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Topic Review
Fragile X-associated Primary Ovarian Insufficiency
Fragile X-associated primary ovarian insufficiency (FXPOI) is a condition that affects women and is characterized by reduced function of the ovaries. The ovaries are the female reproductive organs in which egg cells are produced. As a form of primary ovarian insufficiency, FXPOI can cause irregular menstrual cycles, early menopause, an inability to have children (infertility), and elevated levels of a hormone known as follicle stimulating hormone (FSH). FSH is produced in both males and females and helps regulate the development of reproductive cells (eggs in females and sperm in males). In females, the level of FSH rises and falls, but overall it increases as a woman ages. In younger women, elevated levels may indicate early menopause and fertility problems.
  • 793
  • 25 Dec 2020
Topic Review
PDHX Gene
pyruvate dehydrogenase complex component X
  • 793
  • 25 Dec 2020
Topic Review
PHKG2 Gene
phosphorylase kinase catalytic subunit gamma 2
  • 793
  • 25 Dec 2020
Topic Review
UROD Gene
Uroporphyrinogen decarboxylase.
  • 792
  • 23 Dec 2020
Topic Review
SURF1 Gene
SURF1, cytochrome c oxidase assembly factor: The SURF1 gene provides instructions for making a protein that is important in oxidative phosphorylation, the process by which the energy from food is converted into a form cells can use. 
  • 792
  • 24 Dec 2020
Topic Review
RAPADILINO Syndrome
RAPADILINO syndrome is a rare condition that involves many parts of the body. Bone development is especially affected, causing many of the characteristic features of the condition.
  • 792
  • 24 Dec 2020
Topic Review
PMM2-Congenital Disorder of Glycosylation
PMM2-congenital disorder of glycosylation (PMM2-CDG, also known as congenital disorder of glycosylation type Ia) is an inherited condition that affects many parts of the body. The type and severity of problems associated with PMM2-CDG vary widely among affected individuals, sometimes even among members of the same family.
  • 792
  • 07 Mar 2021
Topic Review
SERPINC1 Gene
serpin family C member 1
  • 792
  • 24 Dec 2020
Topic Review
SLC2A9 Gene
solute carrier family 2 member 9
  • 792
  • 24 Dec 2020
Topic Review
FGFR4 Gene
Fibroblast growth factor receptor 4: The FGFR4 gene provides instructions for making a protein called fibroblast growth factor receptor 4. 
  • 792
  • 25 Dec 2020
Topic Review
Episodic Ataxia
Episodic ataxia is a group of related conditions that affect the nervous system and cause problems with movement. People with episodic ataxia have recurrent episodes of poor coordination and balance (ataxia). During these episodes, many people also experience dizziness (vertigo), nausea and vomiting, migraine headaches, blurred or double vision, slurred speech, and ringing in the ears (tinnitus). Seizures, muscle weakness, and paralysis affecting one side of the body (hemiplegia) may also occur during attacks. Additionally, some affected individuals have a muscle abnormality called myokymia during or between episodes. This abnormality can cause muscle cramping, stiffness, and continuous, fine muscle twitching that appears as rippling under the skin.
  • 792
  • 25 Dec 2020
Topic Review
Familial Restrictive Cardiomyopathy
Familial restrictive cardiomyopathy is a genetic form of heart disease. For the heart to beat normally, the heart (cardiac) muscle must contract and relax in a coordinated way. Oxygen-rich blood from the lungs travels first through the upper chambers of the heart (the atria), and then to the lower chambers of the heart (the ventricles).
  • 792
  • 25 Dec 2020
Topic Review
Mandibuloacral Dysplasia
Mandibuloacral dysplasia is a condition that causes a variety of abnormalities involving bone development, skin coloring (pigmentation), and fat distribution.
  • 791
  • 23 Dec 2020
Topic Review
Trichothiodystrophy
Trichothiodystrophy, which is commonly called TTD, is a rare inherited condition that affects many parts of the body. The hallmark of this condition is brittle hair that is sparse and easily broken. Tests show that the hair is lacking sulfur, an element that normally gives hair its strength.
  • 791
  • 23 Dec 2020
Topic Review
Glutathione Synthetase Deficiency
Glutathione synthetase deficiency is a disorder that prevents the production of an important molecule called glutathione. Glutathione helps prevent damage to cells by neutralizing harmful molecules generated during energy production. Glutathione also plays a role in processing medications and cancer-causing compounds (carcinogens), and building DNA, proteins, and other important cellular components.
  • 790
  • 01 Feb 2021
Topic Review
Mitochondrial Trifunctional Protein Deficiency
Mitochondrial trifunctional protein deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).
  • 790
  • 23 Dec 2020
Topic Review
Langerhans Cell Histiocytosis
Langerhans cell histiocytosis is a disorder in which excess immune system cells called Langerhans cells build up in the body.
  • 790
  • 23 Dec 2020
Topic Review
CFH Gene
complement factor H
  • 790
  • 24 Dec 2020
Topic Review
Protein S Deficiency
Protein S deficiency is a disorder of blood clotting. People with this condition have an increased risk of developing abnormal blood clots.
  • 790
  • 24 Dec 2020
Topic Review
JAG1 Gene
Jagged 1
  • 789
  • 23 Dec 2020
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