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Disease Profile
Blau syndrome
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
Age of onset
Infancy
ICD-10
-
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
Other names (AKA)
Arthrocutaneouveal granulomatosis; ACUG; Granulomatosis, familial, Blau type;
Categories
Congenital and Genetic Diseases; Eye diseases; Immune System Diseases;
Summary
Blau
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 |
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 |
|
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
| Dry skin | 0000958 | |
| Erythema nodosum | 0012219 | |
| Fever | 0001945 | |
| 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 |
|
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 |
0006770 | |
| Dyspnea |
Trouble breathing
|
0002094 |
| Facial palsy |
Bell's palsy
|
0010628 |
| 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 |
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 | |
| 0000006 | ||
| Band keratopathy | 0000585 | |
| Cystoid macular edema | 0011505 | |
| Eczema | 0000964 | |
| Flexion |
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.
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
|
Conditions with similar signs and symptoms from Orphanet
|
|---|
|
Differential diagnoses include polyarthritis and systemic juvenile idiopathic arthritis (JIA; see this term), granulomatous inflammation associated with primary immunodeficiencies, and systemic granulomatous vasculitis. In patients with granulomatous inflammation, chronic infections especially with mycobacteria and fungi must be excluded.
Visit the Orphanet disease page for more information.
|
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
-
Arthritis Foundation
1355 Peachtree St. NE
6th Floor
Atlanta, GA 30309
Toll-free: 1-844-571-HELP (4357)
Telephone: +1-404-872-7100
Website: https://www.arthritis.org -
FMF & AID Global Association
Schüracherstrasse 25a
8306 Brüttisellen
Switzerland
Telephone: +41 76 415 4010
E-mail: info@fmfandaid.org
Website: https://www.fmfandaid.org/
Organizations Providing General Support
-
American Autoimmune Related Diseases Association (AARDA)
19176 Hall Road, Suite 130
Clinton Township, MI 48038
Toll-free: 800-598-4668
Telephone: 586-776-3900
Fax: 586-776-3903
E-mail: aarda@aarda.org
Website: https://www.aarda.org/ -
Primary Immune Deficiency UK (PID UK)
PO Box 6970
Basingstoke, RG24 4XL United Kingdom
Toll-free: 0800 987 8986
E-mail: hello@piduk.org
Website: https://www.piduk.org/
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
- 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.
- 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.