ThinkGenetic strives to create, update, and review content regularly to ensure the information we provide is accurate, referenced, and available 24/7 to anyone searching for answers on genetic conditions and diseases. You can see all our covered diseases in the Diseases List, and you can do this by Browsing Alphabetically or By Type.
Below are the most recent content updates.
✎ New Addition: Argininosuccinic aciduria
Argininosuccinic aciduria is a rare genetic disorder. People with this disorder are deficient in or missing an enzyme called argininosuccinate lyase or ASL. This enzyme has a job. It is part of the urea cycle. This cycle is series of biochemical reactions that occur in the body to help to break down (metabolize) and then remove excess nitrogen from the body. Nitrogen is obtained from the diet and is a normal waste product of the metabolism of protein. Through the urea cycle, nitrogen is broken down into a compound called urea that is passed from the body in the urine. Since people with argininosuccinic aciduria cannot properly break down nitrogen into urea, nitrogen (in the form of ammonia) build up in the body. When too much ammonia builds up, it is toxic to the body, particularly to the brain. The disorder is highly variable. This means how it affects one person can be very different from how it affects another person. Learn More >>
✎ New Addition: Propionic acidemia
Propionic acidemia, or PA is a genetic condition where your body cannot break down some types of proteins and fats. People with PA cannot properly break down their food into energy, so the proteins and fats can build up, causing significant health problems. This can cause intellectual disability and serious health problems if not treated. Early diagnosis and a strict diet can help lessen these symptoms. Learn More >>
✎ New Addition: Nephrotic syndrome type 1
Nephrotic syndrome type I is a rare inherited kidney disorder. It is also called congenital nephrotic syndrome of Finnish type because it has occurred most frequently in Finland. One of the main jobs of the kidneys is to filter excess water and waste products from the blood to be carried from the body in the urine. In nephrotic syndrome type I, the kidneys do not function properly; they allow protein to leak out. Usually, infants lose massive amounts of protein through the urine. The body responds to this abnormal loss of protein by retaining water. This leads to swelling because of fluid buildup in various parts of the body; this is called edema. The loss of protein can occur before birth and most infants are born prematurely. Infants also lose blood cells. They also lose antibodies, which are specialized proteins that help the body fight off infection. Because they lack the normal number of antibodies, infants and children are prone to developing repeated infections. They are also prone to developing blood clots in the body. The growth and development of infants and children is slowed and remains slowed despite treatment. They may need a feeding tube during infancy to ensure they get enough nutrients and calories. Nephrotic syndrome type I is a serious disorder and can be fatal in the first years of life. Kidney function usually continues to worsen until the kidneys fail completely. This is called end stage renal failure and will require a kidney transplant to fix. Even with treatment, most infants or children will require a kidney transplant. Learn More >>
✎ New Addition: Tuberous sclerosis
Tuberous sclerosis is a rare genetic disorder. It is also called tuberous sclerosis complex or TSC. It is a highly variable disorder. This means the way it affects one person can be very, very different from how it affects another person. This is true even for people in the same family and even between identical twins. Some people will have neurological problems, while others may only have problems with their skin or their kidneys. The signs and symptoms will vary, depending, in part, on what organs are involved and to what extent. The main feature is the formation of benign (not cancerous) tumors throughout the body, most often in the brain, eyes, heart, kidneys, skin and lungs. Although these tumors are benign, they can cause problems because they grow and can damage nearby organs or structures in the body. The spectrum of disease in tuberous sclerosis is quite large. Some people will have mild symptoms and go undiagnosed well into adulthood. Other people may have severe symptoms in childhood. Many people with tuberous sclerosis have gone on to become lawyers, doctors and other professions. Tuberous sclerosis is a highly individualized disorder and patients and parents of affected children need to work closely with their doctors and medical teams to understand how the disorder will affected them. Learn More >>
► Recently Updated:
- 15q24 deletion syndrome
- 15q26 overgrowth syndrome
- 22q11.2 deletion syndrome
- 22q11.2 duplication
- Acyl-coa dehydrogenase, medium-chain, deficiency of
- Agammaglobulinemia, x-linked
- Alagille syndrome
- Alkaptonuria
- Alpha-thalassemia
- Androgen insensitivity syndrome
- Angelman syndrome
- Argininemia
- Bardet-Biedl Syndrome
- Beckwith-wiedemann syndrome
- Beta-thalassemia
- Bloom syndrome
- Branchiootorenal syndrome
- BRCA1, familial breast-ovarian cancer susceptibility 1
- BRCA2, familial breast-ovarian cancer susceptibility 2
- Cardiofaciocutaneous syndrome
- CHARGE syndrome
- Chromosome 1p36 deletion syndrome
- Chromosome 22q11.2 duplication syndrome
- Clouston syndrome
- Congenital adrenal hyperplasia, due to 17-alpha-hydroxylase deficiency
- Cri-du-chat syndrome
- Crouzon syndrome
- Fabry disease
- Lesch-nyhan syndrome
- Mucopolysaccharidosis Type I
- Mucopolysaccharidosis Type IVA
- Mucopolysaccharidosis type IVB
- Myotonic Dystrophy
- Norrie disease
- Phenylketonuria
- Tay-sachs disease
- Von hippel-lindau syndrome
If you wish to see your disease or disorder added or modified please contact us.
[Batch Update: 2017-06-27, 2017-07-05, 2017-07-25]
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