Hyperinsulinism-hyperammonemia syndrome
- Synonyms
- GLUD1-Related Hyperinsulinism; HA/HI syndrome; Hyperinsulinemic hypoglycemia familial 6
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (65 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of metabolism/homeostasis
- Asymptomatic hyperammonemia
Asymptomatic hyperammonemia
- MedGen UID: 867194
- Concept ID: C4021552
- Finding: Finding
Abnormality of metabolism/homeostasis
- Asymptomatic hyperammonemia
- Abnormality of the digestive system
- Abnormality of the pancreatic islet cells
Abnormality of the pancreatic islet cells
- MedGen UID: 870594
- Concept ID: C4025043
- Finding: Anatomical Abnormality
Abnormality of the digestive system
- Abnormality of the pancreatic islet cells
- Abnormality of the endocrine system
- Hyperinsulinemic hypoglycemia
Hyperinsulinemic hypoglycemia
- MedGen UID: 351247
- Concept ID: C1864903
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Hyperinsulinemic hypoglycemia
- 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
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Hypoglycemic coma
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Failure to thrive
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