hyperinsulinemic hypoglycemia, familial, 8
MONDO:0859362Mondo
Findings
No curated finding names hyperinsulinemic hypoglycemia, familial, 8 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
16 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Atrial septal defectHPOHP:0001631
- 1 of 1 reported patient
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 1 reported patient
- Chronic constipationHPOHP:0012450
- 1 of 1 reported patient
- Elevated circulating thyroid-stimulating hormone concentrationHPOHP:0002925
- 1 of 1 reported patient
- Expressive language delayHPOHP:0002474
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Growth delayHPOHP:0001510
- 1 of 1 reported patient
- HyperammonemiaHPOHP:0001987
- 3 of 3 reported patients
- HypercholesterolemiaHPOHP:0003124
- 1 of 1 reported patient
- HyperinsulinemiaHPOHP:0000842
- 1 of 1 reported patient
- HypoglycemiaHPOHP:0001943
- 3 of 3 reported patients
- Hypoglycemic seizuresHPOHP:0002173
- 3 of 3 reported patients
Show the remaining 4
- HypothyroidismHPOHP:0000821
- 1 of 1 reported patient
- Mild intellectual disabilityHPOHP:0001256
- 1 of 1 reported patient
- Elevated circulating C-peptide concentrationHPOHP:0030796
- 1 of 2 reported patients
- Short statureHPOHP:0004322
- 1 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC25A36HGNC:25554
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2023
Where it sits
- A kind of