Histiocytosis-Lymphadenopathy plus syndrome is a rare genetic disorder that affects multiple systems in the body. It is characterized by the presence of hyperpigmented skin lesions, lymphadenopathy (enlarged lymph nodes), and other clinical manifestations. This syndrome overlaps with other conditions and…
Chromosome 22 is one of the 23 pairs of chromosomes in humans. It is approximately 50 million base pairs long and contains about 500 to 600 genes. This chromosome plays a crucial role in regulating certain genetic functions, and abnormalities…
The MFSD8 gene, also known as CLN7, is a genetic condition that affects cell health and can lead to various diseases. This gene is associated with a group of rare genetic disorders called neuronal ceroid lipofuscinoses (NCL), which are characterized…
The RFX5 gene, also known as the Regulatory Factor X 5 gene, is involved in the transcriptional regulation of major histocompatibility complex (MHC) class II genes. MHC class II proteins play a critical role in the immune response by presenting…
Cantú syndrome, also known as hypertrichosis-acromegaloid facial appearance (HAFA) syndrome, is a rare genetic condition. It is a congenital syndrome, meaning it is present from birth, and is usually diagnosed in infancy or early childhood. Children with Cantú syndrome often…
Paroxysmal extreme pain disorder is a rare condition that causes episodes of severe pain in various parts of the body. It is a genetic disorder, with some gene mutations being associated with its inheritance. The disorder is so rare that…
Tietz syndrome is a very rare genetic condition that affects hearing and pigmentation. It was first described by Tietz and Pingault in 1993. The syndrome is caused by mutations in the MITF gene, which plays a role in the development…
The UVSSA gene, also known as the UV-sensitive syndrome associated gene, is an important gene associated with UV sensitivity and related diseases. It is included in various genetic databases and is listed under different names depending on the scientific source.…
Systemic scleroderma, also known as systemic sclerosis, is a rare connective tissue disease that affects the skin, blood vessels, and internal organs. It is characterized by excessive collagen deposition, leading to thickening and hardening of the tissues. The exact cause…
The SHANK3 gene is a genetic disorder associated with autism spectrum disorder and other related conditions. It is located on chromosome 22q13.3, and deletions or changes in this gene have been found in individuals with autism and other neurodevelopmental disorders.…