Hyperinsulinism due to INSR deficiency
- Synonyms
- Hyperinsulinemic hypoglycemia familial 5; Hyperinsulinism due to glutamodehydrogenase deficiency
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (27 available)
Clinical features
Help- Abnormality of the endocrine system
- Elevated circulating insulin:C-peptide ratio
Elevated circulating insulin:C-peptide ratio
- MedGen UID: 1815107
- Concept ID: C5706201
- Finding: Finding
Abnormality of the endocrine system
- Fasting hyperinsulinemia
Fasting hyperinsulinemia
- MedGen UID: 351259
- Concept ID: C1864954
- Finding: Finding
Abnormality of the endocrine system
- Hyperinsulinemic hypoglycemia
Hyperinsulinemic hypoglycemia
- MedGen UID: 351247
- Concept ID: C1864903
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Elevated circulating insulin:C-peptide ratio
- Abnormality of the nervous system
- Hypoglycemic coma
Hypoglycemic coma
- MedGen UID: 5710
- Concept ID: C0020617
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Hypoglycemic seizures
Hypoglycemic seizures
- MedGen UID: 164079
- Concept ID: C0877056
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Hypoglycemic coma
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