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Start free with EleplanCongenital hyperinsulinism due to HNF4A deficiency
ORPHA:263455Disease
Also called Hyperinsulinemic hypoglycemia due to HNF4A deficiency
What it is
A form of diazoxide-sensitive diffuse congenital hyperinsulinism due to HNF4A deficiency and, characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY).
Key facts
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal dominant
- Classified as
- Disease
Signs and symptoms
Very common80–99%
21- Abnormal circulating fatty-acid concentration
- Agitation
- Coma
- Drowsiness
- Elevated circulating hepatic transaminase concentration
- Fasting hypoglycemia
- Fatigue
- Hepatomegaly
- Hyperhidrosis
- Hyperinsulinemia
- Hyperinsulinemic hypoglycemia
- Hypoketotic hypoglycemia
- Increased body weight
- Large for gestational age
- Lethargy
- Neonatal hypoglycemia
- Neonatal hypotonia
- Pallor
- Pancreatic islet-cell hyperplasia
- Tachycardia
- Tremor
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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