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Topic Review
GDF3 Gene
Growth differentiation factor 3
  • 917
  • 25 Dec 2020
Topic Review
Attention-Deficit/Hyperactivity Disorder
Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.
  • 917
  • 31 Dec 2020
Topic Review
Arthrogryposis
Arthrogryposis (arth = joint; grp = curved; osis = pathological state) describes a broad range of phenotypes consisting of multiple congenital joint contractures presenting at birth. About 1 in 3000 live births presents with some form of arthrogryposis, many of which are nonprogressive and improve with physiotherapy. The core root of arthrogryposis is fetal akinesia, or lack of fetal movement, that results in contractures forming in the joints. 
  • 917
  • 21 Jun 2021
Topic Review
NOD2 Gene
nucleotide binding oligomerization domain containing 2
  • 917
  • 24 Dec 2020
Topic Review
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia is a form of acute myeloid leukemia, a cancer of the blood-forming tissue (bone marrow). In normal bone marrow, hematopoietic stem cells produce red blood cells (erythrocytes) that carry oxygen, white blood cells (leukocytes) that protect the body from infection, and platelets (thrombocytes) that are involved in blood clotting. In acute promyelocytic leukemia, immature white blood cells called promyelocytes accumulate in the bone marrow. The overgrowth of promyelocytes leads to a shortage of normal white and red blood cells and platelets in the body, which causes many of the signs and symptoms of the condition.
  • 917
  • 24 Dec 2020
Topic Review
Glucose-6-Phosphate Dehydrogenase Deficiency
Glucose-6-phosphate dehydrogenase deficiency is a genetic disorder that occurs almost exclusively in males.
  • 916
  • 23 Dec 2020
Topic Review
Ring Chromosome 14 Syndrome
Ring chromosome 14 syndrome is a condition characterized by seizures and intellectual disability.
  • 916
  • 24 Dec 2020
Topic Review
NR3C2 Gene
nuclear receptor subfamily 3 group C member 2
  • 916
  • 24 Dec 2020
Topic Review
Progressive Osseous Heteroplasia
Progressive osseous heteroplasia is a disorder in which bone forms within skin and muscle tissue.
  • 916
  • 24 Dec 2020
Topic Review
Epigenetic Aspects of Rare Diseases
Epigenetics plays an important role in pathogenicity since it regulates basic cellular functions, such as gene expression, DNA damage, chromatin topology, and chromosomal organization. Rare diseases affect more than 300 million people worldwide.
  • 916
  • 05 Aug 2022
Topic Review
Trisomy 13
Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body.
  • 915
  • 23 Dec 2020
Topic Review
Loeys-Dietz Syndrome
Loeys-Dietz syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, and blood vessels.
  • 915
  • 24 Dec 2020
Topic Review
Nijmegen Breakage Syndrome
Nijmegen breakage syndrome is a condition characterized by short stature, an unusually small head size (microcephaly), distinctive facial features, recurrent respiratory tract infections, an increased risk of cancer, intellectual disability, and other health problems.
  • 915
  • 24 Dec 2020
Topic Review
Ocular Albinism
Ocular albinism is a genetic condition that primarily affects the eyes. This condition reduces the coloring (pigmentation) of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue at the back of the eye. Pigmentation in the eye is essential for normal vision.
  • 915
  • 24 Dec 2020
Topic Review
SDHD Gene
succinate dehydrogenase complex subunit D
  • 915
  • 24 Dec 2020
Topic Review
Diastrophic Dysplasia
Diastrophic dysplasia is a disorder of cartilage and bone development. Affected individuals have short stature with very short arms and legs.
  • 915
  • 24 Dec 2020
Topic Review
Prader-Willi Syndrome
Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. Some people with Prader-Willi syndrome, particularly those with obesity, also develop type 2 diabetes (the most common form of diabetes).
  • 915
  • 24 Dec 2020
Topic Review
Fanconi Anemia
Fanconi anemia is a condition that affects many parts of the body. People with this condition may have bone marrow failure, physical abnormalities, organ defects, and an increased risk of certain cancers.
  • 915
  • 25 Dec 2020
Topic Review
Tyrosinemia
Tyrosinemia is a genetic disorder characterized by disruptions in the multistep process that breaks down the amino acid tyrosine, a building block of most proteins. If untreated, tyrosine and its byproducts build up in tissues and organs, which can lead to serious health problems.    
  • 914
  • 23 Dec 2020
Topic Review
KRT1 Gene
Keratin 1
  • 914
  • 23 Dec 2020
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