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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Autosomal Dominant Hyper-IgE Syndrome
Autosomal dominant hyper-IgE syndrome (AD-HIES), formerly known as Job syndrome, is a condition that affects several body systems, particularly the immune system. Recurrent infections are common in people with this condition. Affected individuals tend to have frequent bouts of pneumonia, which are caused by certain kinds of bacteria that infect the lungs and cause inflammation. Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). However, excessive inflammation can damage body tissues. Recurring pneumonia often results in the formation of air-filled cysts (pneumatoceles) in the lungs. Frequent skin infections and an inflammatory skin disorder called eczema are also very common in AD-HIES. These skin problems cause rashes, blisters, accumulations of pus (abscesses), open sores, and scaling.
  • 483
  • 24 Dec 2020
Topic Review
Congenital Central Hypoventilation Syndrome
Congenital central hypoventilation syndrome (CCHS) is a disorder that affects normal breathing.
  • 351
  • 24 Dec 2020
Topic Review
Autoimmune Polyendocrinopathy-candidiasis-ectodermal Dystrophy
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an inherited condition that affects many of the body's organs. It is one of many autoimmune diseases, which are disorders that occur when the immune system malfunctions and attacks the body's own tissues and organs by mistake.
  • 449
  • 24 Dec 2020
Topic Review
Renal Coloboma Syndrome
Renal coloboma syndrome (also known as papillorenal syndrome) is a condition that primarily affects kidney (renal) and eye development.
  • 332
  • 24 Dec 2020
Topic Review
Autoimmune Lymphoproliferative Syndrome
Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). ALPS is characterized by the production of an abnormally large number of lymphocytes (lymphoproliferation). Accumulation of excess lymphocytes results in enlargement of the lymph nodes (lymphadenopathy), the liver (hepatomegaly), and the spleen (splenomegaly).
  • 417
  • 24 Dec 2020
Topic Review
Congenital Afibrinogenemia
Congenital afibrinogenemia is a bleeding disorder caused by impairment of the blood clotting process.
  • 488
  • 24 Dec 2020
Topic Review
Cone-Rod Dystrophy
Cone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.
  • 428
  • 24 Dec 2020
Topic Review
Refsum Disease
Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell (anosmia), and a variety of other signs and symptoms.
  • 338
  • 24 Dec 2020
Topic Review
TECPR2 Gene
Tectonin beta-propeller repeat containing 2: The TECPR2 gene provides instructions for making a protein that is involved in a cellular process called autophagy. 
  • 365
  • 24 Dec 2020
Topic Review
Paget Disease of Bone
Paget disease of bone is a disorder that causes bones to grow larger and weaker than normal. Affected bones may be misshapen and easily broken (fractured).
  • 369
  • 24 Dec 2020
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