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.
Below are the most recent content updates.
✎ New Addition: 2,4-dienoyl-coa reductase deficiency
2,4-dienyl-CoA reductase deficiency (DE RED) is an extremely rare genetic condition that has only been described in a few people in the medical literature. One person with this disorder had a change in the NADK2 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. The NADK2 gene produces an enzyme that has several functions in the body including roles in the breakdown of fats for energy and activating and stabilizing other enzymes. Only a handful of people have been described with this disorder, which means that doctors are still learning about the specific signs and symptoms associated with the disorder. Infants have developed hypotonia, in which the muscle tone is reduced. In severe instances, hypotonia makes a baby seems floppy, almost like a rag doll. Respiratory acidosis, in which the lungs cannot remove carbon dioxide efficiently from the body, has also been described. Infants may have problems feeding and may not grow or gain weight as expected, a condition called failure to thrive. Researchers believe that additional symptoms can develop. Learn More >>
✎ New Addition: Guanidinoacetate methyltransferase deficiency (GAMT)
Guanidinoacetate methyltransferase (GAMT) deficiency is a rare genetic neurological disorder. Individuals with GAMT deficiency have a problem with the creation (synthesis) of creatine in the body. Creatine is important to the body because it increases the levels of adenosine triphosphate (ATP), a molecule that provides energy to all the cells in the body, especially those cells in areas of the body that have high energy requirements like the brain or the skeletal muscle. Creatine is necessary to help the body store and use energy and to help the brain and muscles develop. Infants and children with this disorder cannot breakdown a compound called guanidinoacetate; breaking down this compound is a normal step in producing creatine. Without treatment, infants and children will develop neurological symptoms including intellectual disability, which can be mild or severe. Other symptoms include seizures, lack of coordination (ataxia), autistic-like behaviors, and movement disorders. Symptoms occur because of the lack of creatine and because of the buildup of guanidinoacetate. How the disorder affects one child can be very different from how it affects another child. Symptoms can be very severe, or much milder. GAMT deficiency is caused by changes (mutations) in the GAMT gene. The disorder is treated with supplemental creatine and a low-protein or low-arginine diet and sometimes supplements with other substances such as ornithine. If treatment is begun early enough, it can be highly effective and some infants showed normal development. Learn More >>
✎ New Addition: Osteogenesis imperfecta (OI)
Osteogenesis imperfecta (OI) is a group of rare genetic disorders. People with OI have bones that may break or fracture easily. Breaking or fracturing of the bones occurs because of very mild trauma (that would not break bones in a person without OI), or with no trauma or cause. OI is also called ‘brittle bone disease.’ There are several forms and the symptoms and severity can be very different among people with this disorder. Some people will only be mildly affected and have a slightly increased risk of breaking bones. They may only have premature osteoporosis, a condition where bone mass is reduced making people more likely to have a bone fracture. Osteoporosis commonly affects people, even those without OI, as they grow older. Other people with OI may frequently break or fracture bones. The most severe form can cause death just before or just after birth (OI type II). This is known as the perinatal period. Other symptoms include problems affecting the teeth, loose skin or ligaments, or abnormal curving of the spine. Some people may be very short when they stop growing, a condition called short stature. Certain forms may cause hearing loss in later childhood or as an adult. Learn More >>
✎ New Addition: Turner syndrome
Turner syndrome is a rare disorder that affects females. Most girls are very short for their age and don’t experience normal growth spurts. If untreated, women with Turner syndrome will be very short as adults. Girls and women may also have a square-shaped chest with nipples that are farther apart than usual. Most girls experience premature ovarian failure. The ovaries, which are the two tiny glands that produce eggs and make certain hormones, do not function properly or are absent. This affects a girl’s sexual development and ability to have children. Most girls will not go through puberty unless they are treated with female hormones. Even with treatment, most girls are infertile. Some girls and women may have problems with the heart and blood vessels that can cause serious complications. Intelligence is usually not affected, but some girls or women may have trouble with certain mental skills like math or nonverbal memory or spatial relationships. Turner syndrome can be associated with many other problems including hearing loss, eye abnormalities, kidney issues, liver issues, and thyroid disease. There is no cure for Turner syndrome, but there are treatments for many of the problems that develop. The disorder can affect girls very differently. Some girls will have a mild form and may go undiagnosed well into adulthood, while other girls have very severe symptoms in infancy or childhood that affect their quality of life. Learn More >>
► Recently Updated:
- Acyl-coa dehydrogenase, medium-chain, deficiency of
- Adrenoleukodystrophy
- Amyloidosis, hereditary, transthyretin-related
- Epileptic encephalopathy, early infantile, 2
- Friedreich ataxia
- Hereditary hemorrhagic telangiectasia
- Huntington’s disease
- Incontinentia pigmenti
- Li-fraumeni syndrome 1
- Lynch syndrome
- Marfan syndrome
- Mitochondrial dna depletion syndrome 1 (mngie type)
- Mosaic trisomy 8
- Mosaic trisomy 9
- Mucolipidosis ii alpha/beta
- Mucopolysaccharidosis Type I
- Mucopolysaccharidosis Type II
- Mucopolysaccharidosis Type Iva
- Mucopolysaccharidosis Type VII
- Myotonic Dystrophy
- Pallister-Hall syndrome 1
- Riley-day syndrome
- Smith-Lemli-Opitz syndrome
- Turcot syndrome
- Xeroderma pigmentosum
If you wish to see your disease or disorder added or modified please contact us.
[Batch Update: 2017-05-02, 2017-05-16, 2017-05-30]
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