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Topic Review
ORC1 Gene
origin recognition complex subunit 1
  • 1.1K
  • 24 Dec 2020
Topic Review
CHD7 Gene
chromodomain helicase DNA binding protein 7
  • 1.1K
  • 24 Dec 2020
Topic Review
Epilepsy-aphasia Spectrum
The epilepsy-aphasia spectrum is a group of conditions that have overlapping signs and symptoms. A key feature of these conditions is impairment of language skills (aphasia).
  • 1.1K
  • 25 Dec 2020
Topic Review
SMA-LED
Spinal muscular atrophy with lower extremity predominance (SMA-LED) is characterized by muscle weakness and wasting (atrophy) in the lower limbs, most severely affecting the thigh muscles (quadriceps). (In SMA-LED, the "D" stands for dominant, which refers to the inheritance pattern of this condition.) The loss of nerve cells that control muscle movement (motor neurons) leads to atrophy of the muscles in the lower limbs. Affected individuals often have a waddling or unsteady walk and walk on the balls of their feet. They may have difficulty rising from a seated position and climbing stairs. Some people with SMA-LED also have weakness in upper limb muscles. Joint deformities (contractures) in the hips, knees, feet, and ankles can occur in SMA-LED, and in severe cases are present from birth and can impair walking. Some individuals with this disorder have rigidity of joints (arthrogryposis) in their shoulders, elbows, and hands. In most people with SMA-LED, the muscle problems are apparent in infancy or early childhood; however, about one-quarter of affected individuals do not develop muscle weakness until adulthood. The muscle weakness and related health problems typically do not worsen over time.
  • 1.1K
  • 23 Dec 2020
Topic Review
Chromosome 18
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 18, one copy inherited from each parent, form one of the pairs.
  • 1.1K
  • 24 Dec 2020
Topic Review
Bare Lymphocyte Syndrome Type II
Bare lymphocyte syndrome type II (BLS II) is an inherited disorder of the immune system categorized as a form of combined immunodeficiency (CID). People with BLS II lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. These infections are often caused by "opportunistic" organisms that ordinarily do not cause illness in people with a normal immune system.
  • 1.1K
  • 24 Dec 2020
Topic Review
MEFV Gene
MEFV, pyrin innate immunity regulator
  • 1.1K
  • 22 Dec 2020
Topic Review
Sitosterolemia
Sitosterolemia is a condition in which fatty substances (lipids) from vegetable oils, nuts, and other plant-based foods accumulate in the blood and tissues.
  • 1.1K
  • 25 Dec 2020
Topic Review
Williams Syndrome
Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems.  
  • 1.1K
  • 24 Dec 2020
Topic Review
SLC5A5 Gene
solute carrier family 5 member 5
  • 1.1K
  • 24 Dec 2020
Topic Review
Steatocystoma Multiplex
Steatocystoma multiplex is a skin disorder characterized by the development of multiple noncancerous (benign) cysts known as steatocystomas.
  • 1.1K
  • 23 Dec 2020
Topic Review
Hereditary Angioedema
Hereditary angioedema is a disorder characterized by recurrent episodes of severe swelling (angioedema). The most common areas of the body to develop swelling are the limbs, face, intestinal tract, and airway.
  • 1.1K
  • 23 Dec 2020
Topic Review
ZMYM2 Gene
Zinc finger MYM-type containing 2
  • 1.1K
  • 24 Dec 2020
Topic Review
Cutis Laxa
Cutis laxa is a disorder of connective tissue, which is the tissue that forms the body's supportive framework. Connective tissue provides structure and strength to the muscles, joints, organs, and skin.
  • 1.1K
  • 24 Dec 2020
Topic Review
Romano-Ward Syndrome
Romano-Ward syndrome is a condition that causes a disruption of the heart's normal rhythm (arrhythmia).
  • 1.1K
  • 27 Jan 2022
Topic Review
Mutations and Health
A gene mutation is a permanent alteration in the DNA sequence that makes up a gene, such that the sequence differs from what is found in most people.  By changing a gene's instructions for making a protein, a mutation can cause the protein to malfunction or to be missing entirely. When a mutation alters a protein that plays a critical role in the body, it can disrupt normal development or cause a medical condition.
  • 1.1K
  • 24 Dec 2020
Topic Review
Clock Genes
Inflammation is a common feature of several diseases, including obesity, diabetes and neurodegenerative disorders. Circadian clock genes are expressed and oscillate in many cell types such as macrophages, neurons and pancreatic β cells. During inflammation, these endogenous clocks control the temporal gating of cytokine production, the antioxidant response, chemokine attraction and insulin secretion, among other processes. Deletion of clock genes in macrophages or brain-resident cells induces a higher production of inflammatory cytokines and chemokines, and this is often accompanied by an increased oxidative stress. In the context of obesity and diabetes, a high-fat diet disrupts the function of clock genes in macrophages and in pancreatic β cells, contributing to inflammation and systemic insulin resistance. 
  • 1.1K
  • 07 Jan 2021
Topic Review
MYOC and Glaucoma
MYOC encodes a secretary glycoprotein of 504 amino acids named myocilin. MYOC is the first gene to be linked to juvenile open-angle glaucoma (JOAG) and some forms of adult-onset primary open-angle glaucoma (POAG).
  • 1.0K
  • 02 Feb 2021
Topic Review
Poland Syndrome
Poland syndrome is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand. The extent and severity of the abnormalities vary among affected individuals.
  • 1.0K
  • 24 Dec 2020
Topic Review
CLPB Deficiency
CLPB deficiency is a rare disorder characterized by neurological problems and a shortage of infection-fighting white blood cells (neutropenia). Signs and symptoms of the condition develop by early childhood, and their severity varies widely among affected individuals.
  • 1.0K
  • 24 Dec 2020
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