Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
gptkb:monogenic_diabetes |
| gptkbp:alsoKnownAs |
HNF4A-MODY
|
| gptkbp:firstDescribed |
1996
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:inheritanceRiskPerChild |
50%
|
| gptkbp:locatedOnChromosome |
chromosome 20q13
|
| gptkbp:mutationAssociatedWith |
HNF4A gene
|
| gptkbp:OMIM |
125850
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
MODY2
MODY3 |
| gptkbp:symptom |
early-onset diabetes
mild hyperglycemia progressive beta-cell dysfunction |
| gptkbp:treatment |
sulfonylureas
insulin (in some cases) |
| gptkbp:bfsParent |
gptkb:ENSG00000120738
|
| gptkbp:bfsLayer |
7
|
| https://www.w3.org/2000/01/rdf-schema#label |
MODY1
|