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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.
Ichthyosis (also named fish scale disease) [1] is a family of genetic skin disorders characterized by dry, thickened, scaly skin. [2] The more than 20 types of ichthyosis range in severity of symptoms, outward appearance, underlying genetic cause and mode of inheritance (e.g., dominant, recessive, autosomal or X-linked). [3]
Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare autosomal recessive genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, face, arms, and legs. It is caused by a mutation in the ESCO2 gene.
A rare disease is any disease that affects a small percentage of the population. In some parts of the world, the term orphan disease describes a rare disease whose rarity results in little or no funding or research for treatments, without financial incentives from governments or other agencies. Orphan drugs are medications targeting orphan ...
The disorder leaves the cat with a full-size body, but disproportionately short and thick legs. Dwarf cats often suffer from spinal disorders, such as lordosis (excessive curvature of the spine) and pectus excavatum (hollowed chest). [7] As with human dwarfism, there are still a lot of unknown mysteries in the science behind feline dwarfism.
Severe combined immunodeficiency (SCID), also known as Swiss-type agammaglobulinemia, is a rare genetic disorder characterized by the disturbed development of functional T cells and B cells caused by numerous genetic mutations that result in differing clinical presentations. [2] SCID involves defective antibody response due to either direct ...
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause ...
Lysosomal storage diseases (LSDs; / ˌlaɪsəˈsoʊməl /) are a group of over 70 rare inherited metabolic disorders that result from defects in lysosomal function. [1][2] Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling. This process requires several ...