Ads
related to: genetic disorders list rare
Search results
Results From The WOW.Com Content Network
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.
Rare genetic syndromes (1 C, 179 P) T. People with tetra-amelia syndrome (5 P) Pages in category "Rare syndromes" ... Familial Alzheimer-like prion disease;
CDK13-related disorder; Cerebro-costo-mandibular syndrome; CHAMP1-associated intellectual disability syndrome; Chromosome 5q deletion syndrome; Chudley–Mccullough syndrome; Cleft palate short stature vertebral anomalies syndrome; CLOVES syndrome; COACH syndrome; Cochleosaccular degeneration with progressive cataracts; Coffin–Lowry syndrome
Most genetic disorders are rare in themselves. [5] [8] Genetic disorders are present before birth, and some genetic disorders produce birth defects, but birth defects can also be developmental rather than hereditary. The opposite of a hereditary disease is an acquired disease.
Orphan drugs are medications targeting orphan diseases. Most rare diseases are genetic in origin and thus are present throughout the person's entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30% of children with rare diseases will die before reaching their fifth birthdays. [1]
Rare variant (genetics) RAS-associated autoimmune leukoproliferative disorder; Reparagen; Retinal cone dystrophy 3B; Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations; Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa; Ring chromosome 18; RNA-dominant disease