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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Congenital Plasminogen Deficiency
Congenital plasminogen deficiency is a disorder that results in inflamed growths on the mucous membranes, which are the moist tissues that line body openings such as the eyelids and the inside of the mouth. Development of the growths are usually triggered by infections or injury, but they may also occur spontaneously in the absence of known triggers. The growths may recur after being removed.
  • 387
  • 24 Dec 2020
Topic Review
Beta-Propeller Protein-Associated Neurodegeneration
Beta-propeller protein-associated neurodegeneration (BPAN) is a disorder that damages the nervous system and is progressive, which means that it gradually gets worse. Affected individuals develop a buildup of iron in the brain that can be seen with medical imaging. For this reason, BPAN is classified as a type of disorder called neurodegeneration with brain iron accumulation (NBIA), although the iron accumulation may not occur until late in the disease.
  • 520
  • 24 Dec 2020
Topic Review
BMPR2 Gene
bone morphogenetic protein receptor type 2
  • 411
  • 24 Dec 2020
Topic Review
Congenital Nephrotic Syndrome
Congenital nephrotic syndrome is a kidney condition that begins in infancy and typically leads to irreversible kidney failure (end-stage renal disease) by early childhood. Children with congenital nephrotic syndrome begin to have symptoms of the condition between birth and 3 months.
  • 354
  • 24 Dec 2020
Topic Review
Chromosome 4
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 4, one copy inherited from each parent, form one of the pairs.
  • 419
  • 24 Dec 2020
Topic Review
BLM Gene
BLM RecQ like helicase
  • 391
  • 24 Dec 2020
Topic Review
BICD2 Gene
BICD cargo adaptor 2
  • 461
  • 24 Dec 2020
Topic Review
DSP Gene
Desmoplakin: The DSP gene provides instructions for making a protein called desmoplakin. 
  • 542
  • 24 Dec 2020
Topic Review
Beta-Mannosidosis
Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body.
  • 505
  • 24 Dec 2020
Topic Review
BEST1 Gene
bestrophin 1
  • 350
  • 24 Dec 2020
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