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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3-Beta-Hydroxysteroid Dehydrogenase Deficiency
3-beta (β)-hydroxysteroid dehydrogenase (HSD) deficiency is an inherited disorder that affects hormone-producing glands including the gonads (ovaries in females and testes in males) and the adrenal glands. The gonads direct sexual development before birth and during puberty. The adrenal glands, which are located on top of the kidneys, regulate the production of certain hormones and control salt levels in the body. People with 3β-HSD deficiency lack many of the hormones that are made in these glands. 3β-HSD deficiency is one of a group of disorders known as congenital adrenal hyperplasias that impair hormone production and disrupt sexual development and maturation.
  • 522
  • 23 Dec 2020
Topic Review
IDH1 Gene
Isocitrate dehydrogenase (NADP(+)) 1, cytosolic
  • 348
  • 23 Dec 2020
Topic Review
Hyperkalemic Periodic Paralysis
Hyperkalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness or paralysis, usually beginning in infancy or early childhood.
  • 356
  • 23 Dec 2020
Topic Review
3-M Syndrome
3-M syndrome is a disorder that causes skeletal abnormalities including short stature (dwarfism) and unusual facial features. The name of this condition comes from the initials of three researchers who first identified it: Miller, McKusick, and Malvaux.
  • 481
  • 23 Dec 2020
Topic Review
Hyperferritinemia-Cataract Syndrome
Hyperferritinemia-cataract syndrome is a disorder characterized by an excess of an iron storage protein called ferritin in the blood (hyperferritinemia) and tissues of the body.
  • 342
  • 23 Dec 2020
Topic Review
Hyaline Fibromatosis Syndrome
Hyaline fibromatosis syndrome is a disorder in which a clear (hyaline) substance abnormally accumulates in body tissues. This disorder affects many areas of the body, including the skin, joints, bones, and internal organs.
  • 336
  • 23 Dec 2020
Topic Review
HTT Gene
Huntingtin
  • 811
  • 23 Dec 2020
Topic Review
Hutchinson-Gilford Progeria Syndrome
Hutchinson-Gilford progeria syndrome is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood.
  • 645
  • 23 Dec 2020
Topic Review
HTRA1 Gene
HtrA serine peptidase 1
  • 390
  • 23 Dec 2020
Topic Review
Huntington Disease-Like Syndrome
As its name suggests, a Huntington disease-like (HDL) syndrome is a condition that resembles Huntington disease.
  • 308
  • 23 Dec 2020
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