ORPHA:97279

Insulinoma

Type: Disease
Group: Disorder
Inheritance: Not applicable
Age of onset: All ages
Status: active

A form of functioning pancreatic neuroendocrine tumor characterized most commonly by a solitary, small pancreatic lesion that causes hyperinsulinemic hypoglycemia.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Insulinoma
fr	Insulinome
de	Insulinom
es	Insulinoma
it	Insulinoma
nl	Insulinoom
pt	Insulinoma
pl	Insulinoma
cs	Inzulinom
uk	Інсулінома
zh	胰岛素瘤
tr	İnsülinoma

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	C25.4	BTNT	index	validated
ICD-10	D13.7	BTNT	index	validated
ICD-10	D37.7	BTNT	index	validated
ICD-11	2C10.1	NTBT	index	validated
MONDO	0005048	E		validated
MONDO	5048	E		validated
MeSH	D007340	E		validated
UMLS	C0021670	E		validated
GARD	3010	E		validated
MedDRA	10022498	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:506060Functioning neuroendocrine tumor of pancreas
rare gastroenterological diseases; rare endocrine diseases; rare neoplastic diseases

No children.

Genes

2 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
YY1	Disease-causing somatic mutation(s) in	Assessed	HGNC:12856	ENSG00000100811	600013	14q32.2	YY1 transcription factor	24326773[PMID]
MEN1	Major susceptibility factor in	Assessed	HGNC:7010	ENSG00000133895	613733	11q13.1	menin 1	26307114[PMID]

Prevalence and incidence

4 records

Type	Class	Value	Area	Qualification	Validation	Source
Annual incidence	1-9 / 1 000 000	0.12 / 100 000	Ireland	Value and class	Validated	2575263[PMID]
Annual incidence	1-9 / 1 000 000	0.25 / 100 000	Worldwide	Value and class	Validated	23430217[PMID]
Point prevalence	1-9 / 1 000 000	0.56 / 100 000	Japan	Value and class	Validated	24499825[PMID]
Point prevalence	Unknown	—	Europe	Class only	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

34 annotations · validated 2016-01-25

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0006476	Abnormality of the pancreatic islet cells
HP:0008283	Fasting hyperinsulinemia
HP:0000975	Hyperhidrosis
HP:0000842	Hyperinsulinemia
HP:0000825	Hyperinsulinemic hypoglycemia
HP:0001958	Nonketotic hypoglycemia
HP:0001962	Palpitations
HP:0001988	Recurrent hypoglycemia
HP:0001250	Seizure
HP:0010534	Transient global amnesia
HP:0001337	Tremor
Frequent (79-30%)
HP:0000708	Atypical behavior
HP:0007159	Fluctuations in consciousness
HP:0003324	Generalized muscle weakness
HP:0004324	Increased body weight
HP:0006767	Pituitary prolactin cell adenoma
HP:0002591	Polyphagia
HP:0008200	Primary hyperparathyroidism
HP:0012051	Reactive hypoglycemia
HP:0004372	Reduced consciousness
HP:0002044	Zollinger-Ellison syndrome
Occasional (29-5%)
HP:0002494	Abnormal rapid eye movement sleep
HP:0011446	Abnormality of higher mental function
HP:0010832	Abnormality of pain sensation
HP:0000504	Abnormality of vision
HP:0000739	Anxiety
HP:0001259	Coma
HP:0012378	Fatigue
HP:0000364	Hearing abnormality
HP:0100785	Insomnia
HP:0001254	Lethargy
HP:0100631	Neoplasm of the adrenal gland
HP:0100634	Neuroendocrine neoplasm
HP:0003401	Paresthesia

Run the differential on the 11 obligate / very frequent terms

Annotation source: 1677058[PMID]_10190379[PMID]_25594862[PMID]_26107678[PMID]_19141587[PMID]_23094726[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/97279
This record as JSON: /data/d/97279.json