raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:2298

Insulin-resistance syndrome type B

Type
Disease
Group
Disorder
Inheritance
Not applicable
Age of onset
Adolescent, Adult, Childhood, Elderly
Status
active

A rare genetic disease that belongs to the group of extreme insulin-resistance syndromes and is due to autoantibodies directed against insulin receptor.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enInsulin-resistance syndrome type B
frSyndrome d'insulino-résistance type B
deInsulinresistenz-Syndrom Typ B
esSíndrome de resistencia a la insulina tipo B
itSindrome da insulino-resistenza, tipo B
nlInsulineresistentiesyndroom type B
ptSíndrome de resistência à insulina tipo B
plZespół oporności na insulinę typu B
csSyndrom inzulinové rezistence typ B
ukСиндром інсулінорезистентності, тип В
zh胰岛素抵抗综合征B型
trİnsülin direnci sendromu tip B

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10E34.8NTBTattributedvalidated
ICD-115A44NTBTindexvalidated
MONDO0016464Evalidated
UMLSC0342337Evalidated
GARD3009Evalidated

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

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

No children.

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

1 record
TypeClassValueAreaQualificationValidationSource
Point prevalenceUnknown—WorldwideClass onlyValidated[EXPERT]

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

6

HPO phenotypes

50 annotations · validated 2015-10-05
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0004359Abnormal circulating fatty-acid concentration
HP:0004924Abnormal oral glucose tolerance
HP:0000956Acanthosis nigricans
HP:0002960Autoimmunity
HP:0003565Elevated erythrocyte sedimentation rate
HP:0008283Fasting hyperinsulinemia
HP:0001952Glucose intolerance
HP:0003074Hyperglycemia
HP:0000842Hyperinsulinemia
HP:0012153Hypotriglyceridemia
HP:0000855Insulin resistance
HP:0011998Postprandial hyperglycemia
HP:0002725Systemic lupus erythematosus
HP:0001824Weight loss
Frequent (79-30%)
HP:0003119Abnormal circulating lipid concentration
HP:0004323Abnormality of body weight
HP:0004361Abnormality of circulating leptin level
HP:0003493Antinuclear antibody positivity
HP:0004325Decreased body weight
HP:0005416Decreased serum complement factor B
HP:0100879Enlarged ovaries
HP:0008675Enlarged polycystic ovaries
HP:0012378Fatigue
HP:0003076Glycosuria
HP:0001007Hirsutism
HP:0003073Hypoalbuminemia
HP:0030088Increased serum testosterone level
HP:0000831Insulin-resistant diabetes mellitus
HP:0001882Leukopenia
HP:0000123Nephritis
HP:0000147Polycystic ovaries
HP:0000093Proteinuria
HP:0005978Type II diabetes mellitus
Occasional (29-5%)
HP:0010286Abnormal salivary gland morphology
HP:0001596Alopecia
HP:0002613Biliary cirrhosis
HP:0001953Diabetic ketoacidosis
HP:0003162Fasting hypoglycemia
HP:0012189Hodgkin lymphoma
HP:0000825Hyperinsulinemic hypoglycemia
HP:0004324Increased body weight
HP:0003261Increased circulating IgA level
HP:0003237Increased circulating IgG level
HP:0001946Ketosis
HP:0002665Lymphoma
HP:0006775Multiple myeloma
HP:0002758Osteoarthritis
HP:0002090Pneumonia
HP:0000988Skin rash
HP:0001873Thrombocytopenia

Run the differential on the 12 obligate / very frequent terms

Annotation source: 10487687[PMID]_7010176[PMID]_176581[PMID]_7133100[PMID]_9245240[PMID]_23053690[PMID]_10487687[PMID]_18218307[PMID]_11889410[PMID]_25390580[PMID]_23346003[PMID]_2880067[PMID]_25864863[PMID]_18026162[PMID]_2026751[PMID]_21387198[PMID]

7

Sources for this card