Hereditary nonpolyposis colorectal cancer (HNPCC), or Lynch syndrome, is the most common form of hereditary colorectal cancer (CRC). A well-orchestrated cancer family history is essential for its diagnosis since, unlike its familial adenomatous polyposis (FAP) hereditary cancer counterpart, HNPCC lacks distinguishing clinical stigmata of its cancer genetic risk. Discoveries in the 1990s of germ...

Pompe disease is an autosomal recessive lysosomal storage disorder caused by deficiency of acid alpha-glucosidase (GAA) activity, leading to the progressive accumulation glycogen in lysosomes skeletal and cardiac muscles. An pseudodeficiency allele a change GAA gene sequence that results enzyme activity reduction, but does not cause disease. In Japan Taiwan, there high prevalence (c.1725G > A c...

Hereditary pancreatitis is an autosomal dominant disorder whose phenotype is associated with distinct point mutations in the cationic trypsinogen gene on chromosome 7q35 (1,2). Affected patients have recurrent episodes of pancreatitis that often begin during childhood. Compared with the general population or patients with chronic pancreatitis of common etiologies who have a somewhat increased c...

Hereditary hemochromatosis (also known as type 1 hemochromatosis, iron overload disorder, or the Celtic Curse) is a genetic disorder characterized by an autosomal recessive inheritance pattern. This review project focused on gathering comprehensive data about history, causes, inheritance, diagnosis, and treatment of disorder. Through such research, it was discovered that may occur due to one tw...

BACKGROUND Hereditary spherocytosis is autosomal dominant inherited extravascular hemolytic disorder and is the commonest cause of inherited hemolysis in northern Europe and the United States. The classical clinical features of hereditary spherocytosis are anemia, jaundice, and splenomegaly. However, all of these classical features are not always revealed in the case of mild hemolysis or when h...

Background: Phenylketonuria is a hereditary, autosomal recessive disorder caused by deficiency of phenylalanine hydroxylase or its cofactor tetrahydrobiopterin. The purpose of the present study was to evaluate the incidence of this disorder in southern Iran. Methods: All the neonates born between 22/Dec/2004 and 7/Sep/2007 were screened and their blood samples were tested by colorimetric and hi...

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal, predominantly inherited disease characterized by diffuse telangiectases involving the skin, mucous membranes, lung, brain, gastrointestinal tract and liver. Peliosis hepatis is a rare, benign disorder causing sinusoidal dilatation and the presence of multiple blood-filled lacunar spaces within the liver. We report a case of an HHT pa...

White sponge nevus (WSN) is a rare hereditary dyskeratotic hyperplasia of mucous membranes. It is an autosomal dominant disorder with variable penetrance. We report a case of WSN in a healthy 21-year-old male with no history of familial involvement. A white smooth plaque with no erythema or other structural abnormalities was observed, which confirmed the diagnosis of WSN histopathologically.