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Topic Review
Hereditary Hemorrhagic Telangiectasia
Hereditary hemorrhagic telangiectasia is a disorder that results in the development of multiple abnormalities in the blood vessels.
  • 1.1K
  • 31 Dec 2020
Topic Review
C3 Gene
complement C3
  • 1.1K
  • 24 Dec 2020
Topic Review
Robinow Syndrome
Robinow syndrome is a rare disorder that affects the development of many parts of the body, particularly the skeleton.
  • 1.1K
  • 24 Dec 2020
Topic Review
AKT1 Gene
AKT serine/threonine kinase 1
  • 1.1K
  • 24 Dec 2020
Topic Review
DHMN-V
Distal hereditary motor neuropathy, type V is a progressive disorder that affects nerve cells in the spinal cord. It results in muscle weakness and affects movement of the hands and feet.
  • 1.1K
  • 04 Jan 2021
Topic Review
Allan-Herndon-Dudley Syndrome
Allan-Herndon-Dudley syndrome is a rare disorder of brain development that causes moderate to severe intellectual disability and problems with movement. This condition, which occurs exclusively in males, disrupts development from before birth. Although affected males have impaired speech and a limited ability to communicate, they seem to enjoy interaction with other people.
  • 1.1K
  • 24 Dec 2020
Topic Review
Chromosome 5
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 5, one copy inherited from each parent, form one of the pairs.
  • 1.1K
  • 24 Dec 2020
Topic Review
Familial Erythrocytosis
Familial erythrocytosis is an inherited condition characterized by an increased number of red blood cells (erythrocytes).
  • 1.1K
  • 25 Dec 2020
Topic Review
McCune-Albright Syndrome
McCune-Albright syndrome is a disorder that affects the bones, skin, and several hormone-producing (endocrine) tissues.
  • 1.1K
  • 23 Dec 2020
Topic Review
Apert Syndrome
Apert syndrome is a genetic disorder characterized by skeletal abnormalities. A key feature of Apert syndrome is the premature closure of the bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. In addition, a varied number of fingers and toes are fused together (syndactyly).
  • 1.1K
  • 24 Dec 2020
Topic Review
Familial Mediterranean Fever
Familial Mediterranean fever is an inherited condition characterized by recurrent episodes of painful inflammation in the abdomen, chest, or joints. These episodes are often accompanied by fever and sometimes a rash or headache. Occasionally inflammation may occur in other parts of the body, such as the heart; the membrane surrounding the brain and spinal cord; and in males, the testicles. In about half of affected individuals, attacks are preceded by mild signs and symptoms known as a prodrome. Prodromal symptoms include mildly uncomfortable sensations in the area that will later become inflamed, or more general feelings of discomfort.
  • 1.1K
  • 25 Dec 2020
Topic Review
Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is one of a group of disorders (collectively called congenital adrenal hyperplasia) that affect the adrenal glands. The adrenal glands are located on top of the kidneys and produce a variety of hormones that regulate many essential functions in the body. In people with CAH due to 11-beta-hydroxylase deficiency, the adrenal glands produce excess androgens, which are male sex hormones.
  • 1.1K
  • 04 Jan 2021
Topic Review
PRKN Gene
parkin RBR E3 ubiquitin protein ligase
  • 1.1K
  • 22 Dec 2020
Topic Review
PLG Gene
plasminogen
  • 1.1K
  • 25 Dec 2020
Topic Review
Pierre Robin Complex
The phenotype currently accepted as Pierre Robin syndrome/sequence/anomalad/complex (PR) is characterized by mandibular dysmorphology, glossoptosis, respiratory obstruction, and in some cases, cleft palate. A causative sequence of developmental events is hypothesized for PR, but few clear causal relationships between discovered genetic variants, dysregulated gene expression, precise cellular processes, pathogenesis, and PR-associated anomalies are documented.
  • 1.1K
  • 27 Jan 2021
Topic Review
New Genetic Screening Technologies (NIPT)
The search for prenatal detection of chromosomal anomalies has been ongoing since the 1960s. At the very beginning, maternal age was the screening parameter of choice, and Down syndrome the anomaly that was almost exclusively screened for. Since then things have, at least technically, changed enormously, even though Down syndrome is still the main focus of screening and in the minds of many patients the only diagnosis that they may confront. Structural chromosomal anomalies and monogenic diseases are still not focused on by current screening algorithms, nor by the education system or by society in general. With the clinical implementation of non-invasive prenatal testing (NIPT) in 2012, there has been a paradigm shift in prenatal screening. First trimester combined screening (FTCS) based on maternal age, fetal nuchal translucency thickness (NT) and the serum markers β-HCG and PAPP-A has a detection rate (DR) of 90–95%, a false positive rate of 2.5–5% and a PPV of 3.4 for the detection of trisomy 21. Included is the advantage that, if the results are abnormal, it could raise suspicion not only for the common trisomies, but also for early detectable fetal structural defects and other clinically relevant findings such as rare autosomal trisomies (RATs), triploidy, single gene disorders and copy number variants not detectable in a targeted NIPT approach. A disadvantage is the comparatively high false positive rate leading to invasive procedures.
  • 1.1K
  • 26 Apr 2021
Topic Review
DNA Damage and Multiple Myeloma
Multiple myeloma (MM) is an incurable plasma cell malignancy characterized by genomic instability. MM cells present various forms of genetic instability, including chromosomal instability, microsatellite instability, and base-pair alterations, as well as changes in chromosome number. The tumor microenvironment and an abnormal DNA repair function affect genetic instability in this disease. In addition, states of the tumor microenvironment itself, such as inflammation and hypoxia, influence the DNA damage response, which includes DNA repair mechanisms, cell cycle checkpoints, and apoptotic pathways. Unrepaired DNA damage in tumor cells has been shown to exacerbate genomic instability and aberrant features that enable MM progression and drug resistance.
  • 1.1K
  • 18 Feb 2021
Topic Review
Canavan Disease
Canavan disease is a rare inherited disorder that damages the ability of nerve cells (neurons) in the brain to send and receive messages. This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies disrupt the growth or maintenance of the myelin sheath, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses.
  • 1.1K
  • 24 Dec 2020
Topic Review
Lynch Syndrome
Lynch syndrome, often called hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon (large intestine) and rectum, which are collectively referred to as colorectal cancer.
  • 1.1K
  • 04 Jan 2021
Topic Review
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in short stature (dwarfism), skeletal abnormalities, and problems with vision. This condition affects the bones of the spine (spondylo-) and two regions (epiphyses and metaphyses) near the ends of long bones in the arms and legs. The Strudwick type was named after the first reported patient with the disorder.  
  • 1.1K
  • 23 Dec 2020
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