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GTR Home > Conditions/Phenotypes > Hypoinsulinemic hypoglycemia and body hemihypertrophy

Hypoinsulinemic hypoglycemia and body hemihypertrophy

Synonyms
Hypoglycemia, neonatal, simulating foetopathia diabetica; Hypoinsulinemic hypoglycemia and hemihypertrophy
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Hypoinsulinemic hypoglycemia and body hemihypertrophy is a rare, genetic, endocrine disease characterized by neonatal macrosomia, asymmetrical overgrowth (typically manifesting as left-sided hemihypertrophy) and recurrent, severe hypoinsulinemic (or hypoketotic hypo-fatty-acidemic) hypoglycemia in infancy, which results in episodes of reduced consciousness and seizures. [from ORDO]

Available tests

31 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (31 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HIHGHH, PKBB, PKBBETA, PRKBB, RAC-BETA, AKT2
    Summary: AKT serine/threonine kinase 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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