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| MODY 4 | |
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| Specialty | Endocrinology |
MODY 4orPDX1-MODY is a form of maturity onset diabetes of the young.
MODY 4 arises from mutations of the PDX1 homeobox gene on chromosome 13. Pdx-1 is a transcription factor vital to the development of the embryonic pancreas. Even in adults it continues to play a role in the regulation and expression of genes for insulin, GLUT2, glucokinase, and somatostatin.
MODY 4 is so rare that only a single family has been well-studied. A child born with pancreatic agenesis (absence of the pancreas) was found to be homozygous for Pdx-1 mutations. A number of older relatives who were heterozygous had mild hyperglycemia or diabetes. None were severely insulin-deficient and all were controlled with either diet or oral hypoglycemic agents.
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Disease of the pancreas and glucose metabolism
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| Diabetes |
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| Abnormal blood glucose levels |
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| Insulin disorders |
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| Other pancreatic disorders and conditions |
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Genetic disorders relating to deficiencies of transcription factor or coregulators
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| (1) Basic domains |
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| (2) Zinc finger DNA-binding domains |
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| (3) Helix-turn-helix domains |
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| (4) β-Scaffold factors with minor groove contacts |
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| (0) Other transcription factors |
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| Ungrouped |
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| Transcription coregulators |
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