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Topic Review
Isolated Growth Hormone Deficiency
Isolated growth hormone deficiency is a condition caused by a severe shortage or absence of growth hormone.
  • 719
  • 23 Dec 2020
Topic Review
Abdominal Wall Defect
An abdominal wall defect is an opening in the abdomen through which various abdominal organs can protrude. This opening varies in size and can usually be diagnosed early in fetal development, typically between the tenth and fourteenth weeks of pregnancy. There are two main types of abdominal wall defects: omphalocele and gastroschisis. Omphalocele is an opening in the center of the abdominal wall where the umbilical cord meets the abdomen. Organs (typically the intestines, stomach, and liver) protrude through the opening into the umbilical cord and are covered by the same protective membrane that covers the umbilical cord. Gastroschisis is a defect in the abdominal wall, usually to the right of the umbilical cord, through which the large and small intestines protrude (although other organs may sometimes bulge out). There is no membrane covering the exposed organs in gastroschisis.
  • 719
  • 04 Feb 2021
Topic Review
Lattice Corneal Dystrophy Type I
Lattice corneal dystrophy type I is an eye disorder that affects the clear, outer covering of the eye called the cornea.
  • 719
  • 23 Dec 2020
Topic Review
YY1AP1 Gene
YY1 associated protein 1: the YY1AP1 gene provides instructions for making part of a group of associated proteins known as the INO80 chromatin remodeling complex. 
  • 719
  • 24 Dec 2020
Topic Review
Adenine Phosphoribosyltransferase Deficiency
Adenine phosphoribosyltransferase (APRT) deficiency is an inherited condition that affects the kidneys and urinary tract. The most common feature of this condition is recurrent kidney stones; urinary tract stones are also a frequent symptom. Kidney and urinary tract stones can create blockages in the urinary tract, causing pain during urination and difficulty releasing urine.
  • 719
  • 24 Dec 2020
Topic Review
ATP2C1 Gene
ATPase secretory pathway Ca2+ transporting 1
  • 719
  • 24 Dec 2020
Topic Review
CACNA1S Gene
calcium voltage-gated channel subunit alpha1 S
  • 719
  • 24 Dec 2020
Topic Review
PSEN1 Gene
presenilin 1
  • 718
  • 23 Dec 2020
Topic Review
SALL4 Gene
spalt like transcription factor 4
  • 718
  • 24 Dec 2020
Topic Review
COL6A3 Gene
collagen type VI alpha 3 chain
  • 718
  • 24 Dec 2020
Topic Review
Carnitine Palmitoyltransferase I Deficiency
Carnitine palmitoyltransferase I (CPT I) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). The severity of this condition varies among affected individuals.
  • 718
  • 24 Dec 2020
Topic Review
Spastic Paraplegia Type 49
Spastic paraplegia type 49 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve only the lower limbs, whereas the complex types also involve the upper limbs (to a lesser degree) and other problems with the nervous system. Spastic paraplegia type 49 is a complex hereditary spastic paraplegia.  
  • 717
  • 23 Dec 2020
Topic Review
KCNQ1 Gene
Potassium voltage-gated channel subfamily Q member 1
  • 717
  • 23 Dec 2020
Topic Review
LAMA3 Gene
Laminin subunit alpha 3
  • 717
  • 23 Dec 2020
Topic Review
DICER1 Syndrome
DICER1 syndrome is an inherited disorder that increases the risk of a variety of cancerous and noncancerous (benign) tumors, most commonly certain types of tumors that occur in the lungs, kidneys, ovaries, and thyroid (a butterfly-shaped gland in the lower neck). Affected individuals can develop one or more types of tumors, and members of the same family can have different types. However, the risk of tumor formation in individuals with DICER1 syndrome is only moderately increased compared with tumor risk in the general population; most individuals with genetic changes associated with this condition never develop tumors.
  • 717
  • 24 Dec 2020
Topic Review
VKORC1 Gene
Vitamin K epoxide reductase complex subunit 1.
  • 716
  • 23 Dec 2020
Topic Review
Niemann-Pick Disease
Niemann-Pick disease is a condition that affects many body systems. It has a wide range of symptoms that vary in severity. Niemann-Pick disease is divided into four main types: type A, type B, type C1, and type C2. These types are classified on the basis of genetic cause and the signs and symptoms of the condition.
  • 716
  • 24 Dec 2020
Topic Review
Atypical Hemolytic-Uremic Syndrome
Atypical hemolytic-uremic syndrome is a disease that primarily affects kidney function. This condition, which can occur at any age, causes abnormal blood clots (thrombi) to form in small blood vessels in the kidneys. These clots can cause serious medical problems if they restrict or block blood flow. Atypical hemolytic-uremic syndrome is characterized by three major features related to abnormal clotting: hemolytic anemia, thrombocytopenia, and kidney failure.
  • 716
  • 24 Dec 2020
Topic Review
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia is a defect in the diaphragm.
  • 716
  • 24 Dec 2020
Topic Review
Epitranscriptomics
Epitranscriptomics means the field of RNA modifications, which has been extended to other RNA molecules, including protein-coding genes, microRNAs (miRNAs) and long non-coding RNAs (lncRNAs). 
  • 716
  • 18 May 2021
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