MODY1

GPTKB entity

Statements (20)
Predicate Object
gptkbp:instanceOf genetic disorder
monogenic diabetes
gptkbp:alsoKnownAs HNF4A-MODY
gptkbp:firstDescribed 1996
https://www.w3.org/2000/01/rdf-schema#label MODY1
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