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Topic Review
3-M Syndrome
3-M syndrome is a disorder that causes skeletal abnormalities including short stature (dwarfism) and unusual facial features. The name of this condition comes from the initials of three researchers who first identified it: Miller, McKusick, and Malvaux.
  • 983
  • 23 Dec 2020
Topic Review
Y Chromosome Infertility
Y chromosome infertility is a condition that affects the production of sperm and causes male infertility, which means it is difficult or impossible for affected men to father children.
  • 983
  • 24 Dec 2020
Topic Review
Denys-Drash Syndrome
Denys-Drash syndrome is a condition that affects the kidneys and genitalia.
  • 983
  • 24 Dec 2020
Topic Review
EZH2 Gene
Enhancer of zeste 2 polycomb repressive complex 2 subunit
  • 983
  • 29 Dec 2020
Topic Review
TRIP11 Gene
Thyroid hormone receptor interactor 11: The TRIP11 gene provides instructions for making a protein known as Golgi microtubule-associated protein 210 (GMAP-210). 
  • 983
  • 25 Dec 2020
Topic Review
Brugada Syndrome
Brugada syndrome is a condition that causes a disruption of the heart's normal rhythm. Specifically, this disorder can lead to irregular heartbeats in the heart's lower chambers (ventricles), which is an abnormality called ventricular arrhythmia. If untreated, the irregular heartbeats can cause fainting (syncope), seizures, difficulty breathing, or sudden death. These complications typically occur when an affected person is resting or asleep.
  • 983
  • 31 Dec 2020
Topic Review
VWF Gene
Von Willebrand factor
  • 983
  • 04 Jan 2021
Topic Review
X-linked Sideroblastic Anemia and Ataxia
X-linked sideroblastic anemia and ataxia is a rare condition characterized by a blood disorder called sideroblastic anemia and movement problems known as ataxia. This condition occurs only in males.  
  • 983
  • 24 Dec 2020
Topic Review
Perrault Syndrome
Perrault syndrome is a rare condition that causes different patterns of signs and symptoms in affected males and females. A key feature of this condition is hearing loss, which occurs in both males and females. Affected females also have abnormalities of the ovaries. Neurological problems occur in some affected males and females.
  • 982
  • 24 Dec 2020
Topic Review
FOXG1 Syndrome
FOXG1 syndrome is a condition characterized by impaired development and structural brain abnormalities. Affected infants are small at birth, and their heads grow more slowly than normal, leading to an unusually small head size (microcephaly) by early childhood. The condition is associated with a particular pattern of brain malformations that includes a thin or underdeveloped connection between the right and left halves of the brain (a structure called the corpus callosum), reduced folds and grooves (gyri) on the surface of the brain, and a smaller than usual amount of brain tissue known as white matter.
  • 982
  • 25 Dec 2020
Topic Review
Nephrogenic Diabetes Insipidus
Nephrogenic diabetes insipidus is a disorder of water balance. The body normally balances fluid intake with the excretion of fluid in urine. However, people with nephrogenic diabetes insipidus produce too much urine (polyuria), which causes them to be excessively thirsty (polydipsia). Affected individuals can quickly become dehydrated if they do not drink enough water, especially in hot weather or when they are sick.
  • 981
  • 23 Dec 2020
Topic Review
Autoimmune Polyendocrinopathy-candidiasis-ectodermal Dystrophy
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an inherited condition that affects many of the body's organs. It is one of many autoimmune diseases, which are disorders that occur when the immune system malfunctions and attacks the body's own tissues and organs by mistake.
  • 981
  • 24 Dec 2020
Topic Review
Crouzon Syndrome
Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.
  • 981
  • 24 Dec 2020
Topic Review
COMP Gene
cartilage oligomeric matrix protein
  • 981
  • 24 Dec 2020
Topic Review
FZD4 Gene
Frizzled class receptor 4
  • 981
  • 25 Dec 2020
Topic Review
Friedreich Ataxia
Friedreich ataxia is a genetic condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features of this condition include the gradual loss of strength and sensation in the arms and legs; muscle stiffness (spasticity); and impaired speech, hearing, and vision. Individuals with Friedreich ataxia often have a form of heart disease called hypertrophic cardiomyopathy, which enlarges and weakens the heart muscle and can be life-threatening. Some affected individuals develop diabetes or an abnormal curvature of the spine (scoliosis).
  • 981
  • 25 Dec 2020
Topic Review
Telomeric and Sub-Telomeric in Fungal
Telomeres are long non-coding regions found at the ends of eukaryotic linear chromosomes. Although they have traditionally been associated with the protection of linear DNA ends to avoid gene losses during each round of DNA replication, the role of these sequences and their adjacent regions go beyond just protecting chromosomal ends. Regions nearby to telomeric sequences have now been identified as having increased variability in the form of duplications and rearrangements that result in new functional abilities and biodiversity.
  • 981
  • 09 Oct 2023
Topic Review
Alpha-mannosidosis
Alpha-mannosidosis is a rare inherited disorder that causes problems in many organs and tissues of the body. Affected individuals may have intellectual disability, distinctive facial features, and skeletal abnormalities. Characteristic facial features can include a large head, prominent forehead, low hairline, rounded eyebrows, large ears, flattened bridge of the nose, protruding jaw, widely spaced teeth, overgrown gums, and large tongue. The skeletal abnormalities that can occur in this disorder include reduced bone density (osteopenia), thickening of the bones at the top of the skull (calvaria), deformations of the bones in the spine (vertebrae), knock knees, and deterioration of the bones and joints.
  • 979
  • 24 Dec 2020
Topic Review
Ankylosing Spondylitis
Ankylosing spondylitis is a form of ongoing joint inflammation (chronic inflammatory arthritis) that primarily affects the spine. This condition is characterized by back pain and stiffness that typically appear in adolescence or early adulthood. Over time, back movement gradually becomes limited as the bones of the spine (vertebrae) fuse together. This progressive bony fusion is called ankylosis.
  • 978
  • 24 Dec 2020
Topic Review
Osteopetrosis
Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms.
  • 978
  • 24 Dec 2020
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