortuosity syndrome is a rare genetic disorder that is characterized by abnormalities in the arteries and other tissues of the body. This condition is associated with the abnormal growth and development of the arterial system, causing the arteries to…
Subcortical band heterotopia, also known as double cortex syndrome, is a rare genetic disorder characterized by the presence of an additional band of neurons located below the normal cortex. This condition is caused by mutations in certain genes associated with…
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…
Congenital mirror movement disorder, also known as “mirror movements,” is a rare genetic condition in which an individual experiences involuntary movements on one side of the body that mirror intentional movements on the opposite side. These movements typically develop in…
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…
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…
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 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…
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 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…