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Disease Profile
Juvenile Paget disease
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
Childhood
ICD-10
M88.0 M88.8 M88.9
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)
JPD; Hyperostosis corticalis deformans juvenilis; Hyperphosphatasia, familial idiopathic;
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Juvenile Paget disease is a very rare condition that affects bone growth. This condition causes bones to be abnormally large, misshapen, and easily broken (fractured). Signs and symptoms usually appear in infancy or early childhood. As bones grow, they become weaker and more deformed. This condition affects the entire skeleton, resulting in widespread bone and joint pain. The bones of the skull tend to grow unusually large and thick, which can lead to
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 clavicle morphology |
Abnormal collarbone
|
0000889 |
Abnormality of the dentition |
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ] |
0000164 |
Bowing of the long bones |
Bowed long bones
Bowing of long bones
[ more ] |
0006487 |
Coarse metaphyseal trabecularization | 0100670 | |
Cranial hyperostosis | 0004437 | |
Hyperuricemia |
High blood uric acid level
|
0002149 |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
0000939 | ||
Recurrent fractures |
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ] |
0002757 |
Decreased body height
Small stature
[ more ] |
0004322 | |
30%-79% of people have these symptoms | ||
Abnormality of retinal pigmentation | 0007703 | |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
0000822 | ||
Optic atrophy | 0000648 | |
Pectus carinatum |
Pigeon chest
|
0000768 |
5%-29% of people have these symptoms | ||
Macular scar | 0200056 | |
Melanocytic nevus |
Beauty mark
|
0000995 |
Motor delay | 0001270 | |
Retinopathy |
Noninflammatory retina disease
|
0000488 |
Subcutaneous nodule |
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ] |
0001482 |
Percent of people who have these symptoms is not available through HPO | ||
Angioid streaks of the fundus | 0001102 | |
Ankylosis | 0031013 | |
0000007 | ||
Barrel-shaped chest |
Barrel chest
|
0001552 |
Elevated alkaline phosphatase |
Greatly elevated alkaline phosphatase
High serum alkaline phosphatase
Increased alkaline phosphatase
Increased serum alkaline phosphatase
[ more ] |
0003155 |
Elevated serum acid phosphatase |
Acid phosphatase elevated
|
0003148 |
Hydroxyprolinemia |
High blood hydroxyproline levels
|
0003260 |
Hydroxyprolinuria |
Elevated urinary hydroxyproline
|
0003080 |
Hyperphosphatemia |
High blood phosphate levels
|
0002905 |
Increased bone mineral density |
Increased bone density
|
0011001 |
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
Muscle weakness |
Muscular weakness
|
0001324 |
Premature loss of teeth |
Early tooth loss
Loss of teeth
Premature teeth loss
Premature tooth loss
[ more ] |
0006480 |
Progressive |
Worsens with time
|
0003676 |
Sensorineural hearing impairment | 0000407 | |
Thickened calvaria |
Increased thickness of skull cap
Thickened skull cap
[ more ] |
0002684 |
0003828 |
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 Paget's Association
Suite 5, Moorfield House
Moorside Road
Swinton
Manchester
M27 0EW
United Kingdom
Telephone: 0161 799 4646
E-mail: https://www.paget.org.uk/contact/
Website: https://www.paget.org.uk/
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
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Juvenile Paget disease. This website is maintained by the National Library of Medicine.
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 Juvenile Paget disease. Click on the link to view a sample search on this topic.
References
- Juvenile Paget disease. Genetics Home Reference. February 2010; https://ghr.nlm.nih.gov/condition/juvenile-paget-disease. Accessed 11/3/2015.