CLN4 disease, also known as neuronal ceroid lipofuscinosis (NCL), is a rare genetic condition that affects the central nervous system. It is caused by mutations in the CLN4 gene, which leads to a buildup of lipopigments in nerve cells. The…
Distal hereditary motor neuropathy type V (dHMN-V) is a rare and unknown condition that causes progressive weakness and muscle wasting in the distal muscles of the feet and hands. It is a form of hereditary motor neuropathy (HMN) characterized by…
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) is a rare genetic disorder that affects the function of the enzyme 3-hydroxyacyl-CoA dehydrogenase. This enzyme is responsible for breaking down long-chain fatty acids for energy in the body. Patients with LCHAD deficiency have defects…
The GPR101 gene, also known as the X-LAG syndrome gene, is a genetic variant that is related to the development of certain hormonal disorders. This gene plays a crucial role in regulating the production and release of hormones in the…
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic neurodegenerative disorder characterized by the accumulation of iron in the brain, leading to progressive degeneration of the nervous system. PKAN is typically associated with mutations in the PANK2 gene, which encodes the…
Peroxiredoxin 1 (PRDX1) is a gene that encodes for a protein belonging to the peroxiredoxin family. It is involved in the antioxidant defense system and plays a role in the protection of cells from oxidative stress. PRDX1 has been found…
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a rare genetic condition that affects the white matter of the brainstem and spinal cord. It is also known as “van der Knaap disease” after the scientists who…
The HAL gene, also known as histidine ammonia-lyase, is an enzyme involved in the breakdown of histidine, an essential amino acid. This gene is of significant interest in the scientific community due to its role in various conditions and diseases.…
Guanidinoacetate methyltransferase deficiency is a rare genetic condition associated with a deficiency in the enzyme guanidinoacetate methyltransferase. This deficiency causes a buildup of guanidinoacetate, a substance that is normally converted into creatine in the body. The condition is cataloged in…
The DARS2 gene, also known as aspartyl-tRNA synthetase 2, is a gene that is involved in the synthesis of proteins. It is located on chromosome 1 and codes for an enzyme that is responsible for attaching the amino acid aspartic…