16
Sep

The process through which the parents pass on certain genes to their children is called genetics. It is within these genetics and chromosomes that a lot of information lies hidden. The appearance of the person, his height, his skin color, and the diseases he is likely to be prone to - all depend upon the genes and chromosomes transferred by each of the parents to the child. But, this information comes in the coded form of nucleotide sequences that create DNA molecules. Any disruption in this sequence leads to a genetic disorder. While some genetic diseases occur upon spontaneous gene mutation, others develop during the growing years of the child. Not all genetic disorders are inherited and some genetic diseases are not evident unless their genes interact with certain environmental factors. As per medical reports, one in every 200 babies is born with a single-gene genetic disorder, one of the common types of genetic disorder. The other three types are multifactorial genetic diseases, chromosomal defects, and mitochondrial genetic disorders. Given here is a list of some of the many genetic diseases found in humans. 

List of Genetic Diseases 

  • Achondroplasia - most common genetic cause of dwarfism
  • Achromatopsia - visual acuity loss, colorblindness, light sensitivity, and nystagmus
  • Acid Maltase Deficiency - accumulation of glycogen stored in muscles causing respiratory failure
  • Albinism - little or no production of melanin in hair, skin, and iris of the eyes
  • Alzheimer’s Disease - most common form of dementia
  • Angelman Syndrome - intellectual and developmental delays, severe speech impairment and problems in movement and balance, recurrent seizures and small heads
  • Bardet-Biedl Syndrome - obesity, polydactyly, deterioration of rod and cone cells, mental retardation and defect in the gonads, and kidney disease
  • Barth Syndrome - mutations or alterations in the BTHS gene, heart defects, poor skeletal musculature, short stature, mitochondrial abnormalities, and deficiency of white blood cells
  • Bipolar Disorder - highly elevated moods due to genetic and environmental factors
  • Bloom Syndrome - high frequency of breaks and rearrangements in the chromosomes
  • Canavan Disease - steady damage to nerve cells in the brain
  • Charcot-Marie-Tooth disease - touch sensation and loss of muscle tissue
  • Color Blindness - inability of differentiating among certain colors
  • Cri-du-Chat Syndrome - spontaneous deletion of a segment of chromosome 5 during formation of egg or sperm or during early stages of fetal development
  • Cystic Fibrosis - autosomal recessive disorder secreting mucus and sweat
  • Down Syndrome - abnormal cell division of chromosome 21
  • Duchenne Muscular Dystrophy - rapidly gradual muscle weakness and damaged muscular tissue in the pelvis and legs
  • Fatty Oxidation - inability to oxidize (breakdown) fatty acids
  • Fragile X Syndrome - inherited form of mental retardation
  • Galactosemia - body’s inability to break down galactose
  • Hailey-Hailey Disease - blistering rashes on body folds
  • Hemophilia - body’s inability to control bleeding (interior or exterior, or both)
  • Huntington’s Disease - production of a faulty protein instead of the normal “huntingtin” protein
  • Jackson-Weiss Syndrome - foot abnormalities and premature fusion of bones in the skull
  • Klinefelter Syndrome - abnormal testicular evolution and decreased fertility
  • Krabbe Disease - mutation in the GALC gene
  • Langer-Giedion Syndrome - deletion or mutation of at least two genes on chromosome 8
  • Lesch-Nyhan Syndrome - deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT)
  • Lowe Syndrome - physical and mental retardation
  • Marfan Syndrome - genetic disorder of the connective tissue
  • Muscular Dystrophy - progressive weakening and breaking down of muscle fibers
  • Myotonic Dystrophy - wasting of the muscles, cataracts, heart conduction defects, endocrine changes, and myotonia
  • Nail-Patella Syndrome - lack of nail and knee caps
  • Neurofibromatosis - development of tumors along the different nerves and evolution of non-nervous tissues, like skin and bones
  • Noonan Syndrome - heart malformations, short stature, characteristic facial features, impaired blood clotting, and indentation of the chest
  • Osteogenesis Imperfecta - weakened muscles, brittle bones, curved spine, and impaired hearing
  • Parkinson’s Disease - impairment of the central nervous system
  • Patau Syndrome - non-disjunction of chromosome 13
  • Phenylketonuria - mental retardation, seizures, or brain damage
  • Porphyria - accumulation of porphyrin or its precursors in the body
  • Prune Belly Syndrome - presence of mass of wrinkled skin on the abdomen
  • Retinoblastoma - cancer of the retina
  • Rett Syndrome - decreased rate of head growth, small hands and feet, disabilities related to learning communication, coordination and speech
  • Russell Silver Syndrome - poor growth, low birth weight, short height, and differences in the size of the two sides of the body
  • Sanfilippo Syndrome - deficiency in one of the enzymes needed to break down the glycosaminoglycan heparan sulfate
  • Schizencephaly - abnormal development of the brain
  • Shwachman Syndrome - exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal abnormalities, and short stature
  • Sickle Cell Anemia - blood disorder causing sickling of the red blood cells
  • Smith-Lemli-Opitz Syndrome - distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems
  • Spina Bifidia - malformations of the spinal cord
  • TAR Syndrome - absence of the radius bone in the forearm and reduced platelet count
  • Tay-Sachs Disease - damage of the nerve cells in brain and spinal cord
  • Turner Syndrome - lack of either one whole or a part of an X chromosome
  • Usher Syndrome - deafness and progressive loss of vision
  • Von Hippel-Lindau Syndrome - formation of tumors and fluid-filled sacs (cysts) in different parts of the body
  • Waardenburg Syndrome - varying degrees of deafness and changes in hair and skin pigmentation
  • Wilson’s Disease - body’s inability to get rid of excess copper in the body
  • Xeroderma Pigmentosum - inability of the DNA to repair damage caused due to ultraviolet rays
  • XXXX Syndrome - two extra copies of the X chromosome in females
  • XXX Syndrome - extra copy of the X chromosome in females
  • XYY Syndrome - extra copy of the Y chromosome in males 

Till date, there are more than 4000 genetic disorders known to the medical field, with new ones being discovered every year. Most of the disorders are rare, affecting just one in million people.