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.

Expand All
Entries
Topic Review
Primary Localized Cutaneous Amyloidosis
Primary localized cutaneous amyloidosis (PLCA) is a condition in which clumps of abnormal proteins called amyloids build up in the skin, specifically in the wave-like projections (dermal papillae) between the top two layers of skin (the dermis and the epidermis). The primary feature of PLCA is patches of skin with abnormal texture or color. The appearance of these patches defines three forms of the condition: lichen amyloidosis, macular amyloidosis, and nodular amyloidosis.
  • 388
  • 24 Dec 2020
Topic Review
SMCHD1 Gene
structural maintenance of chromosomes flexible hinge domain containing 1
  • 286
  • 24 Dec 2020
Topic Review
SMC3 Gene
structural maintenance of chromosomes 3
  • 475
  • 24 Dec 2020
Topic Review
Primary Hyperoxaluria
Primary hyperoxaluria is a rare condition characterized by recurrent kidney and bladder stones. The condition often results in end stage renal disease (ESRD), which is a life-threatening condition that prevents the kidneys from filtering fluids and waste products from the body effectively.
  • 514
  • 24 Dec 2020
Topic Review
SMARCB1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
  • 400
  • 24 Dec 2020
Topic Review
EVC2 Gene
EvC ciliary complex subunit 2
  • 340
  • 24 Dec 2020
Topic Review
Dyskeratosis Congenita
Dyskeratosis congenita is a disorder that can affect many parts of the body. There are three features that are characteristic of this disorder: fingernails and toenails that grow poorly or are abnormally shaped (nail dystrophy); changes in skin coloring (pigmentation), especially on the neck and chest, in a pattern often described as "lacy"; and white patches inside the mouth (oral leukoplakia).
  • 433
  • 24 Dec 2020
Topic Review
SMARCA4 Gene
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
  • 318
  • 24 Dec 2020
Topic Review
Dyserythropoietic Anemia and Thrombocytopenia
Dyserythropoietic anemia and thrombocytopenia is a condition that affects blood cells and primarily occurs in males. A main feature of this condition is a type of anemia called dyserythropoietic anemia, which is characterized by a shortage of red blood cells.
  • 332
  • 24 Dec 2020
Topic Review
Primary Familial Brain Calcification
Primary familial brain calcification is a condition characterized by abnormal deposits of calcium (calcification) in blood vessels within the brain. These calcium deposits are visible only on medical imaging and typically occur in the basal ganglia, which are structures deep within the brain that help start and control movement of the body. Other brain regions may also be affected.
  • 379
  • 24 Dec 2020
  • Page
  • of
  • 215

Featured Entry Collections

>>