ORPHA:79298

Diazoxide-resistant focal hyperinsulinism

Synonyms: Hyperinsulinemic hypoglycemia, diazoxide-resistant focal form

Type: Clinical group
Group: Group of disorders
Age of onset: All ages
Status: active

A form of congenital diazoxide-resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Diazoxide-resistant focal hyperinsulinism	Hyperinsulinemic hypoglycemia, diazoxide-resistant focal form
fr	Hyperinsulinisme focal résistant au diazoxide	Hypoglycémie hyperinsulinémique, forme focale résistante au diazoxide
de	Hyperinsulinismus, fokaler, Diazoxid-resistanter	Hyperinsulinämische Hypoglykämie, Diazoxid-resistente fokale Form
es	Hiperinsulinismo focal resistente al diazóxido	Hipoglucemia hiperinsulinémica, forma focal resistente al diazóxido
it	Iperinsulinismo focale resistente al diazoxide	Ipoglicemia iperinsulinemica, forma focale resistente al diazoxide
nl	Diazoxideresistent focaal hyperinsulinisme	Hyperinsulinemische hypoglycemie, diazoxideresistente focale vorm
pt	Hiperinsulinismo focal resistente ao diazóxido
pl	Hiperinsulinizm ogniskowy oporny na diazoksyd	Hipoglikemia hiperinsulinemiczna, forma ogniskowa oporna na diazoksyd
cs	Diazoxid-rezistentní fokální hyperinzulinismus	Hyperinzulinemická hypoglykémie, diazoxid-rezistentní fokální forma
uk	Діазоксид-резистентний фокальний гіперінсулінізм	Гіперінсулінемічна гіпоглікемія, діазоксирезистентна фокальна форма
zh	二氮嗪抵抗型局部高胰岛素血症	高胰岛素血症性低血糖，二氮嗪抵抗型局部型
tr	Diazoksite dirençli fokal hiperinsülinizm	Hiperinsülinemik hipoglisemi, diazoksite dirençli fokal form

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	Validation
MONDO	0019265	E	validated
MONDO	19265	E	validated
UMLS	C5680204	E	validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:97978Rare endocrine disease

Parents in the classifications (1):

ORPHA:276585Diazoxide-resistant hyperinsulinism
rare inborn errors of metabolism; rare genetic diseases; rare endocrine diseases

Children (2):

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Europe	Class only	Not yet validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/79298
This record as JSON: /data/d/79298.json