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Results 1 - 10 of 110 for Reduced protein C activity
  1. Protein C deficiency 
    ... that result in the production of an altered protein C with reduced activity. Both types of mutations can be associated with mild or severe protein C deficiency; the severity is determined by the number ...
    https://medlineplus.gov/genetics/condition/protein-c-deficiency - Genetics
  2. Hennekam syndrome 
    ... result in a FAT4 protein with decreased function. Reduced FAT4 protein activity seems to impair normal development of the lymphatic ...
    https://medlineplus.gov/genetics/condition/hennekam-syndrome - Genetics
  3. Hartnup disease 
    ... mutations result in the production of a B0AT1 protein with reduced activity. As a result, specific amino acids cannot be ...
    https://medlineplus.gov/genetics/condition/hartnup-disease - Genetics
  4. Sotos syndrome 
    ... producing any functional protein. Research suggests that a reduced amount of NSD1 protein disrupts the normal activity of genes involved in growth and development. However, ...
    https://medlineplus.gov/genetics/condition/sotos-syndrome - Genetics
  5. Familial dysautonomia 
    ... particularly brain cells—have very little of the protein. Critical activities in brain cells are probably disrupted by reduced amounts or the absence of ELP1 protein, leading ...
    https://medlineplus.gov/genetics/condition/familial-dysautonomia - Genetics
  6. Leigh syndrome 
    ... mtDNA variants associated with Leigh syndrome decrease the activity of other oxidative phosphorylation protein complexes or lead to reduced formation of mitochondrial proteins, all of which impair ...
    https://medlineplus.gov/genetics/condition/leigh-syndrome - Genetics
  7. Trichorhinophalangeal syndrome type I 
    ... production of an altered TRPS1 protein. The altered protein has a reduced ability to control the activity of genes that regulate the growth of bone ...
    https://medlineplus.gov/.../trichorhinophalangeal-syndrome-type-i - Genetics
  8. Feingold syndrome 
    ... protein or miRNAs is available to control the activity of specific genes during development. It remains unclear how a reduced amount of the MYCN protein or miR-17~92 cluster miRNAs cause the ...
    https://medlineplus.gov/genetics/condition/feingold-syndrome - Genetics
  9. DOLK-congenital disorder of glycosylation 
    ... to the production of abnormal dolichol kinase with reduced or absent activity. Without properly functioning dolichol kinase, dolichol phosphate is not produced and glycosylation cannot proceed normally. In particular, a protein known to stabilize heart muscle fibers, called alpha- ...
    https://medlineplus.gov/...dolk-congenital-disorder-of-glycosylation - Genetics
  10. Pyruvate dehydrogenase deficiency 
    ... E1 alpha protein or result in an abnormal protein that cannot function properly. A decrease in functional E1 alpha leads to reduced activity of the pyruvate dehydrogenase complex.Other components of ...
    https://medlineplus.gov/.../pyruvate-dehydrogenase-deficiency - Genetics
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