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Results 1 - 10 of 22 for Abnormal base excess
  1. Carbonic anhydrase VA deficiency 
    ... known as metabolic crisis) and brain function is abnormal (known as acute ... with acid-base balance in the blood (metabolic acidosis and respiratory ...
    https://medlineplus.gov/.../carbonic-anhydrase-va-deficiency - Genetics
  2. Trichohepatoenteric syndrome 
    ... within cells to help recognize and break down excess or abnormal messenger RNA (mRNA) molecules. mRNA is a chemical ... protein production. Studies suggest that getting rid of excess and abnormal mRNA is important for cell growth.Variants in ...
    https://medlineplus.gov/.../condition/trichohepatoenteric-syndrome - Genetics
  3. X-linked acrogigantism 
    ... pituitary hyperplasia and a pituitary neuroendocrine tumor. The abnormal gland releases excess amounts of growth hormone, a hormone that normally ... of the body's bones and tissues. The abnormal gland can also release excess amounts of another hormone called prolactin, which helps ...
    https://medlineplus.gov/genetics/condition/x-linked-acrogigantism - Genetics
  4. Hajdu-Cheney syndrome 
    ... osteoporosis, and distinctive facial features, likely result from abnormal bone development and remodeling. Excess signaling through the overactive Notch2 receptor may increase ...
    https://medlineplus.gov/genetics/condition/hajdu-cheney-syndrome - Genetics
  5. McCune-Albright syndrome 
    ... symptoms. The pituitary gland (a structure at the base of the brain that makes several hormones) may produce too much growth hormone. Excess growth hormone can result in acromegaly, a condition ...
    https://medlineplus.gov/genetics/condition/mccune-albright-syndrome - Genetics
  6. Erdheim-Chester disease 
    ... lower legs and upper arms, due to an abnormal increase in bone density (osteosclerosis). Damage to the pituitary gland (a structure at the base of the brain that produces several hormones, including ...
    https://medlineplus.gov/genetics/condition/erdheim-chester-disease - Genetics
  7. Carney complex 
    ... the pituitary gland, which is located at the base of the brain. A pituitary adenoma usually results in the production of too much growth hormone. Excess growth hormone leads to acromegaly, a condition characterized ...
    https://medlineplus.gov/genetics/condition/carney-complex - Genetics
  8. 5q minus syndrome 
    ... common finding in people with 5q- syndrome is abnormal cells described as hypolobated megakaryocytes. In addition, some individuals with 5q- syndrome have an excess of platelets, while others have normal numbers of ...
    https://medlineplus.gov/genetics/condition/5q-minus-syndrome - Genetics
  9. MECP2 duplication syndrome 
    ... the MECP2 gene leads to the production of excess MeCP2 protein and an increase in protein function. The resulting changes in gene regulation and protein production in the brain lead to abnormal nerve cell (neuronal) function. These neuronal changes disrupt ...
    https://medlineplus.gov/.../condition/mecp2-duplication-syndrome - Genetics
  10. SLC40A1 gene 
    ... absorb too much iron from the diet. The excess iron accumulates in, and eventually damages, the body's tissues and organs.Almost all SLC40A1 gene mutations change a single protein building block (amino acid) in ferroportin. Abnormal ferroportin proteins cannot transport and release iron from ...
    https://medlineplus.gov/genetics/gene/slc40a1 - Genetics
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