The following is a list of genetic disorders and if known, type of mutation and the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in these genes that causes the disease.
Most common disorders
Human Genetic Diseases to Know - Tay Sachs, Downs, Huntington's, Sickle-Cell, Klinefelter's, Color-blindness.
- P â" Point mutation, or any insertion/deletion entirely inside one gene
- D â" Deletion of a gene or genes
- C â" Whole chromosome extra, missing, or both (see Chromosome abnormality)
- T â" Trinucleotide repeat disorders: gene is extended in length
Full genetic disorders list
References
Further reading
- "Specific Genetic Disorders". National Human Genome Research Institute (NHGRI). genome.gov. Retrieved 15 November 2017.Â
- "Congenital and Genetic Diseases | Genetic and Rare Diseases Information Center (GARD) â" an NCATS Program". rarediseases.info.nih.gov. NIH.gov. Retrieved 15 November 2017.Â