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Site Update for Week of 12/01/2016

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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 diseases and disorders. You can see all our covered diseases in the Diseases List, which can be see by Browsing Alphabetically or By Type.

If you wish to see your disease or disorder added or modified please contact us.

Below are the most recent content updates.

 

✎ New Addition: Acromegaly

Acromegaly is caused when the pituitary gland in the brain produces too much growth hormone (GH). This causes the hands, feet and sometimes other parts of the body grow larger than what they should. It often causes them to look out of proportion compared to the rest of the body. Acromegaly is a serious condition that needs to be diagnosed by a doctor and treated to prevent further health problems. It can be seen by itself or as symptom/part of other conditions as well. Learn More >>

 

✎ New Addition: CHARGE syndrome

CHARGE syndrome is a disorder that is considered a genetic condition characterized by sensory, physical, medical as well as developmental problems. CHARGE syndrome was diagnosed when an individual had the main features of the condition. CHARGE syndrome is named so because it is an acronym. This means that each letter in the name stands for a specific feature of the condition. Learn More >>

 

✎ New Addition: Galactosemia

Galactosemia is a rare genetic disorder. People with this disorder are missing an enzyme called galactose-1-phosphate uridyl transferase or Gal-1-PUT. This enzyme has a job. It is supposed to break down galactose in the body. Galactose is a sugar. The body gets most of its galactose from the breakdown of lactose, which is the main sugar in milk. Galactose is supposed to be broken down further into another sugar called glucose (which is a main energy source for the body) and other molecules essential for the proper function of the body. Because people with galactosemia are missing an enzyme, galactose cannot be broken down and instead ends up building up in the body. When galactose builds up, it becomes toxic to the cells. The name, galactosemia, means ‘too much galactose in the blood.’ Learn More >>

 

✎ New Addition: Noonan syndrome

Noonan syndrome is characterized by facial features, short stature, congenital heart defect, and developmental delay. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism (undescended testes), bleeding problems, and eye differences. Learn More >>

 

✎ New Addition: Pitt-hopkins syndrome

Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder. This means that people have a problem in a specific gene. People have about 20,000-25,000 genes in their bodies. Genes are like our body’s instruction manual – they control the growth, development and normal function of the body. Because of a change in a specific gene, people with PTHS lack a protein. This protein is a transcription factor or gene regulating protein – they bind to DNA and regulate the expression of other genes. The lack of this protein can lead to lots of different problems in the body, particularly the brain and central nervous system. Learn More >>

 

✎ New Addition: Sandhoff disease

Sandhoff disease is a genetic condition that affects brain and spinal cord. The condition usually starts in babies around 3 to 6 months of age. Babies with Sandhoff disease usually start to loose skills like rolling over and sitting up and eventually become unable to see, hear, or move on their own. Very rarely older people can have symptoms of Sandhoff disease. These symptoms are problems with movement and speech. Learn More >>

 

✎ New Addition: Trisomy x

Trisomy X, which is also known as triple X syndrome or 47,XXX, is a chromosome disorder that occurs in females. Typically, individuals have 23 pairs, or 46 total chromosomes. The chromosome pairs are numbered 1-22, with the final pair being known as the sex chromosomes. Generally, males have one X and one Y chromosome, whereas females typically have two X chromosomes. When a female has trisomy X, however, she has an extra X chromosome, or three total X chromosomes. This means that she has 47 total chromosomes. Learn More >>

 

► Recently Updated:

[Batch Update 2016-11-15,2016-11-21]

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