JPD
MCID: PGT004
MIFTS: 48

Paget Disease, Juvenile (JPD) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Paget Disease, Juvenile

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Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 hypercalcemia and periodontitis, 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 Rheumatoid arthritis. The compounds etidronate and pyridinoline have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are limbs/digits/tail and integument.

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:47 239000

Aliases & Classifications for Paget Disease, Juvenile

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Sources:
43NIH Rare Diseases, 47OMIM, 45Novoseek, 21Genetics Home Reference, 49Orphanet, 20GeneTests, 62UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
juvenile paget disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood; Age of death: Normal


Aliases & Descriptions:

paget disease, juvenile 43 47 45
juvenile paget disease 43 21 49
hyperostosis corticalis deformans juvenilis 43 21
hyperphosphatasia, familial idiopathic 43 21
hyperphosphatasemia with bone disease 21 62
hereditary hyperphosphatasia 49 62
paget disease juvenile type 43 20
juvenile paget's disease 21 49
familial osteoectasia 21 49
jpd 43 21
hyperphosphatasemia, chronic congenital idiopathic 43
chronic congenital idiopathic hyperphosphatasemia 21
hyperostosid corticalis deformans juvenilis 49
familial idiopathic hyperphosphatasemia 21
osteoectasia with hyperphosphatasia 21
osteochalasia desmalis familiaris 21
idiopathic hyperphosphatasia 21
jpg 49


External Ids:

OMIM47 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 all 50)
idRelated DiseaseScoreTop Affiliating Genes
1hypercalcemia30.0TNFRSF11A, TNFSF11, TNFRSF11B, CALCA
2periodontitis30.0TNFSF11, TNFRSF11B
3haim-munk syndrome10.2
4osteoectasia familial10.2
5aneurysm10.1
6osteomyelitis10.1TNFSF11
7periapical granuloma10.1TNFSF11
8renal osteodystrophy10.0TNFRSF11B, CALCA
9paget's disease of bone10.0CALCA, TNFRSF11A
10papillon-lefevre disease10.0
11parkin type of early-onset parkinson disease10.0
12periodontitis 1, juvenile10.0
13secondary hyperparathyroidism of renal origin10.0CALCA, TNFRSF11B
14giant cell reparative granuloma10.0TNFRSF11A, CALCA
15osteomalacia10.0TNFRSF11B, CALCA
16cushing's syndrome10.0TNFRSF11B, CALCA
17osteosclerosis10.0TNFRSF11B, TNFSF11
18giant cell tumor10.0CALCA, TNFSF11
19aortic valve stenosis10.0TNFRSF11B, TNFSF11
20cherubism10.0TNFSF11, CALCA
21thyroid cancer10.0CALCA, TNFRSF11B
22gingivitis10.0TNFSF11, TNFRSF11B
23beta thalassemia10.0TNFSF11, TNFRSF11B
24psoriatic arthritis10.0TNFSF11, TNFRSF11B
25adenoameloblastoma10.0TNFRSF11B, TNFSF11
26cholesteatoma10.0TNFRSF11B, TNFSF11
27ankylosing spondylitis10.0TNFRSF11B, TNFSF11
28arthropathy10.0TNFRSF11B, TNFSF11
29rheumatic disease10.0TNFSF11, TNFRSF11B
30synovitis10.0TNFRSF11B, TNFSF11
31multiple myeloma10.0TNFRSF11B, TNFSF11
32congenital heart disease10.0TNFSF11, TNFRSF11A
33hyperparathyroidism10.0TNFSF11, TNFRSF11B, CALCA
34polyostotic osteolytic dysplasia, hereditary expansile9.9TNFRSF11B, TNFSF11, TNFRSF11A
35osteopetrosis9.9TNFRSF11B, TNFSF11, TNFRSF11A
36bone carcinoma9.9TNFRSF11A, TNFSF11, TNFRSF11B
37periodontal disease9.9TNFRSF11B, TNFSF11, TNFRSF11A
38vascular disease9.9TNFRSF11A, TNFSF11, TNFRSF11B
39coronary artery disease9.9TNFRSF11B, TNFSF11, TNFRSF11A
40myeloma9.9TNFRSF11B, TNFSF11, TNFRSF11A
41osteosarcoma9.9TNFRSF11A, TNFSF11, TNFRSF11B
42chronic kidney failure9.9TNFRSF11B, TNFSF11
43rheumatoid arthritis9.9TNFRSF11A, TNFSF11, TNFRSF11B
44osteoporosis, postmenopausal9.9CALCA, TNFRSF11B, TNFSF11, TNFRSF11A
45secondary syphilis9.9TNFRSF11A, TNFSF11, TNFRSF11B, CALCA
46osteoporosis9.9TNFRSF11A, TNFSF11, TNFRSF11B, CALCA
47osteoarthritis9.9TNFRSF11A, TNFSF11, TNFRSF11B, CALCA
48prostate cancer9.9TNFRSF11B, TNFSF11, TNFRSF11A
49arthritis9.9CALCA, TNFRSF11B, TNFSF11, TNFRSF11A
50breast cancer9.9CALCA, TNFRSF11B, TNFSF11, TNFRSF11A

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



Diseases related to paget disease, juvenile

Symptoms for Paget Disease, Juvenile

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Sources:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

239000

Clinical features from OMIM:

239000

Symptoms:

49 (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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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Paget Disease, Juvenile

Search NIH Clinical Center for Paget Disease, Juvenile

Genetic Tests for Paget Disease, Juvenile

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Sources:
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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33MalaCards
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MalaCards organs/tissues related to Paget Disease, Juvenile:

33
Bone

Animal Models for Paget Disease, Juvenile or affiliated genes

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Sources:
37MGI
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MGI Mouse Phenotypes related to Paget Disease, Juvenile:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.5TNFRSF11B, TNFSF11, TNFRSF11A
2MP:00107718.5CALCA, TNFSF11, TNFRSF11A
3MP:00053828.4TNFRSF11A, TNFSF11, TNFRSF11B
4MP:00053908.1CALCA, TNFRSF11B, TNFSF11, TNFRSF11A
5MP:00107687.7CALCA, TNFRSF11B, TNFSF11, TNFRSF11A

Publications for Paget Disease, Juvenile

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Variations for Paget Disease, Juvenile

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Paget Disease, Juvenile:

1
id Gene Name Type Significance SNP ID Assembly Location
1TNFRSF11Bnsv513786deletionPathogenic/card/paget_disease_juvenile
2TNFRSF11BTNFRSF11B, 3-BP DEL, 182GACdeletionPathogenic/card/paget_disease_juvenile
3TNFRSF11BNM_002546.3(TNFRSF11B): c.260G> A (p.Cys87Tyr)single nucleotide variantPathogenicrs104894091GRCh37Chr 8, 119945310: 119945310
4TNFRSF11BNM_002546.3(TNFRSF11B): c.349T> C (p.Phe117Leu)single nucleotide variantPathogenicrs104894092GRCh37Chr 8, 119945221: 119945221
5TNFRSF11BTNFRSF11B, 3-BP DEL AND 2-BP INSindelPathogenic

Expression for genes affiliated with Paget Disease, Juvenile

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Sources:
2BioGPS, 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:
50PathCards, 38NCBI BioSystems Database, 30KEGG, 5Cell Signaling Technology, 60Thomson Reuters, 53QIAGEN, 57SinoBiological, 54R&D Systems, 55Reactome
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Pathways related to Paget Disease, Juvenile according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1TNFRSF11B, TNFSF11
29.0TNFRSF11A, TNFSF11
39.0TNFSF11, TNFRSF11A
4
Show member pathways
Apoptosis and survival Anti apoptotic TNFs NF kB IAP pathway60
9.0TNFSF11, TNFRSF11A
59.0TNFRSF11A, TNFSF11
69.0TNFSF11, TNFRSF11A
7
Show member pathways
Prolactin Signaling Pathway38
Development Prolactin receptor signaling60
Leptin signaling pathway38
9.0TNFSF11, TNFRSF11A
8
Show member pathways
8.5TNFRSF11A, TNFSF11, TNFRSF11B
98.5TNFRSF11A, TNFSF11, TNFRSF11B
10
Show member pathways
RANKL/RANK Signaling Pathway38
Apoptosis and survival APRIL and BAFF signaling60
8.5TNFRSF11B, TNFSF11, TNFRSF11A
118.5TNFRSF11A, TNFSF11, TNFRSF11B
12
Show member pathways
8.5TNFRSF11B, TNFSF11, TNFRSF11A
13
Show member pathways
8.5TNFRSF11B, TNFSF11, TNFRSF11A
14
Show member pathways
Apoptosis and survival TNFR1 signaling pathway60
TWEAK Signaling Pathway38
Apoptosis Modulation by HSP7038
HIV-1 Nef- Negative effector of Fas and TNF-alpha38
8.5TNFRSF11A, TNFSF11, TNFRSF11B
158.0CALCA, TNFRSF11B, TNFSF11, TNFRSF11A

Compounds for genes affiliated with Paget Disease, Juvenile

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Sources:
45Novoseek, 11DrugBank, 24HMDB, 61Tocris Bioscience, 51PharmGKB, 29IUPHAR
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Compounds related to Paget Disease, Juvenile according to GeneCards/GeneDecks:

(show top 50)    (show all 63)
idCompoundScoreTop Affiliating Genes
1etidronate459.8CALCA, TNFRSF11B
2pyridinoline459.8TNFRSF11B, CALCA
3nitroglycerin45 1110.7TNFRSF11B, CALCA
4hydroxyproline45 24 1111.5CALCA, TNFRSF11B
5hcc-1459.5TNFRSF11B, TNFSF11
6strontium ranelate459.5CALCA, TNFSF11
7tartrate459.5CALCA, TNFSF11
8geranylgeranyl pyrophosphate459.5TNFSF11, TNFRSF11B
9titanium459.4TNFRSF11B, TNFSF11
10polymyxin b459.4TNFRSF11B, TNFSF11
11ns 39845 6110.4TNFRSF11B, TNFSF11
12laccer459.4TNFRSF11A, TNFSF11
133-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide459.4TNFSF11, TNFRSF11B
14etanercept45 51 1111.3TNFRSF11B, TNFSF11
15infliximab45 51 1111.3TNFRSF11B, TNFSF11
16mevalonate459.2TNFRSF11B, TNFSF11
17celecoxib45 61 29 51 24 1114.1TNFRSF11B, TNFSF11
18teriparatide45 1110.1TNFSF11, TNFRSF11B, CALCA
19ibandronate45 1110.1TNFSF11, TNFRSF11B, CALCA
20vitamin k2459.0CALCA, TNFRSF11B, TNFSF11
21pamidronate45 51 1111.0TNFSF11, TNFRSF11B, CALCA
22risedronate45 51 29 61 1113.0CALCA, TNFRSF11B, TNFSF11
23clodronate45 51 1111.0TNFSF11, TNFRSF11B, CALCA
24pmma459.0CALCA, TNFRSF11B, TNFSF11
25deoxypyridinoline459.0TNFSF11, TNFRSF11B, CALCA
26zoledronic acid459.0TNFSF11, TNFRSF11B, CALCA
27alendronate45 51 1111.0TNFSF11, TNFRSF11B, CALCA
2825-hydroxyvitamin d459.0CALCA, TNFRSF11B, TNFSF11
29phosphorus459.0TNFSF11, TNFRSF11B, CALCA
30indomethacin45 29 61 1112.0TNFSF11, TNFRSF11B, CALCA
31polyethylene459.0TNFRSF11A, TNFSF11, TNFRSF11B
32vitamin d458.9CALCA, TNFRSF11B, TNFSF11
33forskolin45 51 1110.9CALCA, TNFRSF11B, TNFSF11
34hydroxyapatite458.9TNFRSF11A, TNFSF11, TNFRSF11B
35cyclosporin a45 29 6110.9TNFSF11, TNFRSF11B, CALCA
36gp 130458.9TNFRSF11B, TNFSF11, TNFRSF11A
37creatinine458.9TNFSF11, TNFRSF11B, CALCA
38prostaglandin458.9TNFRSF11B, TNFSF11, TNFRSF11A
39dhea458.8TNFRSF11B, TNFSF11
40testosterone45 61 24 1111.6TNFSF11, TNFRSF11B, CALCA
41denosumab45 119.4CALCA, TNFRSF11B, TNFSF11, TNFRSF11A
42raloxifene45 51 29 1111.4CALCA, TNFRSF11B, TNFSF11, TNFRSF11A
431,25 dihydroxy vitamin d3458.4CALCA, TNFRSF11B, TNFSF11, TNFRSF11A
44calcitriol45 61 24 1111.4CALCA, TNFRSF11B, TNFSF11, TNFRSF11A
45dexamethasone45 51 29 1111.4TNFRSF11B, TNFSF11, TNFRSF11A
46pge2458.4CALCA, TNFRSF11B, TNFSF11, TNFRSF11A
47vegf458.4TNFRSF11A, TNFSF11, TNFRSF11B, CALCA
48nitric oxide45 24 1110.4TNFRSF11A, TNFSF11, TNFRSF11B, CALCA
49estrogen458.4TNFRSF11A, TNFSF11, TNFRSF11B, CALCA
50calcium45 51 24 1111.2TNFRSF11A, TNFSF11, TNFRSF11B, CALCA

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 regionGO:0055768.6CALCA, TNFRSF11B, TNFSF11
2extracellular spaceGO:0056158.3CALCA, TNFRSF11B, TNFSF11

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of bone resorptionGO:0457799.6CALCA, TNFRSF11B
2cell-cell signalingGO:0072679.3CALCA, TNFRSF11A
3positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signalingGO:0718489.3TNFRSF11A, TNFSF11
4TNFSF11-mediated signaling pathwayGO:0718479.3TNFRSF11A, TNFSF11
5positive regulation of fever generation by positive regulation of prostaglandin secretionGO:0718129.3TNFRSF11A, TNFSF11
6mammary gland alveolus developmentGO:0607499.2TNFSF11, TNFRSF11A
7osteoclast differentiationGO:0303169.2TNFRSF11A, TNFSF11
8tumor necrosis factor-mediated signaling pathwayGO:0332099.1TNFSF11, TNFRSF11A
9ossificationGO:0015039.1TNFSF11, TNFRSF11A
10positive regulation of sequence-specific DNA binding transcription factor activityGO:0510919.0TNFRSF11A, TNFSF11
11positive regulation of NF-kappaB transcription factor activityGO:0510928.9TNFSF11, TNFRSF11A
12monocyte chemotaxisGO:0025488.8CALCA, TNFSF11, TNFRSF11A
13positive regulation of I-kappaB kinase/NF-kappaB signalingGO:0431238.7TNFSF11, TNFRSF11A

Molecular functions related to Paget Disease, Juvenile according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1receptor activityGO:0048729.3TNFRSF11B, TNFRSF11A
2cytokine activityGO:0051258.8TNFRSF11B, TNFSF11

Products for genes affiliated with Paget Disease, Juvenile

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  • Antibodies
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  • Antibodies

Sources for Paget Disease, Juvenile

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet