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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DKC1 Gene
Dyskerin Pseudouridine Synthase 1: The DKC1 gene provides instructions for making a protein called dyskerin. 
  • 360
  • 24 Dec 2020
Topic Review
Cohen Syndrome
Cohen syndrome is an inherited disorder that affects many parts of the body and is characterized by developmental delay, intellectual disability, small head size (microcephaly), and weak muscle tone (hypotonia). Other features common in this condition include worsening nearsightedness (myopia), breakdown (degeneration) of the light-sensitive tissue at the back of the eye (retinal dystrophy), an unusually large range of joint movement (hypermobility), and distinctive facial features. These facial features typically include thick hair and eyebrows, long eyelashes, unusually-shaped eyes (down-slanting and wave-shaped), a bulbous nasal tip, a smooth or shortened area between the nose and the upper lip (philtrum), and prominent upper central teeth. The combination of the last two facial features results in an open mouth.
  • 285
  • 24 Dec 2020
Topic Review
Ataxia with Oculomotor Apraxia
Ataxia with oculomotor apraxia is a condition characterized by problems with movement that worsen over time. The hallmark of this condition is poor coordination and balance (ataxia), which is often the first symptom. Most affected people also have oculomotor apraxia, which makes it difficult to move their eyes side-to-side. People with oculomotor apraxia have to turn their head to see things in their side (peripheral) vision.
  • 468
  • 24 Dec 2020
Topic Review
Orthostatic Hypotension
Orthostatic hypotension is a drop in blood pressure that occurs when moving from a laying down (supine) position to a standing (upright) position. The word "orthostasis" means to stand up, so the condition is defined as low blood pressure (hypotension) that occurs upon standing.
  • 545
  • 24 Dec 2020
Topic Review
SBDS Gene
SBDS, ribosome maturation factor
  • 464
  • 24 Dec 2020
Topic Review
Ataxia Neuropathy Spectrum
Ataxia neuropathy spectrum is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. Ataxia neuropathy spectrum now includes the conditions previously called mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO).
  • 665
  • 24 Dec 2020
Topic Review
Coffin-Siris Syndrome
Coffin-Siris syndrome is a condition that affects several body systems. Although there are many variable signs and symptoms, hallmarks of this condition include developmental disability, abnormalities of the fifth (pinky) fingers or toes, and characteristic facial features.
  • 516
  • 24 Dec 2020
Topic Review
Ornithine Translocase Deficiency
Ornithine translocase deficiency is an inherited disorder that causes ammonia and other substances to build up (accumulate) in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.
  • 459
  • 24 Dec 2020
Topic Review
ATP6V0A2 Gene
ATPase H+ transporting V0 subunit a2
  • 349
  • 24 Dec 2020
Topic Review
Pyruvate Dehydrogenase Deficiency
Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical called lactic acid in the body and a variety of neurological problems.
  • 409
  • 24 Dec 2020
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