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
Pantothenate Kinase-Associated Neurodegeneration
Pantothenate kinase-associated neurodegeneration (formerly called Hallervorden-Spatz syndrome) is a disorder of the nervous system.
  • 336
  • 24 Dec 2020
Topic Review
Burn-McKeown Syndrome
Burn-McKeown syndrome is a disorder that is present from birth (congenital) and involves abnormalities of the nasal passages, characteristic facial features, hearing loss, heart abnormalities, and short stature.
  • 542
  • 24 Dec 2020
Topic Review
Riboflavin Transporter Deficiency Neuronopathy
Riboflavin transporter deficiency neuronopathy is a disorder that affects nerve cells (neurons). Affected individuals typically have hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss) and signs of damage to other nerves.
  • 340
  • 24 Dec 2020
Topic Review
NOTCH3 Gene
notch 3
  • 381
  • 24 Dec 2020
Topic Review
Bunion
A bunion, known technically as hallux valgus, is a bony bump on the side of the foot at the base of the big toe. Bunions develop slowly as pressure on the joint at the base of the big toe causes the toe to move out of place, leaning inward toward the second toe. Because this joint carries a lot of weight during activities like standing and walking, bunions can cause foot pain, stiffness, redness, and swelling. Calluses may form where the big toe and second toe rub together or on the ball of the foot. Unless they are treated, bunions get worse over time, and it may become difficult to wear regular shoes or walk without pain. Bunions can occur in one or both feet.
  • 388
  • 24 Dec 2020
Topic Review
Brooke-Spiegler Syndrome
Brooke-Spiegler syndrome is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as sweat glands and hair follicles. People with Brooke-Spiegler syndrome may develop several types of tumors, including growths called spiradenomas, trichoepitheliomas, and cylindromas. Spiradenomas develop in sweat glands. Trichoepitheliomas arise from hair follicles. The origin of cylindromas has been unclear; while previously thought to derive from sweat glands, they are now generally believed to begin in hair follicles. The tumors associated with Brooke-Spiegler syndrome are generally noncancerous (benign), but occasionally they may become cancerous (malignant). Affected individuals are also at increased risk of developing tumors in tissues other than skin appendages, particularly benign or malignant tumors of the salivary glands.
  • 508
  • 24 Dec 2020
Topic Review
NOTCH2 Gene
notch 2
  • 384
  • 24 Dec 2020
Topic Review
CACNA1D Gene
calcium voltage-gated channel subunit alpha1 D
  • 358
  • 24 Dec 2020
Topic Review
CACNA1C Gene
calcium voltage-gated channel subunit alpha1 C
  • 474
  • 24 Dec 2020
Topic Review
NOTCH1 Gene
notch 1
  • 393
  • 24 Dec 2020
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