HNF4A across dismech

HNF4A (hepatocyte nuclear factor 4 alpha) is named by 5 disorder entries.

Typed records

Three entries type HNF4A as causative, Congenital Isolated Hyperinsulinism; Diabetes mellitus; and Hyperinsulinemic Hypoglycemia, all with germline variants (Congenital Isolated Hyperinsulinism; Diabetes mellitus; and Hyperinsulinemic Hypoglycemia). The gene sits on HNF4A-Dependent Fetal and Neonatal Beta-Cell Dysregulation in Congenital Isolated Hyperinsulinism and on Transcription Factor Dysregulation of the Beta-Cell Secretory Program in Hyperinsulinemic Hypoglycemia, where it shares the node with HNF1A. In Diabetes mellitus the record is scoped to the monogenic diabetes subtype, for which ClinGen rates the gene definitive; ClinGen classifies HNF4A for 1 disease.

Untyped records

Two entries carry HNF4A with no relationship type: Fanconi Renotubular Syndrome; and Ulcerative Colitis. Fanconi Renotubular Syndrome places HNF4A on Proximal tubular transport and energy-metabolism defect.

Normal function versus the KB nodes

The KB annotates HNF4A nodes with establishment of endothelial intestinal barrier; insulin secretion; oxidative phosphorylation; regulation of insulin secretion; and renal absorption, all downstream physiological processes. HNF4A is a nuclear-receptor transcription factor; both hyperinsulinism nodes bind DNA-binding transcription activator activity as decreased. The ai-gene-review layer pinned in the ingest lists 0 core-function terms for HNF4A, so the layers share 0 GO terms. An upstream review centred on nuclear receptor (DNA-binding transcription factor) activity is being completed.