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Topic Review
SF3B4 Gene
splicing factor 3b subunit 4
  • 831
  • 24 Dec 2020
Topic Review
Protein C Deficiency
Protein C deficiency is a disorder that increases the risk of developing abnormal blood clots; the condition can be mild or severe.
  • 831
  • 24 Dec 2020
Topic Review
Fish-eye Disease
Fish-eye disease, also called partial LCAT deficiency, is a disorder that causes the clear front surface of the eyes (the corneas) to gradually become cloudy.
  • 831
  • 25 Dec 2020
Topic Review
Primary Spontaneous Pneumothorax
Primary spontaneous pneumothorax is an abnormal accumulation of air in the space between the lungs and the chest cavity (called the pleural space) that can result in the partial or complete collapse of a lung. This type of pneumothorax is described as primary because it occurs in the absence of lung disease such as emphysema. Spontaneous means the pneumothorax was not caused by an injury such as a rib fracture. Primary spontaneous pneumothorax is likely due to the formation of small sacs of air (blebs) in lung tissue that rupture, causing air to leak into the pleural space. Air in the pleural space creates pressure on the lung and can lead to its collapse. A person with this condition may feel chest pain on the side of the collapsed lung and shortness of breath.
  • 831
  • 04 Jan 2021
Topic Review
ALAS2 Gene
5'-aminolevulinate synthase 2
  • 831
  • 24 Dec 2020
Topic Review
2-hydroxyglutaric aciduria
2-hydroxyglutaric aciduria is a condition that causes progressive damage to the brain. The major types of this disorder are called D-2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA).
  • 830
  • 23 Dec 2020
Topic Review
Hajdu-Cheney Syndrome
Hajdu-Cheney syndrome is a rare disorder that can affect many parts of the body, particularly the bones.
  • 830
  • 23 Dec 2020
Topic Review
Nager Syndrome
Nager syndrome is a rare condition that mainly affects the development of the face, hands, and arms. The severity of this disorder varies among affected individuals.
  • 830
  • 23 Dec 2020
Topic Review
Netherton Syndrome
Netherton syndrome is a disorder that affects the skin, hair, and immune system. Newborns with Netherton syndrome have skin that is red and scaly (ichthyosiform erythroderma), and the skin may leak fluid. Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane.
  • 830
  • 23 Dec 2020
Topic Review
SERPINA6 Gene
serpin family A member 6
  • 830
  • 24 Dec 2020
Topic Review
ABCA1 Gene
ATP binding cassette subfamily A member 1
  • 830
  • 24 Dec 2020
Topic Review
GCH1 Gene
GTP cyclohydrolase 1: The GCH1 gene provides instructions for making an enzyme called GTP cyclohydrolase 1. 
  • 830
  • 25 Dec 2020
Topic Review
Foetal Programming
Foetal programming is a theory that suggests that the environment of the foetus during development affects their disease risk later in life. The three main routes of this programming are through maternal environment causing: These maternal environmental changes can be through nutritional changes, hormonal changes or exposure to toxins.
  • 830
  • 24 Nov 2022
Topic Review
Rhizomelic Chondrodysplasia Punctata
Rhizomelic chondrodysplasia punctata is a condition that impairs the normal development of many parts of the body.
  • 829
  • 24 Dec 2020
Topic Review
DUOX2 Gene
Dual Oxidase 2: The DUOX2 gene provides instructions for making an enzyme called dual oxidase 2. 
  • 829
  • 24 Dec 2020
Topic Review
SMAD4 Gene
SMAD family member 4
  • 829
  • 24 Dec 2020
Topic Review
FOXP2-related Speech and Language Sisorder
FOXP2-related speech and language disorder is a condition that affects the development of speech and language starting in early childhood. Affected individuals have a speech problem known as apraxia, which makes it difficult to produce sequences of sounds, syllables, and words.
  • 829
  • 25 Dec 2020
Topic Review
Bone-Related RTT
Rett syndrome (RTT) is a monogenic neurodevelopmental disorder primarily caused by mutations in X-linked MECP2 gene, encoding for methyl-CpG binding protein 2 (MeCP2), a multifaceted modulator of gene expression and chromatin organization. 
  • 829
  • 02 Jul 2021
Topic Review
Glycogen Storage Disease Type IV
Glycogen storage disease type IV (GSD IV) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. There are five types of GSD IV, which are distinguished by their severity, signs, and symptoms.
  • 828
  • 23 Dec 2020
Topic Review
Aniridia
Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris). These iris abnormalities may cause the pupils to be abnormal or misshapen. Aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia).
  • 828
  • 24 Dec 2020
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