Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
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Preferred Name

Congenital isolated hyperinsulinism
Synonyms

Persistent hyperinsulinemic hypoglycemia of infancy

PHHI
Definitions

A rare endocrine disease characterized by an excessive or uncontrolled insulin secretion and recurrent episodes of hypoglycemia that can result in neurological sequelae if left untreated. There are two forms according to the response to first line treatment: diazoxide-sensitive and diazoxide-resistant hyperinsulinism; and three histopathological forms: focal, diffuse and atypical forms. Focal forms are only observed in early-onset cases of diazoxide unresponsive patients.
ID

http://www.orpha.net/ORDO/Orphanet_657
alternative_term

Persistent hyperinsulinemic hypoglycemia of infancy

PHHI
definition

A rare endocrine disease characterized by an excessive or uncontrolled insulin secretion and recurrent episodes of hypoglycemia that can result in neurological sequelae if left untreated. There are two forms according to the response to first line treatment: diazoxide-sensitive and diazoxide-resistant hyperinsulinism; and three histopathological forms: focal, diffuse and atypical forms. Focal forms are only observed in early-onset cases of diazoxide unresponsive patients.
definition_citation

Orphanet
expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=657
has_age_of_onset

Childhood

Infancy

Neonatal
has_inheritance

Autosomal recessive

Autosomal dominant
hasDbXref

MeSH:D044903

UMLS:C3888018
label

Congenital isolated hyperinsulinism
notation

Clinical group

ORPHA:657
prefixIRI

ORDO:Orphanet_657
prefLabel

Congenital isolated hyperinsulinism
present_in

Japan AND has_birth_prevalence_average_value : 5.25 AND has_birth_prevalence_range : 1-9 / 100 000

Czech Republic AND has_birth_prevalence_average_value : 2.24 AND has_birth_prevalence_range : 1-9 / 100 000

United Kingdom AND has_birth_prevalence_average_value : 3.52 AND has_birth_prevalence_range : 1-9 / 100 000

Netherlands AND has_birth_prevalence_average_value : 2.0 AND has_birth_prevalence_range : 1-9 / 100 000

Saudi Arabia AND has_birth_prevalence_average_value : 40.0 AND has_birth_prevalence_range : 1-5 / 10 000

Worldwide AND has_birth_prevalence_average_value : 3.67 AND has_birth_prevalence_range : 1-9 / 100 000

China AND has_point_prevalence_average_value : 23.2 AND has_point_prevalence_range : 1-5 / 10 000

Worldwide AND has_point_prevalence_range : Unknown
subClassOf

http://www.orpha.net/ORDO/Orphanet_91088

http://www.orpha.net/ORDO/Orphanet_276525

http://www.orpha.net/ORDO/Orphanet_557492
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