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Disease Profile
Schimke immunoosseous dysplasia
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
Infancy
ICD-10
Q77.7
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)
Spondyloepiphyseal dysplasia nephrotic syndrome; Schimke syndrome; Immunoosseous dysplasia, Schimke type;
Categories
Congenital and Genetic Diseases; Eye diseases; Immune System Diseases;
Summary
Schimke immunoosseous dysplasia (SIOD) is a condition that results in
Symptoms
Other signs and symptoms may include:[2]
- Reduced thyroid function
- Protruding abdomen
- Patches of increased skin color (hyperpigmented macules)
- Progressive atherosclerosis beginning in early childhood
- Transient ischemic attacks or stroke
- Severe, migraine-like headaches
- Lung complications including pulmonary emboli, pulmonary hypertension, and lung disease
See GeneReviews for a detailed list of the symptoms of SIOD.
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 T cell morphology | 0002843 | |
Abnormality of epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 |
Low number of red blood cells or hemoglobin
|
0001903 | |
Bulbous nose | 0000414 | |
Cellular |
0005374 | |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
Disproportionate short-trunk short stature |
Disproportionate short-trunked dwarfism
Disproportionate short-trunked short stature
Short-trunked dwarfism
[ more ] |
0003521 |
Glomerulopathy | 0100820 | |
Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ] |
0002827 |
Hyperlordosis |
Prominent swayback
|
0003307 |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Lymphopenia |
Decreased blood lymphocyte number
Low lymphocyte number
[ more ] |
0001888 |
Melanocytic nevus |
Beauty mark
|
0000995 |
Microdontia |
Decreased width of tooth
|
0000691 |
Nephrotic |
0000100 | |
Ovoid vertebral bodies | 0003300 | |
Platyspondyly |
Flattened vertebrae
|
0000926 |
High urine protein levels
Protein in urine
[ more ] |
0000093 | |
Short neck |
Decreased length of neck
|
0000470 |
Low platelet count
|
0001873 | |
30%-79% of people have these symptoms | ||
Multiple cafe-au-lait spots | 0007565 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal immunoglobulin level | 0010701 | |
Arteriosclerosis | 0002634 | |
Astigmatism |
Abnormal curving of the cornea or lens of the eye
|
0000483 |
0000007 | ||
Coarse hair |
Coarse hair texture
|
0002208 |
Fine hair |
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ] |
0002213 |
Focal segmental glomerulosclerosis | 0000097 | |
High pitched voice | 0001620 | |
Hypermelanotic macule |
Hyperpigmented spots
|
0001034 |
0000822 | ||
Hypoplasia of the capital femoral epiphysis |
Small innermost thighbone end part
Underdevelopment of the innermost thighbone end part
[ more ] |
0003090 |
Increased thyroid-stimulating |
0002925 | |
Lateral displacement of the femoral head | 0006453 | |
Lumbar hyperlordosis |
Excessive inward curvature of lower spine
|
0002938 |
Motor delay | 0001270 | |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
Neutropenia |
Low blood neutrophil count
Low neutrophil count
[ more ] |
0001875 |
Opacification of the corneal stroma | 0007759 | |
Osteopenia | 0000938 | |
Protuberant abdomen |
Belly sticks out
Extended belly
[ more ] |
0001538 |
Recurrent infections |
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection
[ more ] |
0002719 |
Renal insufficiency |
Renal failure
Renal failure in adulthood
[ more ] |
0000083 |
Shallow acetabular fossae | 0003182 | |
Spondyloepiphyseal dysplasia | 0002655 | |
Thoracic kyphosis | 0002942 | |
Transient ischemic attack |
Mini stroke
|
0002326 |
Waddling gait |
'Waddling' gait
Waddling walk
[ more ] |
0002515 |
Diagnosis
Short stature - Spondyloepiphyseal dysplasia
- Progressive
kidney disease - T
cell deficiency - Characteristic facial features
- Patches of increased skin color (hyperpigmented macules)
The diagnosis can be established after a clinical examination.
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.
Treatment
Examples of treatments that may be needed for SIOD include:[1]
- Kidney
dialysis or transplant - Hip replacement
- Treatment of neutropenia with granulocyte
colony-stimulating factor or granulocyte-macrophage colony-stimulating factor Bone marrow transplantation for immune deficiency (although several deaths after transplantation have been reported)- Medications to suppress the immune system for those with autoimmune symptoms
- Acyclovir for recurrent herpes infections
- Imiquimod and cidofovir (an antiviral) for severe papilloma
virus infections of the skin - Agents that improve blood flow or decrease blood clotting to treat transient ischemic attacks ("mini strokes") or strokes
- Standard treatment of hypothyroidism
- Standard treatment of
scoliosis
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
|
---|
Cartilage-hair hypoplasia (see this term) is the main differential diagnosis.
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
-
Little People of America, Inc.
617 Broadway #518
Sonoma, CA 95476
Toll-free: 1-888-572-2001
Telephone: +1-714-368-3689
Fax: +1-707-721-1896
E-mail: [email protected]
Website: https://www.lpaonline.org/ -
The MAGIC Foundation
4200 Cantera Dr. #106
Warrenville, IL 60555
Toll-free: 800-362-4423
Telephone: 630-836-8200
Fax: 630-836-8181
E-mail: [email protected]
Website: https://www.magicfoundation.org/
Social Networking Websites
- Visit the following Facebook groups related to Schimke immunoosseous dysplasia:
The Little Giants Foundation
Organizations Providing General Support
-
Human Growth Foundation
997 Glen Cove Avenue, Suite 5
Glen Head, NY 11545
Toll-free: 1-800-451-6434
Fax: 516-671-4055
E-mail: [email protected]
Website: https://www.hgfound.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
- Genetics Home Reference (GHR) contains information on Schimke immunoosseous dysplasia. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
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 Schimke immunoosseous dysplasia. Click on the link to view a sample search on this topic.
References
- Morimoto M, Lewis DB, Lücke T, Boerkoel CF. Schimke Immunoosseous Dysplasia. GeneReviews. February 11, 2016; https://www.ncbi.nlm.nih.gov/books/NBK1376/.
- Schimke Immuno-osseous Dysplasia. National Organization for Rare Disorders (NORD). 2015; https://rarediseases.org/rare-diseases/schimke-immuno-osseous-dysplasia/.
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