Genetic Conditions T
Thrombocytopenia, a condition characterized by low platelet count, is one of the genetic conditions that affect blood clotting. It can lead to…
ALDOB gene
The ALDOB gene is involved in the metabolism of fructose-1-phosphate. Variants in this gene can cause hereditary fructose intolerance, a condition in…
ASL gene
The ASL gene, also known as argininosuccinate lyase, is responsible for producing the enzyme argininosuccinate lyase. This enzyme is involved in the…
LMX1B gene
The LMX1B gene is a variant gene that provides important information for understanding and diagnosing various conditions related to the nail-patella syndrome.…
Primary carnitine deficiency
Primary carnitine deficiency is a rare genetic condition associated with problems in the uptake and transport of carnitine, a protein that helps…
HOGA1 gene
The HOGA1 gene, also known as 4-hydroxy-2-oxoglutarate aldolase 1, plays a significant role in the development and progression of hyperoxaluria. Hyperoxaluria is…
KRT10 gene
The KRT10 gene is listed as a confetti resource in the PubMed article for ichthyosis and other related disorders. This gene is…
HDAC4 gene
The HDAC4 gene, also known as Histone Deacetylases 4, is a gene that encodes a protein involved in the process of removing…
Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder that affects the development of the limbs and skull. It is inherited in…