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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SUCLA2 Gene
Succinate-CoA ligase ADP-forming beta subunit: The SUCLA2 gene provides instructions for making one part (a beta subunit) of an enzyme called succinate-CoA ligase.
  • 404
  • 24 Dec 2020
Topic Review
STXBP1 Gene
Syntaxin binding protein 1: The STXBP1 gene provides instructions for making syntaxin-binding protein 1.
  • 373
  • 24 Dec 2020
Topic Review
WNT10A Gene
WNT family member 10A.
  • 373
  • 24 Dec 2020
Topic Review
Chediak-Higashi Syndrome
Chediak-Higashi syndrome is a condition that affects many parts of the body, particularly the immune system. This disease damages immune system cells, leaving them less able to fight off invaders such as viruses and bacteria. As a result, most people with Chediak-Higashi syndrome have repeated and persistent infections starting in infancy or early childhood. These infections tend to be very serious or life-threatening.
  • 433
  • 24 Dec 2020
Topic Review
Char Syndrome
Char syndrome is a condition that affects the development of the face, heart, and limbs. It is characterized by a combination of three major features: a distinctive facial appearance, a heart defect called patent ductus arteriosus, and hand abnormalities.
  • 406
  • 24 Dec 2020
Topic Review
Pulmonary Alveolar Microlithiasis
Pulmonary alveolar microlithiasis is a disorder in which many tiny fragments (microliths) of a compound called calcium phosphate gradually accumulate in the small air sacs (alveoli) located throughout the lungs.
  • 451
  • 24 Dec 2020
Topic Review
Chanarin-Dorfman Syndrome
Chanarin-Dorfman syndrome is a condition in which fats (lipids) are stored abnormally in the body. The signs and symptoms vary greatly among individuals with Chanarin-Dorfman syndrome. Some people may have ichthyosis only, while others may have problems affecting many areas of the body.
  • 360
  • 24 Dec 2020
Topic Review
Psoriatic Arthritis
Psoriatic arthritis is a condition involving joint inflammation (arthritis) that usually occurs in combination with a skin disorder called psoriasis.
  • 469
  • 24 Dec 2020
Topic Review
WNK1 Gene
WNK lysine deficient protein kinase 1.
  • 407
  • 24 Dec 2020
Topic Review
Cerebrotendinous Xanthomatosis
Cerebrotendinous xanthomatosis is a disorder characterized by abnormal storage of fats (lipids) in many areas of the body.
  • 280
  • 24 Dec 2020
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