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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TCOF1 Gene
Treacle ribosome biogenesis factor 1: The TCOF1 gene provides instructions for making a protein called treacle.
  • 439
  • 24 Dec 2020
Topic Review
Complete LCAT Deficiency
Complete LCAT deficiency is a disorder that primarily affects the eyes and kidneys.
  • 300
  • 24 Dec 2020
Topic Review
TCN2 Gene
Transcobalamin 2: The TCN2 gene provides instructions for making a protein called transcobalamin (formerly known as transcobalamin II).
  • 416
  • 24 Dec 2020
Topic Review
Recurrent Hydatidiform Mole
Recurrent hydatidiform mole is a condition that affects women and is characterized by the occurrence of at least two abnormal pregnancies that result in the formation of hydatidiform moles.
  • 302
  • 24 Dec 2020
Topic Review
Pachyonychia Congenita
Pachyonychia congenita is a condition that primarily affects the skin and nails. The signs and symptoms of this condition usually become apparent within the first few years of life.
  • 340
  • 24 Dec 2020
Topic Review
Complement Factor I Deficiency
Complement factor I deficiency is a disorder that affects the immune system. People with this condition are prone to recurrent infections, including infections of the upper respiratory tract, ears, skin, and urinary tract. They may also contract more serious infections such as pneumonia, meningitis, and sepsis, which may be life-threatening.
  • 453
  • 24 Dec 2020
Topic Review
PURA Syndrome
PURA syndrome is a condition characterized by intellectual disability and delayed development of speech and motor skills, such as walking.
  • 575
  • 24 Dec 2020
Topic Review
Complement Component 8 Deficiency
Complement component 8 deficiency is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria.
  • 393
  • 24 Dec 2020
Topic Review
Recombinant 8 Syndrome
Recombinant 8 syndrome is a condition that involves heart and urinary tract abnormalities, moderate to severe intellectual disability, and a distinctive facial appearance. The characteristic facial features include a wide, square face; a thin upper lip; a downturned mouth; a small chin (micrognathia); wide-set eyes (hypertelorism); and low-set or unusually shaped ears. People with recombinant 8 syndrome may have overgrowth of the gums (gingival hyperplasia) and abnormal tooth development. Males with this condition frequently have undescended testes (cryptorchidism). Some affected individuals have recurrent ear infections (otitis media) or hearing loss. Many children with recombinant 8 syndrome do not survive past early childhood, usually due to complications related to their heart abnormalities.
  • 522
  • 24 Dec 2020
Topic Review
Complement Component 2 Deficiency
Complement component 2 deficiency is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria and viruses.
  • 435
  • 24 Dec 2020
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