Dilated cardiomyopathy with ataxia syndrome (DCMA) is a rare autosomal recessive genetic condition characterized by the combination of dilated cardiomyopathy (DCM) and ataxia. It is caused by mutations in certain genes involved in the production of proteins that are essential…
Nijmegen Breakage Syndrome (NBS) is a rare genetic condition that affects the immune system and increases the risk of developing cancer. The syndrome is named after the Dutch city where it was first discovered, and it is estimated to occur…
Blepharophimosis Ptosis and Epicanthus Inversus Syndrome, also known as BPES, is a rare genetic condition that affects the eyelids. It is inherited in an autosomal dominant manner, which means that an individual only needs to inherit one copy of the…
In the world of genetics, the letter “H” is associated with a complex network of genes that play important roles in various biological processes. One such gene is hps1 (Hermansky-Pudlak Syndrome 1), which is a member of the Hermansky-Pudlak syndrome…
The LAMA3 gene is responsible for encoding the alpha-3 subunits of laminin-5, one of the proteins that form the basement membrane in various tissues. Changes in this gene can lead to the development of different conditions, including the laryngo-onycho-cutaneous (LOC)…
The POR gene, also known as cytochrome P450 oxidoreductase, is an essential molecule involved in the variation of cytochrome P450 (CYP) genes. It plays a crucial role in the metabolism and detoxification of various substances in the body. The deficiency…
Stargardt macular degeneration (SMD) is a rare and progressive genetic disease that affects the central part of the retina, called the macula. It is one of the leading causes of vision loss in children and young adults, and there is…
The HSPG2 gene, also known as perlecan, encodes a proteoglycan that is a major component of the extracellular matrix in various tissues. Mutations in the HSPG2 gene have been associated with several disorders, including Schwartz-Jampel syndrome, Urtizberea chondrodysplasia, and Yamada…
The ALG1 gene is associated with a disorder called ALG1-congenital disorder of glycosylation (ALG1-CDG). This gene is involved in the production of a protein that is required for the normal functioning of the body. Mutations in the ALG1 gene can…
The PLAGL1 gene, also known as ZAC1, is an important gene involved in various health-related functions. It is located on the pleiomorphic adenoma gene-like 1 (PLAGL1) region on chromosome 6q24. This gene plays a significant role in the regulation of…