Summary

MedlinePlus is an online health information resource. It is a service of the National Library of Medicine (NLM), the world's largest medical library, which is part of the National Institutes of Health (NIH). To promote the transmission of knowledge, this entry collection contains information about the effects of genetic variation on human health transferred from MedlinePlus.

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Autosomal Recessive Hypotrichosis
Autosomal recessive hypotrichosis is a condition that affects hair growth. People with this condition have sparse hair (hypotrichosis) on the scalp beginning in infancy. This hair is usually coarse, dry, and tightly curled (often described as woolly hair). Scalp hair may also be lighter in color than expected and is fragile and easily broken. Affected individuals often cannot grow hair longer than a few inches. The eyebrows, eyelashes, and other body hair may be sparse as well. Over time, the hair problems can remain stable or progress to complete scalp hair loss (alopecia) and a decrease in body hair.
  • 411
  • 24 Dec 2020
Topic Review
Autosomal Recessive Congenital Methemoglobinemia
Autosomal recessive congenital methemoglobinemia is an inherited condition that mainly affects the function of red blood cells. Specifically, it alters a molecule within these cells called hemoglobin. Hemoglobin carries oxygen to cells and tissues throughout the body. In people with autosomal recessive congenital methemoglobinemia, some of the normal hemoglobin is replaced by an abnormal form called methemoglobin, which is unable to deliver oxygen to the body's tissues. As a result, tissues in the body become oxygen deprived, leading to a bluish appearance of the skin, lips, and nails (cyanosis).
  • 790
  • 24 Dec 2020
Topic Review
Congenital Fiber-Type Disproportion
Congenital fiber-type disproportion is a condition that primarily affects skeletal muscles, which are muscles used for movement.
  • 292
  • 24 Dec 2020
Topic Review
Renal Tubular Acidosis with Deafness
Renal tubular acidosis with deafness is a disorder characterized by kidney (renal) problems and hearing loss.
  • 386
  • 24 Dec 2020
Topic Review
Autosomal Dominant Vitreoretinochoroidopathy
Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a disorder that affects several parts of the eyes, including the clear gel that fills the eye (the vitreous), the light-sensitive tissue that lines the back of the eye (the retina), and the network of blood vessels within the retina (the choroid). The eye abnormalities in ADVIRC can lead to varying degrees of vision impairment, from mild reduction to complete loss, although some people with the condition have normal vision.
  • 434
  • 24 Dec 2020
Topic Review
Congenital Dyserythropoietic Anemia
Congenital dyserythropoietic anemia (CDA) is an inherited blood disorder that affects the development of red blood cells. This disorder is one of many types of anemia, which is a condition characterized by a shortage of red blood cells. This shortage prevents the blood from carrying an adequate supply of oxygen to the body's tissues. The resulting symptoms can include tiredness (fatigue), weakness, pale skin, and other complications.
  • 345
  • 24 Dec 2020
Topic Review
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia is a defect in the diaphragm.
  • 346
  • 24 Dec 2020
Topic Review
Autosomal Dominant Hypocalcemia
Autosomal dominant hypocalcemia is characterized by low levels of calcium in the blood (hypocalcemia). Affected individuals can have an imbalance of other molecules in the blood as well, including too much phosphate (hyperphosphatemia) or too little magnesium (hypomagnesemia). Some people with autosomal dominant hypocalcemia also have low levels of a hormone called parathyroid hormone (hypoparathyroidism). This hormone is involved in the regulation of calcium levels in the blood. Abnormal levels of calcium and other molecules in the body can lead to a variety of signs and symptoms, although about half of affected individuals have no associated health problems.
  • 407
  • 24 Dec 2020
Topic Review
Congenital Contractural Arachnodactyly
Congenital contractural arachnodactyly is a disorder that affects many parts of the body.
  • 384
  • 24 Dec 2020
Topic Review
Renal Hypouricemia
Renal hypouricemia is a kidney (renal) disorder that results in a reduced amount of urate in the blood.
  • 401
  • 24 Dec 2020
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