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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SCN8A Gene
sodium voltage-gated channel alpha subunit 8
  • 290
  • 24 Dec 2020
Topic Review
SCN5A Gene
sodium voltage-gated channel alpha subunit 5
  • 344
  • 24 Dec 2020
Topic Review
Combined Malonic and Methylmalonic Mciduria
Combined malonic and methylmalonic aciduria (CMAMMA) is a condition characterized by high levels of certain chemicals, known as malonic acid and methylmalonic acid, in the body. A distinguishing feature of this condition is higher levels of methylmalonic acid than malonic acid in the urine, although both are elevated.
  • 536
  • 24 Dec 2020
Topic Review
REN-related Kidney Disease
REN-related kidney disease is an inherited condition that affects kidney function.
  • 548
  • 24 Dec 2020
Topic Review
DMPK Gene
DM1 Protein Kinase: The DMPK gene provides instructions for making a protein called myotonic dystrophy protein kinase. 
  • 604
  • 24 Dec 2020
Topic Review
Color Vision Deficiency
Color vision deficiency (sometimes called color blindness) represents a group of conditions that affect the perception of color. 
  • 396
  • 24 Dec 2020
Topic Review
Au-Kline Syndrome
Au-Kline syndrome is a condition that affects many body systems. Individuals with this condition typically have weak muscle tone (hypotonia), intellectual disability, and delayed development. Speech is delayed in children with Au-Kline syndrome, and some are able to say only one or a few words or are never able to speak. In addition, affected children learn to walk later than usual, and some are never able to walk on their own.
  • 1.5K
  • 24 Dec 2020
Topic Review
Coloboma
Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in one of several parts of the eye, including the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or the optic nerves, which carry information from the eyes to the brain.
  • 609
  • 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.
  • 307
  • 24 Dec 2020
Topic Review
DMD Gene
Dystrophin: DMD, the largest known human gene, provides instructions for making a protein called dystrophin. 
  • 366
  • 24 Dec 2020
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