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Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
disorderSNOMED 783768006CUI C5191078
Overview
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Hyperinsulinemia hypoglycemia
Always present (100%)HP:0000825
Abnormal response to glucagon stimulation test
Very frequent (80-99%)HP:0031080
Brain and/or spinal cord issue
Very frequent (80-99%)HP:0000707
Hypoglycemic episodes
Very frequent (80-99%)HP:0001988
Increased C-peptide level
Very frequent (80-99%)HP:0030796
Decreased circulating free fatty acid level
Frequent (30-79%)HP:0040299
Diffuse pancreatic islet hyperplasia
Frequent (30-79%)HP:0031224
Elevated circulating growth hormone concentration
Frequent (30-79%)HP:0000845
Fetal macrosomia
Frequent (30-79%)HP:0001520
Focal pancreatic islet hyperplasia
Frequent (30-79%)HP:0031223
Apnea
Occasional (5-29%)HP:0002104
Epilepsy
Occasional (5-29%)HP:0001250
Feeding difficulties
Occasional (5-29%)HP:0011968
Hypercortisolism
Occasional (5-29%)HP:0003118
Hypotonia, early
Occasional (5-29%)HP:0008947
Multiple pancreatic beta-cell adenomas
Occasional (5-29%)HP:0008194
Neonatal hypoglycemia
Occasional (5-29%)HP:0001998
Neurodevelopmental delay
Occasional (5-29%)HP:0012758
Poor school performance
Occasional (5-29%)HP:0001249
Quick Facts
- SNOMED CT
- 783768006
- UMLS CUI
- C5191078
- Fully Specified Name
- Autosomal recessive hyperinsulinism due to Kir6.2 deficiency (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 19
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.