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Below are the most recent content updates.
✎ New: Biotinidase deficiency
Biotinidase deficiency is a genetic, treatable, metabolic condition that is caused by the levels of an enzyme called biotinidase being too low or absent in an affected individual. Learn More
✎ New: Choroideremia
Choroideremia is a genetic disease of the eye. This condition results in degeneration, or loss of function, of the light-sensing tissue (retina) and the vascular layer (choroid) of the eyes. The degeneration is progressive, meaning that it worsens over time, and results in vision loss. Learn More
✎ New: Epileptic encephalopathy, early infantile, 2
Early infantile epileptic encephalopathy, type 2 (EIEE2) is a genetic neurologic disorder that results in early in life seizures. Most people start with seizures within the first few months of life and the seizures tend to be difficult to control. Learn More
✎ New: Holocarboxylase synthetase deficiency
Holocarboxylase synthetase deficiency is an inherited disorder in which the body is unable to use the vitamin biotin effectively. People with this condition have trouble using biotin, a vitamin that helps turn certain carbohydrates and proteins into energy for the body. Learn More
✎ New: Mowat-Wilson syndrome
Mowat-Wilson syndrome is a genetic condition that affects many parts of the body. Major signs of this disorder frequently include distinctive facial features, delayed development, intellectual disability, an intestinal disorder called Hirschsprung disease, and other birth defects. Learn More
✎ New: Mucolipidosis iii alpha/beta
Mucolipidosis III alpha/beta is a rare disorder. It is also called pseudo-Hurler polydystrophy. It is a genetic disorder. This means that people have a problem in a specific gene. Learn More
✎ New: Retinitis pigmentosa
Retinitis pigmentosa is a term that describes a group of genetic conditions that cause loss of vision. Retinitis pigmentosa primarily affects the back wall of the eye which is known as the retina. The retina allows the eye to respond to light. Learn More
✎ New: Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome is a genetic condition that often is described as having distinctive facial features, broad thumbs and/or toes, shorter than average and learning and development differences. This condition can also affect other parts of the body such as the heart, eyes, and kidneys. Learn More
✎ New: Walker-Warburg syndrome
Walker-Warburg syndrome (WWS) is a very rare and severe congenital muscular dystrophy that affects the brain, eyes and muscles. WWS belongs to a group of conditions known as dystroglycanopathies. Signs and symptoms of the condition are typically present before birth or very shortly afterward. Learn More
✎ New: Xeroderma pigmentosum
Xeroderma pigmentosum (XP) is a rare disorder. It is a genetic disorder. This means that people have a problem in a specific gene or genes. Learn More
► Updated: Alzheimer disease
Alzheimer disease is a disease that affects the brain. It is a common cause of dementia. Common symptoms include memory loss and impaired judgment. The symptoms of dementia progress over time. Learn More
► Updated: Beckwith-wiedemann syndrome
Beckwith-Wiedemann syndrome is a genetic overgrowth syndrome that can affect multiple parts of the body. Infants with the condition are usually bigger than other infants (macrosomia) and tend to be taller than their classmates during childhood. Learn More
► Updated: Bilateral renal agenesis
Bilateral renal agenesis is a rare and almost always fatal health problem in which both kidneys are missing at birth. Kidneys normally develop during the second and third months (5th-12th weeks) of pregnancy. If neither kidney forms it means the baby is unable to make urine before or after birth. Learn More
► Updated: CARASIL
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known as CARASIL, is an inherited progressive condition that causes strokes, problems moving, and other nerve and brain functioning issues. Learn More
► Updated: Congenital adrenal hyperplasia, due to 17-alpha-hydroxylase deficiency
Congenital Adrenal Hyperplasia, 17 alpha-hydroxylase is part of a larger group of disorders called Congenital Adrenal Hyperplasias. Congenital Adrenal Hyperplasias are disorders that are caused by a defect in the creation of steroid hormones in the adrenal cortex. Learn More
► Updated: cutis laxa
Cutis laxa are a group of genetic disorders that affect the body tissues that join and support other parts (connective tissues) in the body. Connective tissues provide support to skin, muscles, joints, and other organs. Learn More
► Updated: Duchenne and becker muscular dystrophy
Duchenne muscular dystrophy (DMD) is a genetic muscle disorder that causes weakness and wasting (atrophy) of the muscles. The first signs of DMD are often that the baby is late to sit, stand, and walk. Learn More
► Updated: Fetal varicella syndrome
Fetal Varicella Syndrome is a group of birth defects that can include scars on the skin, eye problems, poor growth, underdevelopment of an arm or leg, small head size, delayed development and intellectual disability. Learn More
► Updated: Huntington’s disease
Huntington’s disease (HD) is a genetic condition that causes decline or deterioration of brain cells, called neurons, that are located in several areas of the brain including areas that control movement, cognition and behavior. Learn More
► Updated: Lactase deficiency, congenital
Congenital lactase deficiency is a rare genetic disorder. Infants with this disorder lack an enzyme called lactase. This enzyme has a job. That job is to breakdown lactose in the body. Learn More
► Updated: Metachromatic leukodystrophy
Metachromatic leukodystrophy (MLD) is a genetic condition that occurs when an enzyme called arylsulfatase A (ARSA) is not working properly. ARSA is used in the first step of breaking down molecules (called sulfatides) that are present in the material that covers the nerves in both the brain and the body. Learn More
► Updated: Tay-sachs disease
Tay-Sachs disease is a rare neurological disorder. Individuals with this disorder cannot break down a normal substance in the body called GM2 ganglioside, a type of fatty material called a lipid. Because they can’t break this substance down, it builds up in cells of the body, particularly nerve cells in the brain and spinal cord. Learn More
[Batch Update 2016-10-25, 2016-11-01, 2016-11-08]
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