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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Topic Review
CDC73 Gene
cell division cycle 73
  • 403
  • 24 Dec 2020
Topic Review
CLCN2-Related Leukoencephalopathy
CLCN2-related leukoencephalopathy is a disorder that affects the brain. People with this condition have neurological problems that become apparent anytime from childhood to adulthood; the problems generally do not worsen much over time. Most affected individuals have difficulty with coordination and balance (ataxia) but can walk without support, and many have frequent headaches. Individuals diagnosed in childhood usually also have learning disabilities, while those whose symptoms begin in adulthood typically also have vision problems. These vision problems are due to breakdown of the light-sensing tissue at the back of the eyes (retinopathy) or degeneration (atrophy) of the optic nerves, which carry information from the eyes to the brain. Some affected individuals have mild muscle stiffness (spasticity). Affected males are unable to father children (infertile).
  • 421
  • 24 Dec 2020
Topic Review
CHST3-Related Skeletal Dysplasia
CHST3-related skeletal dysplasia is a genetic condition characterized by bone and joint abnormalities that worsen over time. Affected individuals have short stature throughout life, with an adult height under 4 and a half feet. Joint dislocations, most often affecting the knees, hips, and elbows, are present at birth (congenital). Other bone and joint abnormalities can include an inward- and upward-turning foot (clubfoot), a limited range of motion in large joints, and abnormal curvature of the spine. The features of CHST3-related skeletal dysplasia are usually limited to the bones and joints; however, minor heart defects have been reported in a few affected individuals.
  • 390
  • 24 Dec 2020
Topic Review
CBFB Gene
core-binding factor subunit beta
  • 321
  • 24 Dec 2020
Topic Review
CAVIN1 Gene
caveolae associated protein 1
  • 312
  • 24 Dec 2020
Topic Review
CHOPS Syndrome
CHOPS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). The name "CHOPS" is an abbreviation for a list of features of the disorder including cognitive impairment, coarse facial features, heart defects, obesity, lung (pulmonary) involvement, short stature, and skeletal abnormalities.
  • 526
  • 24 Dec 2020
Topic Review
CAV3 Gene
caveolin 3
  • 418
  • 24 Dec 2020
Topic Review
CAV1 Gene
caveolin 1
  • 305
  • 24 Dec 2020
Topic Review
CAT Gene
catalase
  • 453
  • 24 Dec 2020
Topic Review
CASR Gene
calcium sensing receptor
  • 459
  • 24 Dec 2020
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  • 215

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