Down syndrome
Down syndrome, also known as trisomy 21, is a genetic condition caused by the presence of all or part of a third copy of chromosome 21. It is one of the most common genetic conditions, affecting approximately 1 in every…
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Cardiofaciocutaneous syndrome
Cardiofaciocutaneous syndrome (CFC) is a rare genetic condition that affects various systems in the body. It is one of several disorders that belongs to a group of conditions known as RASopathies, which are caused by alterations in genes that are…
RFXANK gene
The RFXANK gene is associated with a rare genetic syndrome called bare lymphocyte syndrome type II. This syndrome affects the immune system and is characterized by a lack of major histocompatibility complex class II proteins on the surface of immune…
Fragile X-associated primary ovarian insufficiency
Fragile X-associated primary ovarian insufficiency, also known as FXPOI, is a condition that affects women and is characterized by irregular menstrual cycles and reduced fertility. It is caused by a reduced or absent production of the FMRP protein, which is…
RPL5 gene
The RPL5 gene is one of the genes listed in the Online Mendelian Inheritance in Man (OMIM) database. It is a gene that plays an important role in the formation and function of ribosomes, which are essential for protein synthesis…
ZMPSTE24 gene
The ZMPSTE24 gene, also known as the zinc metalloproteinase STE24, is a gene that plays a crucial role in the maturation of a variety of proteins. This gene is located on the nuclear envelope and is involved in the processing…
Arts syndrome
Arts syndrome is a rare genetic condition that primarily affects males. It is characterized by severe sensorineural hearing loss and intellectual disability. The condition is caused by mutations in the PRS gene, which encodes the enzyme phosphoribosylpyrophosphate synthetase. Arts syndrome…
HLCS gene
The HLCS gene, also known as holocarboxylase synthetase, codes for the enzyme responsible for biotin metabolism in the body. Biotin is an essential nutrient that plays a crucial role in various bodily functions. Testing for mutations in the HLCS gene…
Deoxyguanosine kinase deficiency
Deoxyguanosine kinase deficiency, also known as dCK deficiency, is a rare genetic condition that causes neurological and hepatic abnormalities in affected individuals. It is caused by mutations in the DGUOK gene, which encodes the deoxyguanosine kinase enzyme. This enzyme is…
SCNN1B gene
The SCNN1B gene is a genet that is associated with several health conditions and syndromes. It is also known as the ENaCβ gene, and it plays a crucial role in regulating the flow of sodium ions in the body. Sodium…