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Results 1 - 6 of 6 for Liver "disease," severe congenital
  1. GNE gene 
    ... Study Group. Mutation in GNE is associated with severe congenital thrombocytopenia. Blood. 2018 Oct 25;132(17):1855- ...
    https://medlineplus.gov/genetics/gene/gne - Genetics
  2. HNF1B gene 
    ... vary in severity and are grouped together as congenital anomalies of kidney and urinary tract (CAKUT). The most severe CAKUT abnormalities can cause kidney damage and life- ...
    https://medlineplus.gov/genetics/gene/hnf1b - Genetics
  3. GBE1 gene 
    ... mutations that cause GSD IV lead to a severe shortage or complete absence of ... liver and liver disease. The inability of muscle cells to break down ...
    https://medlineplus.gov/genetics/gene/gbe1 - Genetics
  4. F9 gene 
    ... the activity of coagulation factor IX result in severe hemophilia. Mutations that reduce but do not eliminate ... from clotting normally and can lead to recurrent, severe bleeding problems. To avoid these complications, people with ...
    https://medlineplus.gov/genetics/gene/f9 - Genetics
  5. HADH gene 
    ... hyperinsulinemic hypoglycemia: characterization of a novel mutation and severe dietary protein sensitivity. J Clin Endocrinol Metab. 2009 ...
    https://medlineplus.gov/genetics/gene/hadh - Genetics
  6. WFS1 gene 
    ... likely explains why Wolfram-like syndrome is less severe than Wolfram syndrome. DFNA14 DFNA38 DFNA6 DIDMOAD WFRS ... Vialettes B. Autosomal dominant transmission of diabetes and congenital hearing impairment secondary to a missense mutation in ...
    https://medlineplus.gov/genetics/gene/wfs1 - Genetics