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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Multiple Pterygium Syndrome
Multiple pterygium syndrome is a condition that is evident before birth with webbing of the skin (pterygium) at the joints and a lack of muscle movement (akinesia) before birth. Akinesia frequently results in muscle weakness and joint deformities called contractures that restrict the movement of joints (arthrogryposis). As a result, multiple pterygium syndrome can lead to further problems with movement such as arms and legs that cannot fully extend.
  • 410
  • 23 Dec 2020
Topic Review
KRT6B Gene
Keratin 6B
  • 312
  • 23 Dec 2020
Topic Review
Multiple Mitochondrial Dysfunctions Syndrome
Multiple mitochondrial dysfunctions syndrome is characterized by impairment of cellular structures called mitochondria, which are the energy-producing centers of cells. While certain mitochondrial disorders are caused by impairment of a single stage of energy production, individuals with multiple mitochondrial dysfunctions syndrome have reduced function of more than one stage. The signs and symptoms of this severe condition begin early in life, and affected individuals usually do not live past infancy.
  • 417
  • 01 May 2021
Topic Review
CYB5R3 Gene
Cytochrome B5 Reductase 3: The CYB5R3 gene provides instruction for making an enzyme called cytochrome b5 reductase 3. 
  • 410
  • 01 May 2021
Topic Review
KRT6A Gene
Keratin 6A
  • 370
  • 01 May 2021
Topic Review
Vici Syndrome
Vici syndrome is a severe disorder that begins early in life and affects many body systems. It is characterized by abnormalities of the brain, immune system, heart, skin, and eyes. Other organs and tissues are less commonly affected.  
  • 337
  • 23 Dec 2020
Topic Review
ALG12-congenital Disorder of Glycosylation
ALG12-congenital disorder of glycosylation (ALG12-CDG, also known as congenital disorder of glycosylation type Ig) is an inherited disorder with varying signs and symptoms that can affect several body systems. Individuals with ALG12-CDG typically develop signs and symptoms of the condition during infancy. They may have problems feeding and difficulty growing and gaining weight at the expected rate (failure to thrive). In addition, affected individuals often have intellectual disability, delayed development, and weak muscle tone (hypotonia), and some develop seizures.
  • 387
  • 01 May 2021
Topic Review
KRT5 Gene
Keratin 5
  • 388
  • 23 Dec 2020
Topic Review
Multiple Familial Trichoepithelioma
Multiple familial trichoepithelioma is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as hair follicles and sweat glands. People with multiple familial trichoepithelioma typically develop large numbers of smooth, round tumors called trichoepitheliomas, which arise from hair follicles. Trichoepitheliomas are generally noncancerous (benign) but occasionally develop into a type of skin cancer called basal cell carcinoma.
  • 529
  • 23 Dec 2020
Topic Review
Vibratory Urticaria
Vibratory urticaria is a condition in which exposing the skin to vibration, repetitive stretching, or friction results in allergy symptoms such as hives (urticaria), swelling (angioedema), redness (erythema), and itching (pruritus) in the affected area.
  • 471
  • 23 Dec 2020
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