Diazoxide-sensitive diffuse hyperinsulinism

Summary

Diazoxide-sensitive diffuse hyperinsulinism (MONDO:0015624) is a disease (an umbrella term covering 8 Mondo subtypes). A subtype of congenital isolated hyperinsulinism — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 8 Mondo subtypes

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	diazoxide-sensitive diffuse hyperinsulinism
Mondo ID	MONDO:0015624
Orphanet	165985
UMLS	C5679570
MedGen	1842739
GARD	0020067
Is cancer (heuristic)	no

Also known as: hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form

Disease family

This is a subtype of congenital isolated hyperinsulinism. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › digestive system disorder › pancreas disorder › endocrine pancreas disorder › islet cell adenomatosis › congenital isolated hyperinsulinism › diazoxide-sensitive diffuse hyperinsulinism

Related subtypes (3): hyperinsulinemic hypoglycemia, familial, 2, hyperinsulinemic hypoglycemia, familial, 3, diazoxide-resistant hyperinsulinism

Subtypes (8): hyperinsulinism-hyperammonemia syndrome, hyperinsulinemic hypoglycemia, familial, 4, exercise-induced hyperinsulinism, hyperinsulinism due to HNF4A deficiency, hyperinsulinism due to UCP2 deficiency, autosomal dominant hyperinsulinism due to SUR1 deficiency, autosomal dominant hyperinsulinism due to Kir6.2 deficiency, hyperinsulinism due to HNF1A deficiency

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.