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Below are the most recent content updates.
2-methyl-3-hydroxybutyric acidemia (2M3HBA) deficiency is an inherited (genetic) disease that causes the body to not be able to break down a protein building block called isoleucine. Learn more.
✎ New: Achondrogenesis
Achondrogenesis is a group of conditions that affect the cartilage and bone development. Learn more.
ADAMTSL4-related eye disorders are a group of conditions that can affect the way that cause problems primarily with the front of the eye. Learn more.
✎ New: Aicardi syndrome
Aicardi syndrome is a genetic condition that occurs almost exclusively in females. Most commonly, those with Aicardi syndrome have a missing or an underdeveloped corpus callosum, the tissue that separates the left and right sides of the brain. Learn more.
Alpha-thalassemia X-linked intellectual disability syndrome is a genetic condition that affects different parts of the body. Learn more.
✎ New: Alpha Mannosidosis
Alpha-mannosidosis is a genetic condition that causes a progressive storage disorder in the organs of the body. Learn more.
✎ New: Alzheimer disease
Alzheimer disease is a disease that affects the brain. It is a common cause of dementia. Learn more.
Amyotrophic lateral sclerosis (ALS) is a disease of the nerves and muscles. Learn more.
✎ New: Barrett esophagus
Barrett’s esophagus is a disorder where normal tissue of the esophagus is replaced by tissue similar to the lining of your intestine. Learn more.
✎ New: 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.
✎ New: Cartilage-hair hypoplasia
Cartilage-Hair Hypoplasia (CHH) is a genetic condition that causes short stature with short arms and legs, small amounts of thin hair, an increased risk for cancer, and a weak immune system. Learn more.
The name “congenital adrenal hyperplasia” (CAH) refers to a group of hormone disorders caused by genetic changes or mutations in key genes that affect the adrenal gland’s ability to work. Learn more.
Congenital insensitivity to pain is a condition, present from birth, that inhibits the ability to perceive physical pain. Learn more.
✎ New: Cri-du-chat syndrome
Cri-du-chat syndrome is a genetic disorder that is caused by a deletion (missing piece) of chromosome number 5. Learn more.
Dihydrolipamide dehydrogenase deficiency, or DLD, is a severe metabolic disorder that causes neurological and liver problems. Learn more.
✎ New: Fetal parvovirus syndrome
Fetal parvovirus syndrome occurs when a baby is infected with a virus called parvovirus B19 before birth. Learn more.
✎ New: Fetal trimethadione syndrome
Fetal trimethadione syndrome is a collection of birth defects that occur when a mother takes the medication trimethadione (brand name Tridione®) during pregnancy. Learn more.
Fragile X Tremor/Ataxia syndrome (FXTAS) is a genetic condition that affects mostly males (over the age of 50) and some females with an abnormal expansion in the FMR1 gene. Learn more.
✎ New: Glutaric acidemia type 1
Glutaric acidemia type 1 (GA-1) is a rare genetic condition in which the body cannot break down certain types of amino acids, or “building blocks” of proteins. Learn more.
✎ New: Glutaric acidemia type 2
Glutaric acidemia type 2 (GA-2), also called Multiple acyl-CoA dehydrogenase deficiency (MADD), is a genetic condition where your body cannot break down some types of proteins and fats. Learn more.
Hereditary diffuse gastric cancer is a condition that runs in the family and causes an increased risk for certain types of cancer including: stomach cancer, breast cancer, and colon cancer. Learn more.
Congenital lactase deficiency is a rare genetic disorder. Infants with this disorder lack an enzyme called lactase. Learn more.
✎ New: Lundberg syndrome
Hereditary polyneuropathy, intellectual disability, acromicria, and premature menopause syndrome is also known as Lundberg syndrome, named after the physician who first described the condition in 1971. Learn more.
Mitochondrial Neurogastrointestinal Encephalopathy is a disease that primarily affects the mitochondria, which is the energy producing unit for the cell and the whole body that converts the food we eat into the energy. Learn more.
Mucopolysaccharidosis type (MPS) IV is a rare genetic disorder. This means that people have a problem in a specific gene. Learn more.
✎ New: Muir-Torre syndrome
Muir-Torre syndrome is a part of a family of hereditary cancer conditions. Learn more.
✎ New: Nemaline Myopathy
Nemaline myopathy is a disease that affects different muscles used for body movements. Learn more.
The neuronal ceroid lipofuscinoses are a group of genetic disorders that affect the neurological system. Learn more.
Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder characterized by short stature, an unusually small head (microcephaly), certain facial features, respiratory tract infections, mental retardation (intellectual disability), brain malformations, minor skeletal malformations, a higher chance of getting cancer, and other health problems. Learn more.
Ornithine Transcarbamylase Deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Learn more.
Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder of the kidneys and liver, although other organs are also involved. Learn more.
X-linked juvenile retinoschisis is a genetic disease of the eye that causes problems with vision beginning in childhood and is almost always diagnosed in males. Learn more.
✎ New: Thalidomide Embryopathy
Thalidomide embryopathy is a collection of abnormalities that result in an infant that has been exposed to the drug thalidomide in utero, or during pregnancy, at critical times of development. Learn more.
✎ New: Trisomy 8q
In trisomy 8q, an extra copy of all or part of the long arm of chromosome 8 is present in the cells of the body. Learn more.
✎ New: Trisomy 20p
Trisomy 20p is a rare genetic condition. It causes intellectual disability and delayed motor milestones, such as walking. Learn more.
► Updated: Distal hereditary motor neuropathy, type V
Distal hereditary motor neuropathy, type V (DHMN5) is a progressive genetic condition that affects the nerves in the spinal cord. Learn more.
► Updated: Fabry disease
Fabry disease is a progressive genetic condition that causes health problems like extreme tiredness (fatigue), little to no sweating, a reddish-purplish skin rash (angiokeratomas), burning pain in the hands and feet, problems in the heat and cold, frequent diarrhea and constipation, and early heart and kidney disease. Learn more.
► Updated: Gaucher disease
Gaucher disease is a lysosomal storage disease involving a deficiency (lacking) of the enzyme glucocerebrosidase (GBA). 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: Li-fraumeni syndrome 1
Li-Fraumeni syndrome is a cancer condition caused by genetic changes in the TP53 gene. Learn more.
[Batch Update 2016-09-06]