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Topic Review
Common Variable Immune Deficiency
Common variable immune deficiency (CVID) is a disorder that impairs the immune system.
  • 984
  • 24 Dec 2020
Topic Review
DCC Gene
DCC Netrin 1 Receptor: The DCC gene provides instructions for making a protein called the netrin-1 receptor, which is involved in the development of the nervous system. 
  • 983
  • 23 Dec 2020
Topic Review
Chromosome 4
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 4, one copy inherited from each parent, form one of the pairs.
  • 982
  • 24 Dec 2020
Topic Review
ACP5 Gene
acid phosphatase 5, tartrate resistant
  • 982
  • 24 Dec 2020
Topic Review
Heterotaxy Syndrome
Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen.
  • 981
  • 23 Dec 2020
Topic Review
Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann syndrome is a condition that affects many parts of the body. It is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal (macrosomia) and tend to be taller than their peers during childhood. Growth begins to slow by about age 8, and adults with this condition are not unusually tall. In some children with Beckwith-Wiedemann syndrome, specific parts of the body on one side or the other may grow abnormally large, leading to an asymmetric or uneven appearance. This unusual growth pattern, which is known as hemihyperplasia, usually becomes less apparent over time.
  • 981
  • 24 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.
  • 981
  • 24 Dec 2020
Topic Review
Pancreatic Cancer with Mutation
Pancreatic ductal adenocarcinoma (PDAC) is the seventh leading cause of cancer death worldwide; most of cases are sporadic, however about 5% to 10% report a hereditary predisposition. Several hereditary syndromes have been associated with familial pancreatic cancer (FPC) onset, including hereditary breast and ovarian cancer syndrome (HBOC), Lynch syndrome (LS), Familial atypical multiple mole melanoma (FAMMM), Familial adenomatous polyposis (FAP), Li–Fraumeni syndrome (LFS), Peutz–Jeghers syndrome (PJS), and Hereditary pancreatitis (HP).
  • 981
  • 22 Feb 2022
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.
  • 980
  • 24 Dec 2020
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.
  • 979
  • 23 Dec 2020
Topic Review
EPCAM Gene
Epithelial cell adhesion molecule
  • 979
  • 04 Jan 2021
Topic Review
Branchiootorenal/Branchiootic Syndrome
Branchiootorenal (BOR) syndrome is a condition that disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. The signs and symptoms of this condition vary widely, even among members of the same family. Branchiootic (BO) syndrome includes many of the same features as BOR syndrome, but affected individuals do not have kidney abnormalities. The two conditions are otherwise so similar that researchers often consider them together (BOR/BO syndrome or branchiootorenal spectrum disorders).
  • 978
  • 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.
  • 978
  • 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.
  • 978
  • 25 Dec 2020
Topic Review
Pathophysiology of Hereditary Hemorrhagic Telangiectasia
Hereditary hemorrhagic telangiectasia is an inherited disease related to an alteration in angiogenesis, manifesting as cutaneous telangiectasias and epistaxis. As complications, it presents vascular malformations in organs such as the lung, liver, digestive tract, and brain. 
  • 978
  • 30 Sep 2022
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.
  • 978
  • 23 Dec 2020
Topic Review
COMP Gene
cartilage oligomeric matrix protein
  • 977
  • 24 Dec 2020
Topic Review
SLCO1B1 Gene
solute carrier organic anion transporter family member 1B1
  • 977
  • 24 Dec 2020
Topic Review
FZD4 Gene
Frizzled class receptor 4
  • 977
  • 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.
  • 977
  • 31 Dec 2020
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