Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia

disease
On this page

Also known as NI-PHH

Summary

Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia (MONDO:0017189) is a disease. A subtype of familial hyperinsulinism — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

  • Prevalence: Unknown (Worldwide)
  • Phenotypes (HPO): 21

Clinical features

Signs & symptoms

Clinical features (HPO)

21 HPO clinical features (Orphanet curated; top 21 by frequency):

HPO IDTermFrequency
HP:0000825Hyperinsulinemic hypoglycemiaVery frequent (80-99%)
HP:0000975HyperhidrosisVery frequent (80-99%)
HP:0000980PallorVery frequent (80-99%)
HP:0001254LethargyVery frequent (80-99%)
HP:0001259ComaVery frequent (80-99%)
HP:0001337TremorVery frequent (80-99%)
HP:0001649TachycardiaVery frequent (80-99%)
HP:0001985Hypoketotic hypoglycemiaVery frequent (80-99%)
HP:0002344Progressive neurologic deteriorationVery frequent (80-99%)
HP:0003162Fasting hypoglycemiaVery frequent (80-99%)
HP:0003324Generalized muscle weaknessVery frequent (80-99%)
HP:0004324Increased body weightVery frequent (80-99%)
HP:0004510Pancreatic islet-cell hyperplasiaVery frequent (80-99%)
HP:0012378FatigueVery frequent (80-99%)
HP:0000842HyperinsulinemiaFrequent (30-79%)
HP:0012051Reactive hypoglycemiaFrequent (30-79%)
HP:0000713AgitationOccasional (5-29%)
HP:0001249Intellectual disabilityOccasional (5-29%)
HP:0001250SeizureOccasional (5-29%)
HP:0002315HeadacheOccasional (5-29%)
HP:0002329DrowsinessOccasional (5-29%)

Identifiers

Disease identifiers

FieldValue
Canonical nameadult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia
Mondo IDMONDO:0017189
Orphanet276608
SNOMED CT717044000
UMLSC4274082
MedGen907576
GARD0021056
Is cancer (heuristic)no

Also known as: NI-PHH

Disease family

This is a subtype of familial 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 disorderpancreas disorderendocrine pancreas disorderhyperinsulinismfamilial hyperinsulinismadult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia

Related subtypes (2): hyperinsulinism due to INSR deficiency, congenital isolated hyperinsulinism

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.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.