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Leucism (/ ˈ l uː s ɪ z əm,-k ɪ z-/) [2] [3] [4] is a wide variety of conditions that result in partial loss of pigmentation in an animal—causing white, pale, or patchy coloration of the skin, hair, feathers, scales, or cuticles, but not the eyes. [4] It is occasionally spelled leukism.
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.
This image shows haploid (single), diploid (double), triploid (triple), and tetraploid (quadruple) sets of chromosomes. Triploid and tetraploid chromosomes are examples of polyploidy. Polyploidy is a condition in which the cells of an organism have more than two paired sets of chromosomes.
The appearance of an amelanistic animal depends on the remaining non-melanin pigments. The opposite of amelanism is melanism, a higher percentage of melanin. [citation needed] A similar condition, albinism, is a hereditary condition characterised in animals by the absence of pigment in the eyes, skin, hair, scales, feathers or cuticle. [1]
There are well over 6,000 known genetic disorders, [4] and new genetic disorders are constantly being described in medical literature. [5] More than 600 genetic disorders are treatable. [ 6 ] Around 1 in 50 people are affected by a known single-gene disorder, while around 1 in 263 are affected by a chromosomal disorder . [ 7 ]
A ciliopathy is any genetic disorder that affects the cellular cilia or the cilia anchoring structures, the basal bodies, [1] or ciliary function. [2] Primary cilia are important in guiding the process of development, so abnormal ciliary function while an embryo is developing can lead to a set of malformations that can occur regardless of the particular genetic problem. [3]
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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]