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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X-linked Adrenoleukodystrophy
X-linked adrenoleukodystrophy is a genetic disorder that occurs primarily in males. It mainly affects the nervous system and the adrenal glands, which are small glands located on top of each kidney. In this disorder, the fatty covering (myelin) that insulates nerves in the brain and spinal cord is prone to deterioration (demyelination), which reduces the ability of the nerves to relay information to the brain. In addition, damage to the outer layer of the adrenal glands (adrenal cortex) causes a shortage of certain hormones (adrenocortical insufficiency). Adrenocortical insufficiency may cause weakness, weight loss, skin changes, vomiting, and coma.  
  • 534
  • 24 Dec 2020
Topic Review
CLN3 Gene
CLN3, battenin
  • 380
  • 24 Dec 2020
Topic Review
CLCNKB Gene
chloride voltage-gated channel Kb
  • 308
  • 24 Dec 2020
Topic Review
Rippling Muscle Disease
Rippling muscle disease is a condition in which the muscles are unusually sensitive to movement or pressure (irritable).
  • 940
  • 24 Dec 2020
Topic Review
X-linked adrenal Hypoplasia Congenita
X-linked adrenal hypoplasia congenita is a disorder that mainly affects males. It involves many hormone-producing (endocrine) tissues in the body, particularly a pair of small glands on top of each kidney called the adrenal glands. These glands produce a variety of hormones that regulate many essential functions in the body.
  • 562
  • 24 Dec 2020
Topic Review
CLCNKA Gene
chloride voltage-gated channel Ka
  • 296
  • 24 Dec 2020
Topic Review
Cap Myopathy
Cap myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face, neck, and limbs. The muscle weakness, which begins at birth or during childhood, can worsen over time.
  • 503
  • 24 Dec 2020
Topic Review
X-linked Acrogigantism
X-linked acrogigantism (X-LAG) is a condition that causes abnormally fast growth beginning early in life. Babies with this condition are a normal size at birth but begin to grow rapidly in infancy or early childhood, and affected children are taller than their peers.  
  • 555
  • 24 Dec 2020
Topic Review
CLCN1 Gene
chloride voltage-gated channel 1
  • 397
  • 24 Dec 2020
Topic Review
Cantú Syndrome
Cantú syndrome is a rare condition characterized by excess hair growth (hypertrichosis), a distinctive facial appearance, heart defects, and several other abnormalities. The features of the disorder vary among affected individuals.
  • 416
  • 24 Dec 2020
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