hypoinsulinemic hypoglycemia and body hemihypertrophy
MONDO:0009416Mondo
Findings
No curated finding names hypoinsulinemic hypoglycemia and body hemihypertrophy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
19 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.
- HemihypertrophyHPOHP:0001528
- 1 of 3 reported patients
- Obligate (100% of cases)
- HypoinsulinemiaHPOHP:0040216
- 3 of 3 reported patients
- Abnormal circulating insulin concentrationHPOHP:0040214
- Very frequent (80% to 99% of cases)
- Enlarged tonsilsHPOHP:0030812
- Very frequent (80% to 99% of cases)
- GynecomastiaHPOHP:0000771
- 1 of 2 reported patients · Male
- Very frequent (80% to 99% of cases)
- Hypoglycemic comaHPOHP:0001325
- Very frequent (80% to 99% of cases)
- Hypoglycemic seizuresHPOHP:0002173
- Very frequent (80% to 99% of cases)
- Hypoketotic hypoglycemiaHPOHP:0001985
- Very frequent (80% to 99% of cases)
- Increased hepatic glycogen contentHPOHP:0006568
- Very frequent (80% to 99% of cases)
- Large for gestational ageHPOHP:0001520
- 1 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Neonatal hypoglycemiaHPOHP:0001998
- 1 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Nonketotic hypoglycemiaHPOHP:0001958
- Very frequent (80% to 99% of cases)
Reported absent (2)
- AutoimmunityHPOHP:0002960
- Increased circulating free fatty acid levelHPOHP:0030781
Show the remaining 7
- Truncal obesityHPOHP:0001956
- Very frequent (80% to 99% of cases)
- Bilateral tonic-clonic seizureHPOHP:0002069
- 2 of 3 reported patients
- Fasting hypoglycemiaHPOHP:0003162
- 2 of 3 reported patients
- HypoglycemiaHPOHP:0001943
- 2 of 3 reported patients
- Facial asymmetryHPOHP:0000324
- 1 of 3 reported patients
- ObesityHPOHP:0001513
- 1 of 3 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.
- AKT2HGNC:392
- Definitive · G2P · Autosomal dominant · 2021
- Definitive · ClinGen · Autosomal dominant · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021