Acral peeling skin syndrome (APSS) is a rare genetic condition characterized by peeling of the skin on the palms and soles of the feet. This article provides information on the symptoms, frequency, and genetic resources for APSS. APSS is a…
Spinocerebellar ataxia type 6 (SCA6) is a rare genetic condition that affects coordination and movement. It falls within a group of inherited disorders known as spinocerebellar ataxias, which are characterized by progressive degeneration of the cerebellum and spinal cord. SCA6…
X-linked infantile spinal muscular atrophy, also known as X-linked spinal muscular atrophy type 2 (XLSMA2), is a rare genetic condition that affects the nerves in the spinal cord. This condition is caused by a mutation in the gene associated with…
Pharmacogenomics is a branch of genomic research that focuses on how a person’s genetic makeup affects their response to drugs. It combines the fields of pharmacology (the study of drugs) and genomics (the study of genes and their functions) to…
The PRODH gene, also known as “pulver-one deletion-on-chromosome” (PDOC) gene, is a scientific name for a gene associated with various changes in the proline dehydrogenase (PRODH) protein. This gene is listed in the Pubmed database and provides information on genetic…
The ASAH1 gene, also known as acid ceramidase gene, is a gene that encodes for the enzyme acid ceramidase. This enzyme is typically found in lysosomes and is responsible for breaking down ceramides, which are fatty acids that play a…
Adenylosuccinate lyase deficiency, also known as ADSL deficiency, is a rare genetic condition that affects the human body. It is caused by a deficiency of the adenylosuccinate lyase (ADSL) enzyme, which converts adenylosuccinate to AMP (adenosine monophosphate) and fumarate. ADSL…
The HAMP gene, also known as the Hepcidin Antimicrobial Peptide gene, is a genetic gene associated with a variety of conditions and diseases. It plays a crucial role in regulating iron levels in the body. Mutations in this gene can…
Crouzon syndrome with acanthosis nigricans, also known as crouzonodermoskeletal syndrome, is a rare genetic condition characterized by the abnormal growth of the skull, facial features, and skin. This condition is caused by mutations in the FGFR3 gene, which is involved…
In the vast and complex study of genetics, there is one chapter that stands out: the gene. Genes are the building blocks of life, found in every living organism on Earth. They are segments of DNA that contain the unique…