One or more abnormalities in the genome.
Monogenic diseases These are genetic diseases that are due to a mutation(s) in only 1 gen. They can be inherited in different ways: autosomal dominant, autosomal recessive, X-linked or Y-linked. Frequent monogenic diseases are cystic fibrosis, thalassemia and fragile X syndrome. Metabolic diseases These are monogenic that are due to the deficiency of a protein which is important in the metabolism. Examples of metabolic diseases are Phenylketonuria (PKU) and Gaucher disease. Multifactorial diseases These are diseases with a small genetic component. Therefore, the mode of inheritance of a monogenic disease is defined by the position of the mutated gene. On the other hand one can also derive the mode of inheritance of the disease by studying the transmission within the family. The geneticist or genetic counseler therefore makes a family pedigree. A single-gene disorder is the result of a single mutated gene. Over 4000 human diseases are caused by single-gene defects. Single-gene disorders can be passed on to subsequent generations in several ways. Whether, when and to what extent a person with the genetic defect or abnormality will actually suffer from the disease is almost always affected by the environmental factors and events in the person's development. Monogenic diseases result from modifications in a single gene occurring in all cells of the body. Though relatively rare, they affect millions of people worldwide. Scientists currently estimate that over 10,000 of human diseases are known to be monogenic. All human beings have two sets or copies of each gene called “allele”; one copy on each side of the chromosome pair. Recessive diseases are monogenic disorders that occur due to damages in both copies or allele. Dominant diseases are monogenic disorders that involve damage to only one gene copy. X linked diseases are monogenic disorders that are linked to defective genes on the X chromosome which is the sex chromosome. The X linked alleles can also be dominant or recessive Because monogenic diabetes is rare, this diagnosis is often not considered in people with diabetes. However, certain factors can make doctors suspect that a diagnosis of type 1 or type 2 diabetes is not correct. In most forms of the disease, the body is less able to make insulin, a hormone that helps the body use glucose (sugar) for energy. Rarely, the problem is severe insulin resistance, a condition in which the body cannot use insulin properly. A correct diagnosis can help people get the right treatment. Monogenic diabetes is a rare condition resulting from mutations (changes) in a single gene. In contrast, the most common types of diabetes—type 1 and type 2—are caused by multiple genes (and in type 2 diabetes, lifestyle factors such as obesity). Most cases of monogenic diabetes are inherited. In most forms of the disease, the body is less able to make insulin, a hormone that helps the body use glucose (sugar) for energy. Rarely, the problem is severe insulin resistance, a condition in which the body cannot use insulin properly. A correct diagnosis can help people get the right treatment. Monogenic diseases When a hereditary disease is caused by an anomaly in a single gene one speaks of a monogenic disease. When a disease it is caused by an interaction between several genes and environmental factors, one speaks of a multifactorial disease. Below monogenic diseases and their inheritance are discussed. Therefore, the mode of inheritance of a monogenic disease is defined by the position of the mutated gene. On the other hand one can also derive the mode of inheritance of the disease by studying the transmission within the family. The geneticist or genetic counseler therefore makes a family pedigree. A genetic disorder is a genetic problem caused by one or more abnormalities in the genome, especially a condition that is present from birth (congenital). Most genetic disorders are quite rare and affect one person in every several thousands or millions. Genetic disorders may or may not be heritable, i.e., passed down from the parents' genes. In non-heritable genetic disorders, defects may be caused by new mutations or changes to the DNA. Whether, when and to what extent a person with the genetic defect or abnormality will actually suffer from the disease is almost always affected by the environmental factors and events in the person's development. Monogenic diabetes appears in several forms and most often affects young people. In most forms of the disease, the body is less able to make insulin, a hormone that helps the body use glucose (sugar) for energy. Rarely, the problem is severe insulin resistance, a condition in which the body cannot use insulin properly. A correct diagnosis can help people get the right treatment.
http://www.geneticcounselling.eu/genetics2.html https://en.wikipedia.org/wiki/Monogenic_disease http://www.who.int/genomics/public/geneticdiseases/en/index2.html http://www.hormone.org/questions-and-answers/2010/monogenic-diabetes http://www.hormone.org/questions-and-answers/2010/monogenic-diabetes http://www.geneticcounselling.eu/genetics2.html https://en.wikipedia.org/wiki/Monogenic_disease http://www.hormone.org/questions-and-answers/2010/monogenic-diabetes
what makes a disease monogenic