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Disease Profile

Juvenile Paget disease

Prevalence
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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Childhood

ageofonset-childhood.svg

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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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 hearing loss. The condition also affects bones of the spine (vertebrae), leading to abnormal curvature of the spine. Additionally, weight-bearing long bones in the legs tend to bow and fracture easily, which can interfere with standing and walking. Juvenile Paget disease is caused by mutations in the TNFRSF11B gene and is inherited in an autosomal recessive fashion.[1]

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
Osteoporosis
0000939
Recurrent fractures
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures

[ more ]

0002757
Short stature
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
Hypertension
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
Autosomal recessive inheritance
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
Variable expressivity
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

    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

        1. Juvenile Paget disease. Genetics Home Reference. February 2010; https://ghr.nlm.nih.gov/condition/juvenile-paget-disease. Accessed 11/3/2015.