Disease Profile

Blau syndrome

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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of Onset

Infancy

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ICD-10

-

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.

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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Other Names (AKA)

Arthrocutaneouveal granulomatosis; ACUG; Granulomatosis, familial, Blau type;

Categories

Congenital and Genetic Diseases; Eye diseases; Immune System Diseases;

Summary

Blau syndrome is a rare condition characterized mainly by skin rash, arthritis and uveitis.[1] It has variable expressivity and usually affects preschool age children younger than four years of age. Characteristic findings include synovial effusions (fluid in the joints due to inflammation) and cysts, anterior uveitis (swelling and irritation of the uvea) and focal posterior synechiae (adhesion of the iris to the cornea). Permanent bending of the fingers and toes (camptodactyly) and other findings have also been reported. It is caused by mutations in the NOD2 gene and is inherited in an autosomal dominant manner. Blau syndrome and early-onset sarcoidosis have the same symptoms and genetic cause, but early-onset sarcoidosis is caused by de novo (new) mutations and occurs sporadically (in individuals with no history of the disorder in the family).[2]

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
Arthralgia
Joint pain
0002829
Erythema
0010783
Hyperpigmentation of the skin
Patchy darkened skin
0000953
Iridocyclitis
0001094
Joint swelling
0001386
Keratitis
Corneal inflammation
0000491
Limitation of joint mobility
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion

[ more ]

0001376
Papule
0200034
Polyarticular arthritis
0005764
Posterior uveitis
0012123
Skin rash
0000988
Synovitis
0100769
30%-79% of people have these symptoms
Camptodactyly of finger
Permanent flexion of the finger
0100490
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Dry skin
0000958
Erythema nodosum
0012219
Fever
0001945
Glaucoma
0000501
Photophobia
Extreme sensitivity of the eyes to light
Light hypersensitivity

[ more ]

0000613
5%-29% of people have these symptoms
Abnormal choroid morphology
0000610
Abnormal retinal vascular morphology
Abnormality of retina blood vessels
0008046
Abnormal salivary gland morphology
Abnormality of the salivary glands
0010286
Abnormality of the liver
Abnormal liver
Liver abnormality

[ more ]

0001392
Anemia
Low number of red blood cells or hemoglobin
0001903
Aortic aneurysm
Bulge in wall of large artery that carries blood away from heart
0004942
Clear cell renal cell carcinoma
0006770
Dyspnea
Trouble breathing
0002094
Facial palsy
Bell's palsy
0010628
Hypertension
0000822
Ichthyosis
0008064
Large vessel vasculitis
0005310
Lymphadenopathy
Swollen lymph nodes
0002716
Nephropathy
0000112
Pericarditis
Swelling or irritation of membrane around heart
0001701
Pulmonary arterial hypertension
Increased blood pressure in blood vessels of lungs
0002092
Retinopathy
Noninflammatory retina disease
0000488
Retrobulbar optic neuritis
0100654
Skin ulcer
Open skin sore
0200042
Splenomegaly
Increased spleen size
0001744
Stage 5 chronic kidney disease
0003774
Visual loss
Loss of vision
Vision loss

[ more ]

0000572
Xerostomia
Dry mouth
Dry mouth syndrome
Reduced salivation

[ more ]

0000217
1%-4% of people have these symptoms
Arthritis
Joint inflammation
0001369
Intermittent generalized erythematous papular rash
0007432
Iritis
Inflammation of iris
0001101
Uveitis
0000554
Percent of people who have these symptoms is not available through HPO
Abnormal cranial nerve morphology
0001291
Abnormality of the ear
0000598
Autosomal dominant inheritance
0000006
Band keratopathy
0000585
Cystoid macular edema
0011505
Eczema
0000964
Flexion contracture of toe
0005830
Nongranulomatous uveitis
0007813
Tendonitis
0025230

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Organizations Providing General Support

        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.

        Where to Start

        • The Paediatric Rheumatology International Trials Organisation (PRINTO) Website contains a factsheet about Blau syndrome. This Web site is a collaboration between PRINTO and the Paediatric Rheumatology European Society (PRES), funded by the European Union. PRINTO is a not for profit international public network made up of academic and/or clinical centers engaged in the research and clinical care of children with pediatric rheumatic diseases. Click this Blau syndrome link to read the factsheet.
        • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.

          General Information

          • The Paediatric Rheumatology International Trials Organisation (PRINTO) Website contains a factsheet about Blau syndrome. This Web site is a collaboration between PRINTO and the Paediatric Rheumatology European Society (PRES), funded by the European Union. PRINTO is a not for profit international public network made up of academic and/or clinical centers engaged in the research and clinical care of children with pediatric rheumatic diseases. Click this Blau syndrome link to read the factsheet.

            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.
            • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
            • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
            • PubMed is a searchable database of medical literature and lists journal articles that discuss Blau syndrome. Click on the link to view a sample search on this topic.

              References

              1. Kozo Yasui et al. Thalidomide dramatically improves the symptoms of early-onset Sarcoidosis/Blau syndrome: Its possible action and mechanism. Arthritis & Rheumatism. January 2010; 62(1):250-257. https://onlinelibrary.wiley.com/doi/10.1002/art.25035/full. Accessed 5/5/2011.
              2. Donald A Glass II, Jennifer Maender, Denise Metry. Two pediatric cases of Blau syndrome. Dermatology Online Journal. December 2009; 15(12):https://dermatology.cdlib.org/1512/articles/blau/glass.html. Accessed 5/5/2011.