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11 Possible Causes for Mutation in the Hepatocyte Nuclear Factor 4 Alpha Gene

  • Diabetes Mellitus

    Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha ( HNF1A ) and 4 alpha ( HNF4A ) in maturity-onset diabetes of the young. Hum.[ncbi.nlm.nih.gov] Mutat. 2006; 27 :854–869. [ PubMed ] [ Google Scholar ] 61. Osbak K.K., Colclough K., Saint-Martin C., Beer N.L., Bellanné-Chantelot C., Ellard S., Gloyn A.L.[ncbi.nlm.nih.gov]

  • Maturity-Onset Diabetes of the Young

    MODY is genetically heterogeneous with three different genes identified to date; hepatocyte nuclear factor 4 alpha (HNF-4 alpha) [MODY1], glucokinase [MODY2] and hepatocyte[ncbi.nlm.nih.gov] nuclear factor 1 alpha (HNF-1 alpha) [MODY3].[ncbi.nlm.nih.gov] A nonsense mutation in the HNF-4 alpha gene has recently been shown to cause MODY in a single large North American pedigree (RW).[ncbi.nlm.nih.gov]

  • Renal Cysts and Diabetes Syndrome

    These genes are called: [3] HNF4A (MODY1) : This is the gene that codes for a protein known as Hepatocyte Nuclear Factor-4 Alpha gene.[thediabetescouncil.com] Currently, there are 6 known genes that, when mutated or altered, can cause MODY.[thediabetescouncil.com] Babies with this mutation are often born with macrosomia—they are larger than normal (over 9 pounds). They also may have low blood sugar early in life.[thediabetescouncil.com]

  • Maternally-Inherited Diabetes and Deafness

    These are hepatocyte nuclear factor 4-alpha ( HNF4-alpha, causing MODY1, on chromosome 20), HNF1-alpha (causing MODY3, on chromosome 12), insulin promoter factor 1 ( IPF1,[medicine.jrank.org] The other MODYs involve mutations in genes that encode proteins called transcription factors, which allow beta cells to develop and function properly.[medicine.jrank.org]

  • Nesidioblastosis

    nuclear factor 4 alpha; HNF1A encoding hepatocyte nuclear factor 1 alpha; UCP2 encoding uncoupling protein 2.[journals.viamedica.pl] Summary of mutated genes involved in FHI development and responsiveness to diazoxide treatment depending on the mutated gene Gene ABCC8 KCNJ11 GCK GLUD1 Protein SUR1 Kir6.2[journals.viamedica.pl] […] dehydrogenase (GDH); HADH1 encoding 3-hydroxyacyl-CoA dehydrogenase of short-chain fatty adds (SCHAD); SLC16A1 encoding monocarboxylic acids transporter 1 (MCT1); HNF4A encoding hepatocyte[journals.viamedica.pl]

  • Maturity-Onset Diabetes of the Young Type 11

    MODY 1 - Due to mutations HNF4A gene (Hepatocyte nuclear factor-4-alpha), located on the long arm of chromosome 20 (20q13.12).[ivami.com] These genes are called: [3] HNF4A (MODY1) : This is the gene that codes for a protein known as Hepatocyte Nuclear Factor-4 Alpha gene.[thediabetescouncil.com] […] or DNA/chromosome segments Glucokinase ( GCK ), hepatocyte nuclear factor 1 alpha ( HNF1A ) and hepatocyte nuclear factor 4 alpha ( HNF4A ). 1.4 OMIM# of the gene(s) 138079[nature.com]

  • MODY Type 1

    Diabetes caused by mutations in the HNF4-alpha gene (encoding hepatocyte nuclear factor-4 alpha) is a less common type of MODY.[monogenicdiabetes.uchicago.edu] MODY 1 - Due to mutations HNF4A gene (Hepatocyte nuclear factor-4-alpha), located on the long arm of chromosome 20 (20q13.12).[ivami.com] These genes are called: [3] HNF4A (MODY1) : This is the gene that codes for a protein known as Hepatocyte Nuclear Factor-4 Alpha gene.[thediabetescouncil.com]

  • Maturity-Onset Diabetes of the Young Type 10

    […] or DNA/chromosome segments Glucokinase ( GCK ), hepatocyte nuclear factor 1 alpha ( HNF1A ) and hepatocyte nuclear factor 4 alpha ( HNF4A ). 1.4 OMIM# of the gene(s) 138079[nature.com] In clinical practice, mutations in the genes encoding the enzyme glucokinase (GCK) and the nuclear transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and hepatocyte[diapedia.org] Colclough K , Bellanne-Chantelot C , Saint-Martin C , Flanagan SE , Ellard S : Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha[nature.com]

  • Hereditary Persistence of Alpha-Fetoprotein

    . ( 18985745 ) Li X....Alexander S. 2009 4 Molecular mechanisms of hereditary persistence of alpha-fetoprotein (AFP) in two Japanese families A hepatocyte nuclear factor-1[malacards.org] […] site mutation leads to induction of the AFP gene expression in adult livers. ( 15716018 ) Nagata-Tsubouchi Y....Tsubouchi H. 2005 5 Rapid determination of alpha-fetoprotein[malacards.org] Hereditary persistence of alpha-fetoprotein mimicking testicular cancer in a patient with acute epididymitis. ( 21446891 ) Abt D....Schmid H.P. 2011 3 Hereditary persistence of alpha-fetoprotein[malacards.org]

  • Maturity-Onset Diabetes of the Young Type 2

    In clinical practice, mutations in the genes encoding the enzyme glucokinase (GCK) and the nuclear transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and hepatocyte[diapedia.org] […] or DNA/chromosome segments Glucokinase ( GCK ), hepatocyte nuclear factor 1 alpha ( HNF1A ) and hepatocyte nuclear factor 4 alpha ( HNF4A ). 1.4 OMIM# of the gene(s) 138079[nature.com] Colclough K, Bellanne-Chantelot C, Saint-Martin C, Flanagan SE, Ellard S: Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4[karger.com]

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