Li-Fraumeni syndrome in an inherited predisposition to a range of cancers due to a mutation in the tumor suppressor gene TP53. The diagnosis is made if cancer occurs at a young age and there is also a family history of sarcoma or cancer at a young age. Find the latest research on Li-Fraumeni syndrome here.
22q11.2 deletion syndrome, also known as DiGeorge syndrome, is a congenital disorder caused by a partial deletion of chromosome 22. Symptoms include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development. Discover the latest research on this disease here.
4H Leukodystrophy involves hypomyelination with hypogonadotropic hypogonadism and hypodontia. It is also known as POLR-3 Related Leukodystrophy. 4H syndrome symptoms include delayed or abnormal puberty, issues with central nervous system signal transmission, abnormal development of teeth, and symptoms tend to progressively get worse over time. Here is the latest research on this disease.
Adenomatous polyposis coli is a protein encoded by the APC gene and acts as a tumor suppressor. Discover the latest research on adenomatous polyposis coli here.
Adult polyglucosan body disease (APBD) is a rare autosomal recessive disease characterized by defects in the glycogen brancher enzyme 1 (GBE1) gene. Discover the latest research on APBD here.
Amyotrophic Lateral Sclerosis (ALS) is a progressive nervous system disease associated with the death of neurons that control voluntary muscles. Discover the latest research on ALS here.
Angelman syndrome is a neurogenetic imprinting disorder caused by loss of the maternally inherited UBE3A gene and is characterized by generalized epilepsy, limited expressive speech, sleep dysfunction, and movement disorders. Here is the latest research.
Bullous pemphigoid is a rare immune system disorder and skin condition that causes large, fluid-filled blisters. Bullous pemphigoid commonly affects older adults and appears in areas such as the lower abdomen, upper thighs or armpits. Discover the latest research on bullous pemphigoid here.
Congenital, Lipomatous, Overgrowth, Vascular Malformations, Epidermal Nevi and Spinal/Skeletal Anomalies and/or Scoliosis (CLOVES) syndrome is a rare genetic disorder caused by mutations in the PIK3CA gene. Symptoms include blood vessel abnormalities, small tissue tumors, skin legions and spinal abnormalities. Here is the latest research on CLOVES syndrome.
Castleman disease is a rare disorder that involves an overgrowth of cells in the lymph nodes. Unicentric Castleman disease affects one lymph node, usually in the chest or abdomen. Multicentric Castleman disease affects multiple lymph nodes, commonly located in the neck, collarbone, underarm and groin areas. Discover the latest research on Castleman disease here.
Cerebral creatine deficiency syndromes is a group of rare inherited disorders with three variants: Creatine Transporter Deficiency (CTD), Guanidinoacetate Methyltransferase Deficiency (GAMT) and L-Arginine: Glycine Amidinotransferase Deficiency (AGAT). Discover the latest research here.