Insulin autoimmune syndrome

Summary

Insulin autoimmune syndrome (MONDO:0018465) is a disease. A subtype of autoimmune disorder of endocrine system — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Europe) [Orphanet-validated]
• Phenotypes (HPO): 13

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		404	Worldwide	Validated
Point prevalence	<1 / 1 000 000	0.017	Europe	Validated

Signs & symptoms

Clinical features (HPO)

13 HPO clinical features (Orphanet curated; top 13 by frequency):

HPO ID	Term	Frequency
HP:0000825	Hyperinsulinemic hypoglycemia	Obligate (100%)
HP:0000831	Insulin-resistant diabetes mellitus	Very frequent (80-99%)
HP:0000855	Insulin resistance	Very frequent (80-99%)
HP:0002725	Systemic lupus erythematosus	Very frequent (80-99%)
HP:0010702	Increased circulating antibody level	Very frequent (80-99%)
HP:0030057	Autoimmune antibody positivity	Very frequent (80-99%)
HP:0000956	Acanthosis nigricans	Frequent (30-79%)
HP:0001824	Weight loss	Frequent (30-79%)
HP:0001958	Nonketotic hypoglycemia	Frequent (30-79%)
HP:0002960	Autoimmunity	Frequent (30-79%)
HP:0003162	Fasting hypoglycemia	Frequent (30-79%)
HP:0005059	Arthralgia/arthritis	Frequent (30-79%)
HP:0012051	Reactive hypoglycemia	Frequent (30-79%)

Identifiers

Disease identifiers

Field	Value
Canonical name	insulin autoimmune syndrome
Mondo ID	MONDO:0018465
Orphanet	411593
DOID	DOID:0040100
SNOMED CT	408539000
UMLS	C0854359
MedGen	678528
GARD	0010808
Is cancer (heuristic)	no

Also known as: Hirata disease · insulin autoimmune hypoglycemia

Disease family

This is a subtype of autoimmune disorder of endocrine system. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › endocrine system disorder › autoimmune disorder of endocrine system › insulin autoimmune syndrome

Related subtypes (12): type 1 diabetes mellitus, autoimmune thyroid disease, immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome, autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, autoimmune pancreatitis, autoimmune hepatitis, autoimmune polyendocrinopathy, autoimmune hypoparathyroidism, IgG4-related sclerosing cholangitis, lymphocytic hypophysitis, autoimmune oophoritis, autoimmune primary ovarian failure

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.