Rare Immunology News

Disease Profile

Insulin-resistance type B

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Adult

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ICD-10

E13

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Categories

Congenital and Genetic Diseases; Endocrine Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
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Orpha Number: 2298

Definition
Type B insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome, and type A insulin resistance syndrome; see these terms) and occurs in the context of immune dysfunction.

Epidemiology
It is a rare disorder that affects middle-aged adults, predominantly females.

Clinical description
It may occur in the context of a well-characterized autoimmune disease (systemic lupus erythematosus; see this term), or suggest an immune disease (such as an elevated sedimentation rate, proteinuria, high levels of antinuclear antibodies or decreased levels of certain complement factors). The onset of the disease is usually marked with a rapidly progressive nonketotic and severely insulin-resistant diabetes, along with acanthosis nigricans (the typical skin lesion associated with insulin resistance) and hirsutism. Paradoxal hypoglycemia is sometimes observed and may be extremely severe.

Etiology
The syndrome is associated with the presence of serum auto-antibodies against the insulin receptor.

Diagnostic methods
The diagnosis is based on the clinical picture, results of laboratory tests, and on detection of anti-insulin receptor auto-antibodies in the serum.

Management and treatment
Treatment of the underlying autoimmune disease consists of non-specific immunosuppressors associated with very high doses of insulin to try to control the hyperglycemia.

Prognosis
Prognosis depends on the underlying autoimmune disease, but it is unfavorable in cases with hypoglycemia (leading to death in 50% of cases).

Visit the Orphanet disease page for more resources.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal circulating fatty-acid concentration
0004359
Abnormal oral glucose tolerance
0004924
Acanthosis nigricans
Darkened and thickened skin
0000956
Elevated erythrocyte sedimentation rate
High ESR
0003565
Fasting hyperinsulinemia
High blood insulin levels while fasting
0008283
Hypotriglyceridemia
Low blood triglyceride levels
0012153
Postprandial hyperglycemia
0011998
Systemic lupus erythematosus
0002725
Weight loss
0001824
30%-79% of people have these symptoms
Abnormality of circulating leptin level
0004361
Antinuclear antibody positivity
0003493
Decreased serum complement factor B
0005416
Enlarged polycystic ovaries
Enlarged ovaries with cysts
0008675
Fatigue
Tired
Tiredness

[ more ]

0012378
Glycosuria
Glucose in urine
0003076
Hirsutism
Excessive hairiness
0001007
Hypoalbuminemia
Low blood albumin
0003073
Increased serum testosterone level
0030088
Insulin-resistant diabetes mellitus
Insulin resistant diabetes
Insulin-resistant diabetes

[ more ]

0000831
Leukopenia
Decreased blood leukocyte number
Low white blood cell count

[ more ]

0001882
Nephritis
Kidney inflammation
0000123
Proteinuria
High urine protein levels
Protein in urine

[ more ]

0000093
Type II diabetes mellitus
Noninsulin-dependent diabetes
Type 2 diabetes
Type II diabetes

[ more ]

0005978
5%-29% of people have these symptoms
Abnormal salivary gland morphology
Abnormality of the salivary glands
0010286
Alopecia
Hair loss
0001596
Biliary cirrhosis
0002613
Diabetic ketoacidosis
0001953
Fasting hypoglycemia
Low blood sugar when fasting
0003162
Hodgkin lymphoma
0012189
Hyperinsulinemic hypoglycemia
0000825
Increased body weight
0004324
Increased circulating IgA level
0003261
Increased circulating IgG level
0003237
Multiple myeloma
0006775
Osteoarthritis
Degenerative joint disease
0002758
Pneumonia
0002090
Skin rash
0000988
Thrombocytopenia
Low platelet count
0001873

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.