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Disease Profile
Osteopetrosis
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
All ages
ICD-10
Q78.2
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)
Osteopetroses; Marble bones; Marble bone disease;
Categories
Congenital and Genetic Diseases
Summary
Osteopetrosis refers to a group of rare,
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 cortical bone morphology | 0003103 | |
Abnormal cranial nerve morphology | 0001291 | |
Abnormal pelvis bone ossification | 0009106 | |
Abnormality of the ribs |
Rib abnormalities
|
0000772 |
Abnormality of vertebral epiphysis morphology |
Abnormal shape of the end part of the vertebra bone
|
0100734 |
Abnormality of vision |
Abnormality of sight
Vision issue
[ more ] |
0000504 |
Bone pain | 0002653 | |
Cranial nerve paralysis | 0006824 | |
0001363 | ||
Fever | 0001945 | |
Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] |
0001510 |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Hypocalcemia |
Low blood calcium levels
|
0002901 |
Hypophosphatemia |
Low blood phosphate level
|
0002148 |
Lymphadenopathy |
Swollen lymph nodes
|
0002716 |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
Osteomyelitis |
Bone infection
|
0002754 |
Osteopetrosis |
Harder, denser, fracture-prone bones
|
0011002 |
0009830 | ||
Petechiae | 0000967 | |
Recurrent fractures |
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ] |
0002757 |
Reduced bone mineral density |
Low solidness and mass of the bones
|
0004349 |
Sandwich appearance of vertebral bodies | 0004618 | |
Sclerotic vertebral endplates | 0004576 | |
30%-79% of people have these symptoms | ||
Bruising |
Bruise easily
Easy bruisability
Easy bruising
[ more ] |
0000978 |
Decreased immune function
|
0002721 | |
Leukocytosis |
Elevated white blood count
High white blood count
Increased blood leukocyte number
[ more ] |
0001974 |
Persistence of primary teeth |
Delayed loss of baby teeth
Failure to lose baby teeth
Retained baby teeth
[ more ] |
0006335 |
5%-29% of people have these symptoms | ||
Abnormal chorioretinal morphology | 0000532 | |
Abnormal pulmonary valve morphology | 0001641 | |
Bone marrow hypocellularity |
Bone marrow failure
|
0005528 |
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ] |
0000670 |
Genu valgum |
Knock knees
|
0002857 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ] |
0000303 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Osteoarthritis |
Degenerative joint disease
|
0002758 |
Renal tubular acidosis |
Accumulation of acid in body due to kidney problem
|
0001947 |
Sleep apnea |
Pauses in breathing while sleeping
|
0010535 |
Splenomegaly |
Increased spleen size
|
0001744 |
Low platelet count
|
0001873 |
Cause
The genes associated with osteopetrosis are involved in the development and/or function of osteoclasts,[4]
- Mutations in the CLCN7 gene cause most cases of
autosomal dominant osteopetrosis, 10-15% of cases ofautosomal recessive osteopetrosis (the most severe form), and all known cases of intermediate autosomal osteopetrosis. - Mutations in the TCIRG1 gene cause about 50% of cases of autosomal recessive osteopetrosis.
- Mutations in the IKBKG gene cause
X-linked osteopetrosis. - Mutations in other genes are less common causes of osteopetrosis.
- In about 30% percent of affected people, the cause is unknown.[5]
People with questions about the specific cause of osteopetrosis in themselves or a family member are encouraged to speak with a genetics professional.
Diagnosis
The Genetic Testing Registry (GTR) is a central online resource for information about genetic tests. The intended audience for the GTR is health care professionals and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Click on the link above to view the information that the GTR provides about genetic testing for osteopetrosis.
Treatment
Nutritional support is important to improve growth and it also enhances responsiveness to other treatment options. A calcium-deficient diet has been beneficial for some affected people.
Treatment is necessary for the infantile form:
- Vitamin D (calcitriol) appears to stimulate dormant osteoclasts, which stimulates bone resorption. Large doses of calcitriol with restricted calcium intake sometimes improves osteopetrosis dramatically, but the improvement seen with calcitrol is not sustained when therapy is stopped.
- Gamma
interferon can have long-term benefits. It improveswhite blood cell function (leading to fewer infections), decreases bone volume, and increases bone marrow volume. - Erythropoietin can be used for
anemia , andcorticosteroids can be used for anemia and to stimulate bone resorption.[3]
In pediatric (childhood) osteopetrosis, surgery is sometimes needed because of fractures.
Adult osteopetrosis typically does not require treatment, but complications of the condition may require intervention. Surgery may be needed for aesthetic or functional reasons (such as multiple fractures, deformity, and loss of function), or for severe degenerative joint disease.[3]
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Interferon gamma-1b(Brand name: Actimmune®) Manufactured by InterMune , Inc.
FDA-approved indication: Delaying time to disease progression in patients with severe, malignant osteopetrosis.
National Library of Medicine Drug Information Portal
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
|
---|
Alternative diagnoses include fluorosis; beryllium, lead and bismuth poisoning; myelofibrosis; Paget's disease (sclerosing form); and malignancies (lymphoma, osteoblastic cancer metastases) (see these terms).
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
-
The OsteoPETrosis Society (OPETS)
Telephone: 980-292-3921
E-mail: [email protected], [email protected]
Website: https://www.osteopetrosis.org/
Facebook page: https://www.facebook.com/osteopetrosis
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 Osteopetrosis. This website is maintained by the National Library of Medicine.
- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
- 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.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Merck Manual for health care professionals provides information on Osteopetrosis.
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- 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) lists the subtypes and associated genes for Osteopetrosis in a table called Phenotypic Series. Each entry in OMIM includes 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 Osteopetrosis. Click on the link to view a sample search on this topic.
References
- Zornitza Stark and Ravi Savarirayan. Osteopetrosis. Orphanet. October, 2012; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2781.
- David D. Sherry Frank Pessler. Osteopetroses. Merck Manual. 2016; https://www.merckmanuals.com/home/children-s-health-issues/bone-disorders-in-children/osteopetroses.
- Robert Blank. Osteopetrosis. Medscape Reference. December 17, 2014; https://emedicine.medscape.com/article/123968-overview.
- Zornitza Stark and Ravi Savarirayan. Osteopetrosis. Orphanet J Rare Dis. 2009; 4:5:https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-4-5.
- Osteopetrosis. Genetics Home Reference. September 2010; https://ghr.nlm.nih.gov/condition/osteopetrosis.
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