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Disease Profile
Osteopetrosis autosomal recessive 4
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
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ICD-10
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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)
OPTB4; Autosomal recessive osteopetrosis type 4; Osteopetrosis infantile malignant 2
Categories
Congenital and Genetic Diseases; Eye diseases; Musculoskeletal 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 blistering of the skin |
Blistering, generalized
Blisters
[ more ] |
0008066 |
| Abnormality of epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 |
| Abnormality of hair texture | 0010719 | |
| Abnormality of temperature regulation |
Poor temperature regulation
|
0004370 |
| Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
| Abnormality of the ribs |
Rib abnormalities
|
0000772 |
| Abnormality of visual evoked potentials | 0000649 | |
|
Low number of red blood cells or hemoglobin
|
0001903 | |
| Bone pain | 0002653 | |
| Bowing of the long bones |
Bowed long bones
Bowing of long bones
[ more ] |
0006487 |
| Chronic rhinitis | 0002257 | |
| 0001363 | ||
| Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ] |
0000684 |
| Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] |
0001510 |
| Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
| Hepatomegaly |
Enlarged liver
|
0002240 |
|
Too much cerebrospinal fluid in the brain
|
0000238 | |
| Lymphadenopathy |
Swollen lymph nodes
|
0002716 |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
| Narrow chest |
Low chest circumference
Narrow shoulders
[ more ] |
0000774 |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Opsoclonus | 0010543 | |
| Optic nerve compression | 0007807 | |
| Osteopetrosis |
Harder, denser, fracture-prone bones
|
0011002 |
| Otitis media |
Middle ear infection
|
0000388 |
| Pallor | 0000980 | |
| Premature loss of primary teeth |
Early loss of baby teeth
Premature loss of baby teeth
[ more ] |
0006323 |
| Recurrent fractures |
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ] |
0002757 |
| Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 |
| Reduced bone mineral density |
Low solidness and mass of the bones
|
0004349 |
| Splenomegaly |
Increased spleen size
|
0001744 |
| Tremor | 0001337 | |
| Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ] |
0000505 |
| 5%-29% of people have these symptoms | ||
| Abnormal pulmonary valve morphology | 0001641 | |
| Apnea | 0002104 | |
| Bruising |
Bruise easily
Easy bruisability
Easy bruising
[ more ] |
0000978 |
| Cranial nerve paralysis | 0006824 | |
| Hypocalcemia |
Low blood calcium levels
|
0002901 |
| Hypophosphatemia |
Low blood phosphate level
|
0002148 |
| Pulmonary arterial |
Increased blood pressure in blood vessels of lungs
|
0002092 |
| Pulmonary artery stenosis |
Narrowing of lung artery
|
0004415 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Facial palsy |
Bell's palsy
|
0010628 |
|
Enlarged liver and spleen
|
0001433 | |
| Optic atrophy | 0000648 | |
| Optic disc pallor | 0000543 | |
| Petechiae | 0000967 | |
| Reticulocytosis |
Increased immature red blood cells
Increased number of immature red blood cells
[ more ] |
0001923 |
| Sclerotic vertebral endplates | 0004576 | |
|
Low platelet count
|
0001873 | |
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
|
|---|
|
Infantile onset osteopetrosis should be distinguished from the much milder autosomal dominant adult disease and the carbonic anhydrase II deficiency syndrome, which is associated with renal tubular acidosis and less severe osteopetrosis.
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.
Social Networking Websites
-
RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).
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 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
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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) 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 Osteopetrosis autosomal recessive 4. 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.