Ad
related to: what is hereditary disorder
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.
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 .
Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. [6] [7] [1] Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. [1]
Hereditary haemochromatosis type 1 (HFE-related haemochromatosis) [3] is a genetic disorder characterized by excessive intestinal absorption of dietary iron, resulting in a pathological increase in total body iron stores. [4]
The disorder is autosomal recessive and inherited from parents who are carriers. [4] Diagnosis is often based on appearance at birth and confirmed by genetic testing. [5] Before birth, amniocentesis or ultrasound may support the diagnosis. [5] There is no cure for the condition. [8] Early in life, constant supportive care is typically required. [3]
CIPA is caused by a genetic mutation that prevents the formation of nerve cells responsible for transmitting signals of pain, heat, and cold in the brain. The disorder is inherited in an autosomal recessive fashion. [6] CIPA is caused by a mutation in NTRK1, [6] a gene encoding the neurotrophic tyrosine kinase receptor. [7]
A hereditary cancer syndrome (familial/family cancer syndrome, inherited cancer syndrome, cancer predisposition syndrome, cancer syndrome, etc.) is a genetic disorder in which inherited genetic mutations in one or more genes predispose the affected individuals to the development of cancer and may also cause early onset of these cancers.
CDK13-related disorder, also known as congenital heart defects, dysmorphic facial features and intellectual developmental disorder (CHDFIDD), is a very rare autosomal dominant genetic condition characterised by congenital heart defects, intellectual disability and characteristic facial features.
Ad
related to: what is hereditary disorder