JPD
MCID: PGT004
MIFTS: 46

Paget Disease, Juvenile (JPD) malady

Bone diseases, Fetal diseases, Genetic diseases categories

Summaries for Paget Disease, Juvenile

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21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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. last updated: 6/13/2011

MalaCards: Paget Disease, Juvenile, also known as juvenile paget disease, is related to periodontitis and hypercalcemia, and has symptoms including subcutaneous nodules/lipomas/tumefaction/swelling, pigmented naevi/naevus pigmentosus/lentigo and chronic arterial hypertension. An important gene associated with Paget Disease, Juvenile is TNFRSF11B (tumor necrosis factor receptor superfamily, member 11b), and among its related pathways are Osteoblast Signaling and NF-kappa B signaling pathway. The compounds indomethacin and etidronate have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are craniofacial and skeleton.

Genetics Home Reference:21 Juvenile Paget disease is a disorder that affects bone growth. This disease causes bones to be abnormally large, misshapen, and easily broken (fractured).

Description from OMIM:46 239000

Aliases & Classifications for Paget Disease, Juvenile

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42NIH Rare Diseases, 46OMIM, 44Novoseek, 21Genetics Home Reference, 20GeneTests, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases, Genetic diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

48
juvenile paget disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

paget disease, juvenile 42 46 44
juvenile paget disease 42 20 21 48
hyperostosis corticalis deformans juvenilis 42 21
hyperphosphatasia, familial idiopathic 42 21
hyperphosphatasemia with bone disease 21 60
hereditary hyperphosphatasia 48 60
juvenile paget's disease 21 48
familial osteoectasia 21 48
jpd 42 21
hyperphosphatasemia, chronic congenital idiopathic 42
chronic congenital idiopathic hyperphosphatasemia 21
hyperostosid corticalis deformans juvenilis 48
familial idiopathic hyperphosphatasemia 21
osteoectasia with hyperphosphatasia 21
osteochalasia desmalis familiaris 21
idiopathic hyperphosphatasia 21
jpg 48


External Ids:

OMIM46 239000
ICD10 via Orphanet26 M88.0, M88.8, M88.9

Related Diseases for Paget Disease, Juvenile

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Paget Disease, Juvenile via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 55)
idRelated DiseaseScoreTop Affiliating Genes
1periodontitis30.2TNFSF11, TNFRSF11B
2hypercalcemia30.1TNFRSF11A, TNFSF11, CALCA, TNFRSF11B
3haim-munk syndrome10.2
4osteoectasia familial10.1
5aneurysm disease10.1
6papillon-lefevre disease10.0
7parkin type of early-onset parkinson disease10.0
8periodontitis 1, juvenile10.0
9root resorption10.0TNFRSF11B
10anorexia nervosa10.0TNFRSF11B
11primary hyperoxaluria10.0TNFRSF11B
12thyroiditis10.0CALCA
13cystic fibrosis10.0TNFRSF11B
14periapical granuloma10.0TNFSF11
15acute myocardial infarction10.0TNFSF11
16uremia10.0TNFRSF11B
17renal osteodystrophy10.0TNFRSF11B, CALCA
18neuropathy10.0CALCA
19osteomyelitis10.0TNFSF11
20paget's disease of bone10.0CALCA, TNFRSF11A
21secondary hyperparathyroidism of renal origin10.0TNFRSF11B, CALCA
22giant cell reparative granuloma10.0CALCA, TNFRSF11A
23osteomalacia10.0TNFRSF11B, CALCA
24cushing's syndrome10.0CALCA, TNFRSF11B
25giant cell tumor10.0CALCA, TNFSF11
26osteosclerosis10.0TNFSF11, TNFRSF11B
27cholesteatoma10.0TNFRSF11B, TNFSF11
28arthropathy10.0TNFSF11, TNFRSF11B
29multiple myeloma10.0TNFRSF11B, TNFSF11
30aortic valve stenosis10.0TNFSF11, TNFRSF11B
31cherubism10.0TNFSF11, CALCA
32beta thalassemia10.0TNFSF11, TNFRSF11B
33psoriatic arthritis10.0TNFRSF11B, TNFSF11
34adenoameloblastoma10.0TNFSF11, TNFRSF11B
35thyroid cancer10.0CALCA, TNFRSF11B
36ankylosing spondylitis10.0TNFSF11, TNFRSF11B
37gingivitis10.0TNFRSF11B, TNFSF11
38rheumatic disease10.0TNFSF11, TNFRSF11B
39melanoma10.0TNFSF11, TNFRSF11B
40polyostotic osteolytic dysplasia, hereditary expansile10.0TNFSF11, TNFRSF11A, TNFRSF11B
41hyperparathyroidism10.0TNFRSF11B, TNFSF11, CALCA
42osteopetrosis10.0TNFRSF11B, TNFSF11, TNFRSF11A
43bone carcinoma10.0TNFRSF11A, TNFSF11, TNFRSF11B
44periodontal disease10.0TNFRSF11A, TNFSF11, TNFRSF11B
45osteosarcoma10.0TNFRSF11B, TNFSF11, TNFRSF11A
46vascular disease10.0TNFRSF11A, TNFSF11, TNFRSF11B
47coronary artery disease10.0TNFRSF11B, TNFSF11, TNFRSF11A
48myeloma10.0TNFRSF11A, TNFRSF11B, TNFSF11
49rheumatoid arthritis10.0TNFSF11, TNFRSF11B, TNFRSF11A
50osteoporosis, postmenopausal10.0CALCA, TNFRSF11A, TNFRSF11B, TNFSF11

Graphical network of the top 20 diseases related to Paget Disease, Juvenile:



Diseases related to paget disease, juvenile

Clinical Features for Paget Disease, Juvenile

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46OMIM, 48Orphanet
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Clinical features from OMIM:

239000

Clinical synopsis from OMIM:

239000

Symptoms:

48 (show all 18)
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • pigmented naevi/naevus pigmentosus/lentigo
  • chronic arterial hypertension
  • pectus carinatum
  • hearing loss/hypoacusia/deafness
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • retinitis pigmentosa/retinal pigmentary changes
  • short stature/dwarfism/nanism
  • autosomal recessive inheritance
  • hyperuricemia
  • bowed diaphysis/diaphyses/long bones
  • rough trabeculation of bone
  • mutiple fractures/bone fragility
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • clavicle absent/abnormal
  • anomalies of teeth and dentition
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • macrocephaly/macrocrania/megalocephaly/megacephaly

Drugs & Therapeutics for Paget Disease, Juvenile

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Paget Disease, Juvenile

Search CenterWatch for Paget Disease, Juvenile

Genetic Tests for Paget Disease, Juvenile

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20GeneTests
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Genetic tests related to Paget Disease, Juvenile:

id Genetic test Affiliating Genes
1 Paget Disease, Juvenile20 TNFRSF11B

Anatomical Context for Paget Disease, Juvenile

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32MalaCards
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MalaCards organs/tissues related to Paget Disease, Juvenile:

32
Bone

Animal Models for Paget Disease, Juvenile or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Paget Disease, Juvenile:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.5TNFRSF11B, TNFSF11, TNFRSF11A
2MP:00053908.2TNFRSF11B, TNFSF11, TNFRSF11A

Publications for Paget Disease, Juvenile

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Genetic Variations for Paget Disease, Juvenile

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Expression for genes affiliated with Paget Disease, Juvenile

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Paget Disease, Juvenile

Search GEO for disease gene expression data for Paget Disease, Juvenile.

Pathways for genes affiliated with Paget Disease, Juvenile

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Sources:
37NCBI BioSystems Database, 29KEGG, 12EMD Millipore, 4Cell Signaling Technology, 51QIAGEN, 55SinoBiological, 52R&D Systems
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Pathways related to Paget Disease, Juvenile according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1TNFSF11, TNFRSF11B
29.0TNFRSF11A, TNFSF11
3
Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway
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9.0TNFSF11, TNFRSF11A
49.0TNFRSF11A, TNFSF11
59.0TNFRSF11A, TNFSF11
6
Development Prolactin receptor signaling
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9.0TNFSF11, TNFRSF11A
7
Hide members
8.5TNFSF11, TNFRSF11A, TNFRSF11B
8
Hide members
8.5TNFRSF11A, TNFSF11, TNFRSF11B
9
Hide members
8.5TNFRSF11B, TNFSF11, TNFRSF11A
108.5TNFRSF11B, TNFSF11, TNFRSF11A
11
Hide members
8.5TNFRSF11B, TNFSF11, TNFRSF11A
128.5TNFRSF11A, TNFSF11, TNFRSF11B
13
Hide members
8.5TNFRSF11A, TNFSF11, TNFRSF11B
14
Transcription Role of VDR in regulation of genes involved in osteoporosis
Hide members
8.0TNFRSF11B, CALCA, TNFRSF11A, TNFSF11

Compounds for genes affiliated with Paget Disease, Juvenile

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Sources:
44Novoseek, 59Tocris Bioscience, 28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB
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Compounds related to Paget Disease, Juvenile according to GeneCards/GeneDecks:

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1indomethacin44 59 28 1113.3CALCA
2etidronate449.8TNFRSF11B, CALCA
3pyridinoline449.8CALCA, TNFRSF11B
4nitroglycerin44 1110.7TNFRSF11B, CALCA
5hydroxyproline44 11 2411.6CALCA, TNFRSF11B
6hcc-1449.5TNFRSF11B, TNFSF11
7strontium ranelate449.5TNFSF11, CALCA
8tartrate449.5CALCA, TNFSF11
9geranylgeranyl pyrophosphate449.5TNFSF11, TNFRSF11B
10titanium449.5TNFRSF11B, TNFSF11
11polymyxin b449.4TNFSF11, TNFRSF11B
12ns 39844 5910.4TNFRSF11B, TNFSF11
133-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide449.4TNFRSF11B, TNFSF11
14laccer449.4TNFSF11, TNFRSF11A
15etanercept44 49 1111.4TNFSF11, TNFRSF11B
16creatinine449.4TNFRSF11B, TNFSF11
17infliximab44 49 1111.3TNFRSF11B, TNFSF11
18mevalonate449.3TNFSF11, TNFRSF11B
19dhea449.2TNFRSF11B, TNFSF11
20teriparatide44 1110.1CALCA, TNFSF11, TNFRSF11B
21ibandronate44 1110.1TNFRSF11B, TNFSF11, CALCA
22vitamin k2449.0TNFRSF11B, TNFSF11, CALCA
23pamidronate44 49 1111.0TNFRSF11B, TNFSF11, CALCA
24risedronate44 59 49 28 1113.0CALCA, TNFSF11, TNFRSF11B
25clodronate44 49 1111.0TNFRSF11B, TNFSF11, CALCA
26pmma449.0TNFRSF11B, TNFSF11, CALCA
27celecoxib44 59 28 49 11 2414.0TNFRSF11B, TNFSF11
28zoledronic acid449.0CALCA, TNFSF11, TNFRSF11B
29deoxypyridinoline449.0CALCA, TNFSF11, TNFRSF11B
30alendronate44 49 1111.0TNFRSF11B, TNFSF11, CALCA
3125-hydroxyvitamin d449.0CALCA, TNFSF11, TNFRSF11B
32phosphorus449.0TNFRSF11B, TNFSF11, CALCA
33polyethylene449.0TNFRSF11B, TNFSF11, TNFRSF11A
34vitamin d449.0TNFRSF11B, TNFSF11, CALCA
35forskolin44 49 1110.9TNFRSF11B, TNFSF11, CALCA
36hydroxyapatite448.9TNFRSF11A, TNFSF11, TNFRSF11B
37gp 130448.9TNFRSF11B, TNFSF11, TNFRSF11A
38cyclosporin a44 28 5910.9CALCA, TNFSF11, TNFRSF11B
39prostaglandin448.9TNFRSF11A, TNFSF11, TNFRSF11B
40procollagen448.8TNFRSF11B, TNFSF11
41testosterone44 59 11 2411.7TNFRSF11B, TNFSF11, CALCA
42dexamethasone44 49 28 1111.5TNFRSF11B, TNFSF11, TNFRSF11A
43denosumab44 119.4TNFRSF11B, TNFSF11, TNFRSF11A, CALCA
44raloxifene44 28 49 1111.4TNFRSF11B, TNFSF11, TNFRSF11A, CALCA
451,25 dihydroxy vitamin d3448.4CALCA, TNFRSF11A, TNFSF11, TNFRSF11B
46calcitriol44 59 11 2411.4CALCA, TNFRSF11A, TNFSF11, TNFRSF11B
47vegf448.4CALCA, TNFRSF11A, TNFSF11, TNFRSF11B
48nitric oxide44 11 2410.4TNFRSF11B, TNFSF11, TNFRSF11A, CALCA
49estrogen448.3TNFRSF11B, TNFSF11, TNFRSF11A, CALCA
50calcium44 49 11 2411.0CALCA, TNFRSF11A, TNFSF11, TNFRSF11B

GO Terms for genes affiliated with Paget Disease, Juvenile

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16Gene Ontology
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Cellular components related to Paget Disease, Juvenile according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:0056158.6TNFRSF11B, TNFSF11, CALCA

Biological processes related to Paget Disease, Juvenile according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of bone resorptionGO:0457799.6TNFRSF11B, CALCA
2positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signalingGO:0718489.3TNFRSF11A, TNFSF11
3TNFSF11-mediated signaling pathwayGO:0718479.3TNFRSF11A, TNFSF11
4positive regulation of fever generation by positive regulation of prostaglandin secretionGO:0718129.2TNFRSF11A, TNFSF11
5mammary gland alveolus developmentGO:0607499.2TNFRSF11A, TNFSF11
6osteoclast differentiationGO:0303169.1TNFSF11, TNFRSF11A
7tumor necrosis factor-mediated signaling pathwayGO:0332099.1TNFSF11, TNFRSF11A
8ossificationGO:0015039.0TNFRSF11A, TNFSF11
9positive regulation of I-kappaB kinase/NF-kappaB cascadeGO:0431239.0TNFSF11, TNFRSF11A
10positive regulation of sequence-specific DNA binding transcription factor activityGO:0510918.9TNFSF11, TNFRSF11A
11monocyte chemotaxisGO:0025488.8TNFSF11, TNFRSF11A, CALCA
12positive regulation of NF-kappaB transcription factor activityGO:0510928.7TNFSF11, TNFRSF11A

Products for genes affiliated with Paget Disease, Juvenile

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Paget Disease, Juvenile

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet