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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.
Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size). [3] There are well over 6,000 known genetic disorders, [4] and new genetic disorders are constantly being described in medical literature. [5]
Category: Genetic disorders by inheritance. ... Autosomal dominant disorders (3 C, 211 P) Autosomal recessive disorders (5 C, 441 P) M. Mitochondrial diseases (25 P) X.
Human genetics is the study of inheritance as it occurs in human beings.Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population genetics, developmental genetics, clinical genetics, and genetic counseling.
Indian Genetic Disease Database; Infantile cerebellar retinal degeneration; Infantile cortical hyperostosis; Inherited thrombotic thrombocytopenic purpura; Intellectual disability-spasticity-ectrodactyly syndrome; Iris hypoplasia with glaucoma; Isolated hyperCKemia
Genetic disorders are diseases that are caused by a single allele of a gene and are inherited in families. These include Huntington's disease, cystic fibrosis or Duchenne muscular dystrophy. Cystic fibrosis, for example, is caused by mutations in a single gene called CFTR and is inherited as a recessive trait. [16]