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Results 1 - 10 of 20 for Abnormal homeostasis
  1. VEXAS syndrome 
    ... of being broken down, which may contribute to abnormal activation of immune cells or cell damage and death. This protein buildup also disrupts protein homeostasis. Old proteins must be removed before cells can ...
    https://medlineplus.gov/genetics/condition/vexas-syndrome - Genetics
  2. X-linked infantile spinal muscular atrophy 
    ... the production of an enzyme with reduced or abnormal function. As a result, ... protein homeostasis. Old proteins must be removed before cells can ...
    https://medlineplus.gov/...-linked-infantile-spinal-muscular-atrophy - Genetics
  3. Type A insulin resistance syndrome 
    ... Extreme insulin resistance with acanthosis nigricans, hirsutism and abnormal insulin receptors Insulin resistance - type A Insulin resistance ...
    https://medlineplus.gov/.../type-a-insulin-resistance-syndrome - Genetics
  4. Progressive pseudorheumatoid dysplasia 
    ... and 8. The first indications are usually an abnormal walking pattern, weakness and fatigue when active, and ... are abnormally shaped (beaked), which leads to an abnormal front-to-back curvature of the spine (kyphosis) ...
    https://medlineplus.gov/.../progressive-pseudorheumatoid-dysplasia - Genetics
  5. Primary familial brain calcification 
    ... a major role in regulating phosphate levels (phosphate homeostasis) by transporting phosphate across cell membranes. SLC20A2 gene ... also have roles in cell signaling and phosphate homeostasis.Researchers suggest that calcium deposits lead to the ...
    https://medlineplus.gov/.../primary-familial-brain-calcification - Genetics
  6. Hyperphosphatemic familial tumoral calcinosis 
    ... regulation of phosphate levels within the body (phosphate homeostasis). Among its many functions, phosphate plays a critical ... of O-glycosylation in the maintenance of phosphate homeostasis. Biochim Biophys Acta. 2009 Sep;1792(9):847- ...
    https://medlineplus.gov/...rphosphatemic-familial-tumoral-calcinosis - Genetics
  7. X-linked sideroblastic anemia and ataxia 
    ... helps maintain an appropriate balance of iron (iron homeostasis) in developing red blood cells.ABCB7 mutations slightly ... its usual role in heme production and iron homeostasis. Anemia results when heme cannot be produced normally, ...
    https://medlineplus.gov/.../x-linked-sideroblastic-anemia-and-ataxia - Genetics
  8. Mitochondrial membrane protein-associated neurodegeneration 
    ... fat (lipid) molecules, a process known as lipid homeostasis.The gene mutations that cause this condition lead ... there is a link between problems with lipid homeostasis and brain iron accumulation and how these abnormalities ...
    https://medlineplus.gov/...rane-protein-associated-neurodegeneration - Genetics
  9. Multiminicore disease 
    ... in maintaining an appropriate balance of calcium (calcium homeostasis) in cells. Calcium plays an important role in ... and the calcium channel that it forms. The abnormal calcium channel alters the normal flow of stored ...
    https://medlineplus.gov/genetics/condition/multiminicore-disease - Genetics
  10. Migraine 
    ... the balance between vascular injury and repair (vascular homeostasis) also likely underlie the increased risk of stroke ...
    https://medlineplus.gov/genetics/condition/migraine - Genetics
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