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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.
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
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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.
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.
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.
The syndrome is associated with the presence of serum auto-antibodies against the insulin receptor.
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 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 | |
|
Darkened and thickened skin
|
0000956 | |
| Elevated |
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 |
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 |
Insulin resistant diabetes
Insulin-resistant diabetes
[ more ] |
0000831 |
| Leukopenia |
Decreased blood leukocyte number
Low white blood cell count
[ more ] |
0001882 |
| Nephritis |
Kidney inflammation
|
0000123 |
|
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 |
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 | |
|
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.