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The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
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Due to the wide range of genetic disorders that are known, diagnosis is widely varied and dependent of the disorder. Most genetic disorders are diagnosed pre-birth, at birth, or during early childhood however some, such as Huntington's disease, can escape detection until the patient begins exhibiting symptoms well into adulthood. [35] The basic ...
The following conditions and disorders were recommended as a "core panel" by the 2005 report of the American College of Medical Genetics (ACMG). [1] The incidences reported below are from the full report, though the rates may vary in different populations. [2] Blood cell disorders. Sickle cell anemia (Hb SS) > 1 in 5,000; among African ...
A rare disease is defined as one that affects fewer than 200,000 people across a broad range of possible disorders. [20] Chronic genetic diseases are commonly classified as rare. [ 20 ] [ 21 ] Among numerous possibilities, rare diseases may result from bacterial or viral infections, allergies , chromosome disorders, degenerative and ...
Most genetic counseling is done, however, only after the birth of at least one affected individual has alerted the family to their predilection for having children with a genetic disorder. The association of a single gene to a disease is rare and a genetic disease may or may not be a transmissible disorder. [5] Some genetic diseases are ...
Hemoglobinopathy is the medical term for a group of inherited blood disorders involving the hemoglobin, the protein of red blood cells. [1] They are generally single-gene disorders and, in most cases, they are inherited as autosomal recessive traits. [2] [3]
Ten to fifteen genetic NBIA disorders involving various cell processes have been identified: iron metabolism, coenzyme A biosynthesis, phospholipid metabolism, ceramide metabolism, lysosomal disorders, as well as mutations in genes with unknown functions. [5] [4] Onset can occur at different ages, from early childhood to late adulthood. [4]