JPD
MCID: PGT004
MIFTS: 49

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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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 based summary: Paget Disease, Juvenile, also known as hyperostosis corticalis deformans juvenilis, is related to periodontitis and hypercalcemia, and has symptoms including macrocephaly/macrocrania/megalocephaly/megacephaly, dense/thickened skull/calvarium/cranial/facial hyperostosis and anomalies of teeth and dentition. 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:46 239000

Aliases & Classifications for Paget Disease, Juvenile

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Sources:
42NIH Rare Diseases, 46OMIM, 44Novoseek, 21Genetics Home Reference, 62UMLS, 48Orphanet, 20GeneTests, 26ICD10 via Orphanet
See all sources

Paget Disease, Juvenile, Aliases & Descriptions:

Name: Paget Disease, Juvenile 42 46 44
Hyperostosis Corticalis Deformans Juvenilis 42 21 62
Juvenile Paget Disease 42 21 48
Hyperphosphatasia, Familial Idiopathic 42 21
Hyperphosphatasemia with Bone Disease 21 62
Osteoectasia with Hyperphosphatasia 21 62
Idiopathic Hyperphosphatasia 21 62
Hereditary Hyperphosphatasia 48 62
Paget Disease Juvenile Type 42 20
Juvenile Paget's Disease 21 48
Familial Osteoectasia 21 48
 
Jpd 42 21
Hyperphosphatasemia, Chronic Congenital Idiopathic 42
Chronic Congenital Idiopathic Hyperphosphatasaemia 62
Chronic Congenital Idiopathic Hyperphosphatasemia 21
Hyperostosid Corticalis Deformans Juvenilis 48
Familial Idiopathic Hyperphosphatasaemia 62
Familial Idiopathic Hyperphosphatasemia 21
Hyperphosphatasaemia with Bone Disease 62
Osteochalasia Desmalis Familiaris 21
Jpg 48


Classifications:

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


External Ids:

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

Related Diseases for Paget Disease, Juvenile

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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
1periodontitis30.1TNFSF11, TNFRSF11B
2hypercalcemia29.6CALCA, TNFRSF11A, TNFSF11, TNFRSF11B
3osteomyelitis10.3TNFSF11
4periapical granuloma10.3TNFSF11
5haim-munk syndrome10.2
6osteoectasia familial10.2
7renal osteodystrophy10.2CALCA, TNFRSF11B
8paget's disease of bone10.2CALCA, TNFRSF11A
9secondary hyperparathyroidism of renal origin10.1TNFRSF11B, CALCA
10giant cell reparative granuloma10.1CALCA, TNFRSF11A
11osteomalacia10.1TNFRSF11B, CALCA
12aneurysm10.1
13cushing's syndrome10.1CALCA, TNFRSF11B
14osteosclerosis10.1TNFSF11, TNFRSF11B
15papillon-lefevre disease10.0
16parkin type of early-onset parkinson disease10.0
17periodontitis 1, juvenile10.0
18aortic valve stenosis10.0TNFSF11, TNFRSF11B
19giant cell tumor10.0CALCA, TNFSF11
20cherubism10.0CALCA, TNFSF11
21thyroid hurthle cell carcinoma10.0TNFRSF11B, CALCA
22gingivitis10.0TNFSF11, TNFRSF11B
23beta thalassemia10.0TNFRSF11B, TNFSF11
24psoriatic arthritis10.0TNFSF11, TNFRSF11B
25ameloblastoma10.0TNFSF11, TNFRSF11B
26cholesteatoma10.0TNFSF11, TNFRSF11B
27ankylosing spondylitis10.0TNFSF11, TNFRSF11B
28arthropathy10.0TNFRSF11B, TNFSF11
29rheumatic disease10.0TNFRSF11B, TNFSF11
30synovitis9.9TNFRSF11B, TNFSF11
31multiple myeloma9.9TNFRSF11B, TNFSF11
32congenital heart disease9.8TNFSF11, TNFRSF11A
33hyperparathyroidism9.8TNFSF11, TNFRSF11B, CALCA
34polyostotic osteolytic dysplasia, hereditary expansile9.8TNFRSF11A, TNFSF11, TNFRSF11B
35osteopetrosis9.8TNFRSF11B, TNFSF11, TNFRSF11A
36bone cancer9.8TNFSF11, TNFRSF11B, TNFRSF11A
37periodontal disease9.8TNFRSF11B, TNFSF11, TNFRSF11A
38vascular disease9.8TNFRSF11B, TNFRSF11A, TNFSF11
39coronary artery anomaly9.8TNFSF11, TNFRSF11A, TNFRSF11B
40myeloma9.8TNFRSF11B, TNFRSF11A, TNFSF11
41osteosarcoma9.8TNFRSF11A, TNFRSF11B, TNFSF11
42chronic kidney failure9.8TNFSF11, TNFRSF11B
43rheumatoid arthritis9.7TNFRSF11B, TNFRSF11A, TNFSF11
44osteoporosis, postmenopausal9.6TNFRSF11A, CALCA, TNFRSF11B, TNFSF11
45secondary syphilis9.6TNFRSF11B, CALCA, TNFSF11, TNFRSF11A
46osteoporosis9.6CALCA, TNFRSF11B, TNFRSF11A, TNFSF11
47osteoarthritis9.6TNFSF11, TNFRSF11A, TNFRSF11B, CALCA
48prostate cancer9.6TNFRSF11B, TNFSF11, TNFRSF11A
49arthritis9.6CALCA, TNFRSF11B, TNFSF11, TNFRSF11A
50breast cancer9.5TNFSF11, TNFRSF11B, TNFRSF11A, CALCA

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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Symptoms by clinical synopsis from OMIM:

239000

Clinical features from OMIM:

239000

Symptoms:

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

HPO human phenotypes related to Paget Disease, Juvenile:

(show all 31)
id Description Frequency HPO Source Accession
1 abnormality of the teeth hallmark (90%) HP:0000164
2 macrocephaly hallmark (90%) HP:0000256
3 abnormality of the clavicles hallmark (90%) HP:0000889
4 hyperuricemia hallmark (90%) HP:0002149
5 recurrent fractures hallmark (90%) HP:0002757
6 short stature hallmark (90%) HP:0004322
7 reduced bone mineral density hallmark (90%) HP:0004349
8 craniofacial hyperostosis hallmark (90%) HP:0004493
9 bowing of the long bones hallmark (90%) HP:0006487
10 rough bone trabeculation hallmark (90%) HP:0100670
11 hearing impairment typical (50%) HP:0000365
12 optic atrophy typical (50%) HP:0000648
13 pectus carinatum typical (50%) HP:0000768
14 hypertension typical (50%) HP:0000822
15 abnormal retinal pigmentation typical (50%) HP:0007703
16 melanocytic nevus occasional (7.5%) HP:0000995
17 autosomal recessive inheritance HP:0000007
18 macrocephaly HP:0000256
19 retinal degeneration HP:0000546
20 osteoporosis HP:0000939
21 angioid streaks of the retina HP:0001102
22 muscle weakness HP:0001324
23 hyperuricemia HP:0002149
24 thickened calvaria HP:0002684
25 hyperphosphatemia HP:0002905
26 hydroxyprolinuria HP:0003080
27 elevated serum acid phosphatase HP:0003148
28 hydroxyprolinemia HP:0003260
29 short stature HP:0004322
30 premature loss of teeth HP:0006480
31 bowing of the long bones HP:0006487

Drugs & Therapeutics for Paget Disease, Juvenile

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Drug clinical trials:

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Genetic Tests for Paget Disease, Juvenile

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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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MalaCards organs/tissues related to Paget Disease, Juvenile:

32
Bone

Animal Models for Paget Disease, Juvenile or affiliated genes

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MGI Mouse Phenotypes related to Paget Disease, Juvenile:

36
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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Clinvar genetic disease variations for Paget Disease, Juvenile:

6
id Gene Name Type Significance SNP ID Assembly Location
1TNFRSF11Bnsv513786deletionPathogenic
2TNFRSF11BTNFRSF11B, 3-BP DEL, 182GACdeletionPathogenic
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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Expression patterns in normal tissues for genes affiliated with Paget Disease, Juvenile

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Pathways for genes affiliated with Paget Disease, Juvenile

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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 Pathway37
Development Prolactin receptor signaling60
Leptin signaling pathway37
9.0TNFSF11, TNFRSF11A
8
Show member pathways
8.5TNFRSF11A, TNFSF11, TNFRSF11B
98.5TNFRSF11A, TNFSF11, TNFRSF11B
10
Show member pathways
RANKL/RANK Signaling Pathway37
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 Pathway37
Apoptosis Modulation by HSP7037
HIV-1 Nef- Negative effector of Fas and TNF-alpha37
8.5TNFRSF11A, TNFSF11, TNFRSF11B
158.0CALCA, TNFRSF11B, TNFSF11, TNFRSF11A

Compounds for genes affiliated with Paget Disease, Juvenile

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Compounds related to Paget Disease, Juvenile according to GeneCards/GeneDecks:

(show top 50)    (show all 63)
idCompoundScoreTop Affiliating Genes
1etidronate449.8CALCA, TNFRSF11B
2pyridinoline449.8TNFRSF11B, CALCA
3nitroglycerin44 1110.7TNFRSF11B, CALCA
4hydroxyproline44 24 1111.5CALCA, TNFRSF11B
5hcc-1449.5TNFRSF11B, TNFSF11
6strontium ranelate449.5CALCA, TNFSF11
7tartrate449.5CALCA, TNFSF11
8geranylgeranyl pyrophosphate449.5TNFSF11, TNFRSF11B
9titanium449.4TNFRSF11B, TNFSF11
10polymyxin b449.4TNFRSF11B, TNFSF11
11ns 39844 6110.4TNFRSF11B, TNFSF11
12laccer449.4TNFRSF11A, TNFSF11
133-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide449.4TNFSF11, TNFRSF11B
14etanercept44 50 1111.3TNFRSF11B, TNFSF11
15infliximab44 50 1111.3TNFRSF11B, TNFSF11
16mevalonate449.2TNFRSF11B, TNFSF11
17celecoxib44 61 28 50 24 1114.1TNFRSF11B, TNFSF11
18teriparatide44 1110.1TNFSF11, TNFRSF11B, CALCA
19ibandronate44 1110.1TNFSF11, TNFRSF11B, CALCA
20vitamin k2449.0CALCA, TNFRSF11B, TNFSF11
21pamidronate44 50 1111.0TNFSF11, TNFRSF11B, CALCA
22risedronate44 50 28 61 1113.0CALCA, TNFRSF11B, TNFSF11
23clodronate44 50 1111.0TNFSF11, TNFRSF11B, CALCA
24pmma449.0CALCA, TNFRSF11B, TNFSF11
25deoxypyridinoline449.0TNFSF11, TNFRSF11B, CALCA
26zoledronic acid449.0TNFSF11, TNFRSF11B, CALCA
27alendronate44 50 1111.0TNFSF11, TNFRSF11B, CALCA
2825-hydroxyvitamin d449.0CALCA, TNFRSF11B, TNFSF11
29phosphorus449.0TNFSF11, TNFRSF11B, CALCA
30indomethacin44 28 61 1112.0TNFSF11, TNFRSF11B, CALCA
31polyethylene449.0TNFRSF11A, TNFSF11, TNFRSF11B
32vitamin d448.9CALCA, TNFRSF11B, TNFSF11
33forskolin44 50 1110.9CALCA, TNFRSF11B, TNFSF11
34hydroxyapatite448.9TNFRSF11A, TNFSF11, TNFRSF11B
35cyclosporin a44 28 6110.9TNFSF11, TNFRSF11B, CALCA
36gp 130448.9TNFRSF11B, TNFSF11, TNFRSF11A
37creatinine448.9TNFSF11, TNFRSF11B, CALCA
38prostaglandin448.9TNFRSF11B, TNFSF11, TNFRSF11A
39dhea448.8TNFRSF11B, TNFSF11
40testosterone44 61 24 1111.6TNFSF11, TNFRSF11B, CALCA
41denosumab44 119.4CALCA, TNFRSF11B, TNFSF11, TNFRSF11A
42raloxifene44 50 28 1111.4CALCA, TNFRSF11B, TNFSF11, TNFRSF11A
431,25 dihydroxy vitamin d3448.4CALCA, TNFRSF11B, TNFSF11, TNFRSF11A
44calcitriol44 61 24 1111.4CALCA, TNFRSF11B, TNFSF11, TNFRSF11A
45dexamethasone44 50 28 1111.4TNFRSF11B, TNFSF11, TNFRSF11A
46pge2448.4CALCA, TNFRSF11B, TNFSF11, TNFRSF11A
47vegf448.4TNFRSF11A, TNFSF11, TNFRSF11B, CALCA
48nitric oxide44 24 1110.4TNFRSF11A, TNFSF11, TNFRSF11B, CALCA
49estrogen448.4TNFRSF11A, TNFSF11, TNFRSF11B, CALCA
50calcium44 50 24 1111.2TNFRSF11A, TNFSF11, TNFRSF11B, CALCA

GO Terms for genes affiliated with Paget Disease, Juvenile

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet