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Disease Profile
Sea-Blue histiocytosis
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.
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Age of onset
Adolescent
ICD-10
D76.3
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)
Histiocytosis, sea-blue; Sea-Blue histiocyte disease; Inherited Lipemic Splenomegaly
Categories
Congenital and Genetic Diseases; Metabolic disorders
Summary
Sea-blue histiocytosis, also known as
Sea-blue histiocytes can also be a secondary finding associated with a wide range of disorders, including myelodysplastic syndromes, lymphomas, chronic myelogenous leukemia, idiopathic thrombocytopenic purpura, Niemann-Pick disease, and Norum disease.[3][4][5] In these cases, treatment depends on the underlying disorder.
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 | ||
Blepharitis |
Inflammation of eyelids
|
0000498 |
Edema |
Fluid retention
Water retention
[ more ] |
0000969 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Mediastinal lymphadenopathy |
Swollen lymph nodes in center of chest
|
0100721 |
Petechiae | 0000967 | |
Sea-blue histiocytosis | 0001982 | |
Splenomegaly |
Increased spleen size
|
0001744 |
Subcutaneous nodule |
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ] |
0001482 |
Low platelet count
|
0001873 | |
30%-79% of people have these symptoms | ||
Pulmonary infiltrates |
Lung infiltrates
|
0002113 |
5%-29% of people have these symptoms | ||
Hyperpigmentation of the skin |
Patchy darkened skin
|
0000953 |
Hypopigmentation of the skin |
Patchy lightened skin
|
0001010 |
Retinopathy |
Noninflammatory retina disease
|
0000488 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the eye |
Abnormal eye
|
0000478 |
Absent axillary hair | 0002221 | |
0000007 | ||
Cirrhosis |
Scar tissue replaces healthy tissue in the liver
|
0001394 |
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 Providing General Support
-
Histiocytosis Association
332 North Broadway
Pitman, NJ 08071
Toll-free: 1-800-548-2758 (from US and Canada)
Telephone: +1-856-589-6606
Fax: +1-856-589-6614
E-mail: [email protected]
Website: https://www.histio.org/ -
Histiocytosis Association of Canada (HAC)
41 Milverton Close
Waterdown, ON
L8B 0A9
Canada
E-mail: [email protected]
Website: https://histiocytosis.ca/
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
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- 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 Sea-Blue histiocytosis. Click on the link to view a sample search on this topic.
References
- Greyshock, Nicole, et al.. APOE p.Leu167del-Related Lipid Disorders. GeneReviews. June 12, 2014; https://www.ncbi.nlm.nih.gov/books/NBK208534/.
- SEA-BLUE HISTIOCYTE DISEASE. Online Mendelian Inheritance in Man (OMIM). June, 2009; https://www.omim.org/entry/269600. Accessed 12/9/2016.
- Bakheet, Saad Eldeen, et al.. Secondary Sea-Blue Histiocytosis in a Patient with Transfusion Dependent HbE-Beta Thalassaemia and Osteosarcoma. Indian J Hematol Blood Transfusion. June, 2016; 32(Suppl 1):262-6. https://www.ncbi.nlm.nih.gov/pubmed/?term=27408409. Accessed 12/9/2016.
- Pongas, Georgios. Sea-blue–colored histiocytes associated with bone marrow granulomas. Blood. 2013; 122:475. https://www.bloodjournal.org/content/122/4/475?sso-checked=true. Accessed 12/9/2016.
- Sea-Blue histiocytosis. CheckOrphan. https://www.checkorphan.org/diseases/sea-blue-histiocytosis. Accessed 12/9/2016.