JPD
MCID: PGT004
MIFTS: 50

Paget Disease, Juvenile (JPD) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

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 abnormality of the teeth, macrocephaly and abnormality of the clavicles. 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:22 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, 22Genetics Home Reference, 61UMLS, 48Orphanet, 21GeneTests, 27ICD10 via Orphanet
See all sources

Paget Disease, Juvenile, Aliases & Descriptions:

Name: Paget Disease, Juvenile 42 46 44
Hyperostosis Corticalis Deformans Juvenilis 42 22 61
Juvenile Paget Disease 42 22 48
Hyperphosphatasia, Familial Idiopathic 42 22
Hyperphosphatasemia with Bone Disease 22 61
Osteoectasia with Hyperphosphatasia 22 61
Idiopathic Hyperphosphatasia 22 61
Hereditary Hyperphosphatasia 48 61
Paget Disease Juvenile Type 42 21
Juvenile Paget's Disease 22 48
Familial Osteoectasia 22 48
 
Jpd 42 22
Hyperphosphatasemia, Chronic Congenital Idiopathic 42
Chronic Congenital Idiopathic Hyperphosphatasaemia 61
Chronic Congenital Idiopathic Hyperphosphatasemia 22
Hyperostosid Corticalis Deformans Juvenilis 48
Familial Idiopathic Hyperphosphatasaemia 61
Familial Idiopathic Hyperphosphatasemia 22
Hyperphosphatasaemia with Bone Disease 61
Osteochalasia Desmalis Familiaris 22
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 Orphanet27 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, Juvenile21 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:

7
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
19.1TNFSF11, TNFRSF11B
29.0TNFSF11, TNFRSF11A
39.0TNFRSF11A, TNFSF11
4
Show member pathways
Apoptosis and survival Anti apoptotic TNFs NF kB IAP pathway59
9.0TNFRSF11A, TNFSF11
59.0TNFSF11, TNFRSF11A
69.0TNFRSF11A, TNFSF11
7
Show member pathways
Prolactin Signaling Pathway37
Development Prolactin receptor signaling59
Leptin signaling pathway37
9.0TNFRSF11A, TNFSF11
8
Show member pathways
8.5TNFRSF11B, TNFSF11, TNFRSF11A
98.5TNFRSF11B, TNFSF11, TNFRSF11A
10
Show member pathways
RANKL/RANK Signaling Pathway37
Apoptosis and survival APRIL and BAFF signaling59
8.5TNFRSF11B, TNFSF11, TNFRSF11A
118.5TNFRSF11B, TNFSF11, TNFRSF11A
12
Show member pathways
8.5TNFSF11, TNFRSF11A, TNFRSF11B
13
Show member pathways
8.5TNFSF11, TNFRSF11B, TNFRSF11A
14
Show member pathways
Apoptosis and survival TNFR1 signaling pathway59
TWEAK Signaling Pathway37
Apoptosis Modulation by HSP7037
HIV-1 Nef- Negative effector of Fas and TNF-alpha37
8.5TNFRSF11B, TNFSF11, TNFRSF11A
158.0CALCA, TNFRSF11A, TNFSF11, TNFRSF11B

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
1etidronate449.8TNFRSF11B, CALCA
2pyridinoline449.8CALCA, TNFRSF11B
3nitroglycerin44 1210.7CALCA, TNFRSF11B
4hydroxyproline44 25 1211.5TNFRSF11B, CALCA
5hcc-1449.5TNFSF11, TNFRSF11B
6strontium ranelate449.5TNFSF11, CALCA
7tartrate449.5TNFSF11, CALCA
8geranylgeranyl pyrophosphate449.5TNFRSF11B, TNFSF11
9titanium449.4TNFSF11, TNFRSF11B
10polymyxin b449.4TNFRSF11B, TNFSF11
11ns 39844 6010.4TNFSF11, TNFRSF11B
12laccer449.4TNFSF11, TNFRSF11A
133-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide449.4TNFRSF11B, TNFSF11
14etanercept44 50 1211.3TNFSF11, TNFRSF11B
15infliximab44 50 1211.3TNFSF11, TNFRSF11B
16mevalonate449.2TNFSF11, TNFRSF11B
17celecoxib44 60 29 50 25 1214.1TNFRSF11B, TNFSF11
18teriparatide44 1210.1TNFRSF11B, CALCA, TNFSF11
19ibandronate44 1210.1TNFSF11, TNFRSF11B, CALCA
20vitamin k2449.0TNFSF11, TNFRSF11B, CALCA
21pamidronate44 50 1211.0CALCA, TNFRSF11B, TNFSF11
22risedronate44 50 29 60 1213.0CALCA, TNFRSF11B, TNFSF11
23clodronate44 50 1211.0TNFSF11, CALCA, TNFRSF11B
24pmma449.0TNFSF11, CALCA, TNFRSF11B
25zoledronic acid449.0TNFRSF11B, TNFSF11, CALCA
26deoxypyridinoline449.0CALCA, TNFRSF11B, TNFSF11
27alendronate44 50 1211.0TNFSF11, TNFRSF11B, CALCA
2825-hydroxyvitamin d449.0TNFSF11, CALCA, TNFRSF11B
29phosphorus449.0TNFSF11, TNFRSF11B, CALCA
30polyethylene449.0TNFRSF11B, TNFSF11, TNFRSF11A
31indomethacin44 29 60 1212.0TNFSF11, TNFRSF11B, CALCA
32vitamin d448.9TNFRSF11B, TNFSF11, CALCA
33forskolin44 50 1210.9TNFSF11, TNFRSF11B, CALCA
34hydroxyapatite448.9TNFRSF11B, TNFSF11, TNFRSF11A
35cyclosporin a44 29 6010.9TNFRSF11B, CALCA, TNFSF11
36gp 130448.9TNFSF11, TNFRSF11B, TNFRSF11A
37creatinine448.9TNFSF11, CALCA, TNFRSF11B
38prostaglandin448.9TNFSF11, TNFRSF11B, TNFRSF11A
39dhea448.8TNFRSF11B, TNFSF11
40testosterone44 60 25 1211.6TNFRSF11B, CALCA, TNFSF11
41denosumab44 129.4TNFRSF11B, CALCA, TNFSF11, TNFRSF11A
42raloxifene44 50 29 1211.4TNFRSF11B, TNFSF11, TNFRSF11A, CALCA
431,25 dihydroxy vitamin d3448.4TNFRSF11A, TNFSF11, CALCA, TNFRSF11B
44calcitriol44 60 25 1211.4CALCA, TNFRSF11B, TNFSF11, TNFRSF11A
45dexamethasone44 50 29 1211.4TNFRSF11B, TNFSF11, TNFRSF11A
46pge2448.4CALCA, TNFRSF11B, TNFSF11, TNFRSF11A
47vegf448.4TNFRSF11B, TNFSF11, TNFRSF11A, CALCA
48nitric oxide44 25 1210.4CALCA, TNFRSF11B, TNFSF11, TNFRSF11A
49estrogen448.4CALCA, TNFRSF11B, TNFSF11, TNFRSF11A
50calcium44 50 25 1211.2TNFRSF11A, TNFSF11, CALCA, TNFRSF11B

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

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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet