ORPHA:165988

Diazoxide-resistant diffuse hyperinsulinism

Synonyms: Hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form

Type: Clinical group
Group: Group of disorders
Status: active

Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of 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 diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Diazoxide-resistant diffuse hyperinsulinism	Hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form
fr	Hyperinsulinisme diffus résistant au diazoxide	Hypoglycémie hyperinsulinémique, forme diffuse résistante au diazoxide
de	Hyperinsulinismus, diffuser, Diazoxid-resistenter	Hyperinsulinämische Hypoglykämie, Diazoxid-resistente diffuse Form
es	Hiperinsulinismo difuso resistente al diazóxido	Hipoglucemia hiperinsulinémica, forma difusa resistente al diazóxido
it	Iperinsulinismo diffuso resistente al diazossido	Ipoglicemia iperinsulinemica, forma diffusa resistente al diazossido
nl	Diazoxideresistent diffuus hyperinsulinisme	Hyperinsulinemische hypoglycemie, diazoxideresistente diffuse vorm
pt	Hiperinsulinismo difuso resistente ao diazóxido
pl	Rozlany hiperinsulinizm oporny na diazoksyd	Hipoglikemia hiperinsulinemiczna, forma rozlana oporna na diazoksyd
cs	Difuzní hyperinzulinismus rezistentní na diazoxid	Hyperinzulinemická hypoglykemie, difuzní forma rezistentní na diazoxid
uk	Дифузний гіперінсулінізм, резистентний до діазоксиду	Гіперінсулінемічна гіпоглікемія, діазоксирезистентна дифузна форма
zh	二氮嗪抵抗型弥漫性高胰岛素血症	二氮嗪抵抗型弥漫性高胰岛素低血糖症
tr	Diazoksite dirençli yaygın hiperinsülinizm	Hiperinsülinemik hipoglisemi, diazoksit-dirençli yaygın form

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	Validation
MONDO	0015625	E	validated
MONDO	15625	E	validated
UMLS	C5679569	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

0 records

No prevalence record in this release.

HPO phenotypes

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

Sources for this card

Orphanet page: orpha.net/en/disease/detail/165988
This record as JSON: /data/d/165988.json