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.
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Below are the most recent content updates.
✎ New Addition: Hereditary angioedema
Hereditary angioedema or HAE is a 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 the SERPING1 gene, people with HAE are deficient in a protein called C1 inhibitor (HAE type 1), or have normal or elevated levels of this protein, but the protein does not function properly (HAE type II). Because they lack enough functional levels of this protein, people with HAE have repeated episodes of inflammation and swelling. This swelling is like the swelling seen in an allergic reaction. However, unlike an allergic reaction, there is usually no skin rash or itching. Swelling can occur in the face, hands, feet, eyelids, lips, tongues, and the mucous membrane lining the gastrointestinal tract. Less often, swelling can also affect the throat or upper airways; these episodes can sometimes cause life-threatening complications. The specific symptoms depend upon what areas of the body are affected during an episode. The disorder can affect people very differently. Some people may only have very few episodes or symptoms, while others have repeated, severe episodes of swelling. Episodes usually last 2-5 days and go away on their own without treatment. However, there are several drugs available to treat rapid, severe episodes of HAE, and some people may need preventive treatment. Specific treatments for people with HAE will differ. People with HAE should work with their physicians and entire medical team to develop an individualized treatment plan that is best for them. Learn More >>
✎ New Addition: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a genetic condition that prevents a person’s body from being able to break down a specific type of body fat to make energy. Most of the time, the body uses available fuels such as sugars to make energy. However, if a person is sick and not eating (fasting), dieting, or stressed, they may not be eating a normal amount of food to provide the body with those sugars. In these times, the body uses other sources of fuel such as fatty acids. A person with MCAD deficiency cannot break down these fatty acids and this causes medical problems during illness or fasting. This is called a metabolic crisis or metabolic decompensation. These problems may include problems eating, nausea, vomiting, diarrhea, a lack of energy (lethargy) or infants or children being very sleepy, low blood sugar (hypoglycemia), and liver problems. Without treatment, these medical issues can quickly turn serious and lead to heart problems, breathing difficulties, coma, or even sudden death. To be as healthy as possible, people with MCAD deficiency need to avoid going long periods of time without eating. They should also have an emergency plan if they become ill or are unable to eat. If diagnosed and started on an appropriate therapy, people with MCAD deficiency can often lead healthy lives with a normal life expectancy. Learn More >>
► Recently Updated:
- Adamtsl4-related eye disorders
- Alzheimer disease
- Amyloidosis, hereditary, transthyretin-related
- Cerebrotendinous xanthomatosis
- Fabry disease
- Familial Mediterranean fever
- Fetal cytomegalovirus syndrome
- Glycogen storage disease type III
- Holocarboxylase synthetase deficiency
- Miller-Dieker lissencephaly syndrome
- Mitochondrial dna depletion syndrome 1 (mngie type)
- Niemann-pick types a/b
- Ornithine Transcarbamylase Deficiency
- Pompe disease
- Rubinstein-Taybi syndrome
- Spinal muscular atrophy, type i
- X-linked Hypohidrotic Ectodermal Dysplasia
[Batch Update 2017-04-04, 2017-04-07, 2017-04-11, 2017-04-13, 2017-04-18, ]
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