Hypoinsulinemic hypoglycemia and body hemihypertrophy(HIHGHH)

MedGen UID:: 480014
•Concept ID:: C3278384
•: Disease or Syndrome

Synonyms:	Hypoglycemia, neonatal, simulating foetopathia diabetica; Hypoinsulinemic hypoglycemia and hemihypertrophy
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	AKT2 (19q13.2)

Monarch Initiative:	MONDO:0009416
OMIM®:	240900
Orphanet:	ORPHA293964

Definition

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]

Clinical features

From HPO

Obesity

MedGen UID:: 18127
•Concept ID:: C0028754
•: Disease or Syndrome

Accumulation of substantial excess body fat.

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Hemihypertrophy

MedGen UID:: 90701
•Concept ID:: C0332890
•: Congenital Abnormality

Overgrowth of only one side of the body.

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Large for gestational age

MedGen UID:: 341215
•Concept ID:: C1848395
•: Finding

The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age.

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Truncal obesity

MedGen UID:: 1637490
•Concept ID:: C4551560
•: Finding

Obesity located preferentially in the trunk of the body as opposed to the extremities.

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Bilateral tonic-clonic seizure

MedGen UID:: 141670
•Concept ID:: C0494475
•: Sign or Symptom

A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.

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Hypoglycemia