MCID: PGT004
MIFTS: 55

Paget Disease, Juvenile malady

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

Summaries for Paget Disease, Juvenile

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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 based summary: Paget Disease, Juvenile, also known as hyperostosis corticalis deformans juvenilis, is related to hypercalcemia and periodontitis, 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 retina, and related mouse phenotypes are limbs/digits/tail and integument.

Genetics Home Reference:23 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:
47OMIM, 11diseasecard, 43NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 45Novoseek, 49Orphanet, 24GTR, 62UMLS, 28ICD10 via Orphanet
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Paget Disease, Juvenile, Aliases & Descriptions:

Name: Paget Disease, Juvenile 47 11 43 45
Hyperostosis Corticalis Deformans Juvenilis 43 23 62
Hyperphosphatasemia with Bone Disease 23 24 62
Hereditary Hyperphosphatasia 43 49 62
Juvenile Paget Disease 43 23 49
Familial Osteoectasia 43 23 49
Hyperostosid Corticalis Deformans Juvenilis 43 49
Hyperphosphatasia, Familial Idiopathic 43 23
Osteoectasia with Hyperphosphatasia 23 62
Idiopathic Hyperphosphatasia 23 62
Paget Disease Juvenile Type 43 22
Juvenile Paget's Disease 23 49
 
Jpg 43 49
Jpd 43 23
Hyperphosphatasemia, Chronic Congenital Idiopathic 43
Chronic Congenital Idiopathic Hyperphosphatasaemia 62
Chronic Congenital Idiopathic Hyperphosphatasemia 23
Familial Idiopathic Hyperphosphatasaemia 62
Familial Idiopathic Hyperphosphatasemia 23
Hyperphosphatasaemia with Bone Disease 62
Osteochalasia Desmalis Familiaris 23
Juvenile Pagets Disease 43
Osteoectasia Familial 43


Classifications:

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


Characteristics (Orphanet epidemiological data):

49
hereditary hyperphosphatasia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy


External Ids:

OMIM47 239000
Orphanet49 2801
ICD10 via Orphanet28 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 48)
idRelated DiseaseScoreTop Affiliating Genes
1hypercalcemia30.1TNFRSF11A, TNFSF11, TNFRSF11B, CALCA
2periodontitis30.1TNFSF11, TNFRSF11B
3papillon-lefevre syndrome10.2
4haim-munk syndrome10.2
5aneurysm10.1
6periodontitis 1, juvenile10.1
7parkin type of early-onset parkinson disease10.1
8osteomyelitis10.0TNFSF11
9periapical granuloma10.0TNFSF11
10renal osteodystrophy10.0TNFRSF11B, CALCA
11paget disease of bone10.0CALCA, TNFRSF11A
12secondary hyperparathyroidism of renal origin10.0CALCA, TNFRSF11B
13giant cell reparative granuloma10.0TNFRSF11A, CALCA
14osteomalacia10.0TNFRSF11B, CALCA
15cushing's syndrome10.0TNFRSF11B, CALCA
16hyperostosis, endosteal10.0TNFRSF11B, TNFSF11
17giant cell tumor10.0CALCA, TNFSF11
18aortic valve disease 210.0TNFRSF11B, TNFSF11
19cherubism10.0TNFSF11, CALCA
20thyroid cancer10.0CALCA, TNFRSF11B
21gingivitis10.0TNFSF11, TNFRSF11B
22thalassemia, hispanic gamma-delta-beta10.0TNFSF11, TNFRSF11B
23psoriatic arthritis10.0TNFSF11, TNFRSF11B
24ameloblastoma10.0TNFRSF11B, TNFSF11
25cholesteatoma10.0TNFRSF11B, TNFSF11
26spondyloarthropathy 110.0TNFRSF11B, TNFSF11
27arthropathy10.0TNFRSF11B, TNFSF11
28rheumatic disease10.0TNFSF11, TNFRSF11B
29synovitis10.0TNFRSF11B, TNFSF11
30multiple myeloma10.0TNFRSF11B, TNFSF11
31congenital heart disease10.0TNFSF11, TNFRSF11A
32hyperparathyroidism10.0TNFSF11, TNFRSF11B, CALCA
33osteolysis, familial expansile10.0TNFRSF11B, TNFSF11, TNFRSF11A
34osteopetrosis10.0TNFRSF11B, TNFSF11, TNFRSF11A
35bone cancer10.0TNFRSF11A, TNFSF11, TNFRSF11B
36periodontal disease10.0TNFRSF11B, TNFSF11, TNFRSF11A
37vascular disease10.0TNFRSF11A, TNFSF11, TNFRSF11B
38coronary artery disease10.0TNFRSF11B, TNFSF11, TNFRSF11A
39myeloma10.0TNFRSF11B, TNFSF11, TNFRSF11A
40osteosarcoma, somatic10.0TNFRSF11A, TNFSF11, TNFRSF11B
41chronic kidney failure10.0TNFRSF11B, TNFSF11
42rheumatoid arthritis10.0TNFRSF11A, TNFSF11, TNFRSF11B
43secondary syphilis9.9TNFRSF11A, TNFSF11, TNFRSF11B, CALCA
44osteoporosis9.9TNFRSF11A, TNFSF11, TNFRSF11B, CALCA
45osteoarthritis9.9TNFRSF11A, TNFSF11, TNFRSF11B, CALCA
46prostate cancer9.9TNFRSF11B, TNFSF11, TNFRSF11A
47arthritis9.9CALCA, TNFRSF11B, TNFSF11, TNFRSF11A
48breast 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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Symptoms by clinical synopsis from OMIM:

239000

Clinical features from OMIM:

239000

Symptoms:

 49 (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, Juvenile22 TNFRSF11B
2 Hyperphosphatasemia with Bone Disease24

Anatomical Context for Paget Disease, Juvenile

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MalaCards organs/tissues related to Paget Disease, Juvenile:

33
Bone, Retina

Animal Models for Paget Disease, Juvenile or affiliated genes

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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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Clinvar genetic disease variations for Paget Disease, Juvenile:

7
id Gene Variation 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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Search GEO for disease gene expression data for Paget Disease, Juvenile.

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 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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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 1310.7TNFRSF11B, CALCA
4hydroxyproline45 26 1311.5CALCA, 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 1311.3TNFRSF11B, TNFSF11
15infliximab45 51 1311.3TNFRSF11B, TNFSF11
16mevalonate459.2TNFRSF11B, TNFSF11
17celecoxib45 61 30 51 26 1314.1TNFRSF11B, TNFSF11
18teriparatide45 1310.1TNFSF11, TNFRSF11B, CALCA
19ibandronate45 1310.1TNFSF11, TNFRSF11B, CALCA
20vitamin k2459.0CALCA, TNFRSF11B, TNFSF11
21pamidronate45 51 1311.0TNFSF11, TNFRSF11B, CALCA
22risedronate45 51 30 61 1313.0CALCA, TNFRSF11B, TNFSF11
23clodronate45 51 1311.0TNFSF11, TNFRSF11B, CALCA
24pmma459.0CALCA, TNFRSF11B, TNFSF11
25deoxypyridinoline459.0TNFSF11, TNFRSF11B, CALCA
26zoledronic acid459.0TNFSF11, TNFRSF11B, CALCA
27alendronate45 51 1311.0TNFSF11, TNFRSF11B, CALCA
2825-hydroxyvitamin d459.0CALCA, TNFRSF11B, TNFSF11
29phosphorus459.0TNFSF11, TNFRSF11B, CALCA
30indomethacin45 30 61 1312.0TNFSF11, TNFRSF11B, CALCA
31polyethylene459.0TNFRSF11A, TNFSF11, TNFRSF11B
32vitamin d458.9CALCA, TNFRSF11B, TNFSF11
33forskolin45 51 1310.9CALCA, TNFRSF11B, TNFSF11
34hydroxyapatite458.9TNFRSF11A, TNFSF11, TNFRSF11B
35cyclosporin a45 30 6110.9TNFSF11, TNFRSF11B, CALCA
36gp 130458.9TNFRSF11B, TNFSF11, TNFRSF11A
37creatinine458.9TNFSF11, TNFRSF11B, CALCA
38prostaglandin458.9TNFRSF11B, TNFSF11, TNFRSF11A
39dhea458.8TNFRSF11B, TNFSF11
40testosterone45 61 26 1311.6TNFSF11, TNFRSF11B, CALCA
41denosumab45 139.4CALCA, TNFRSF11B, TNFSF11, TNFRSF11A
42raloxifene45 51 30 1311.4CALCA, TNFRSF11B, TNFSF11, TNFRSF11A
431,25 dihydroxy vitamin d3458.4CALCA, TNFRSF11B, TNFSF11, TNFRSF11A
44calcitriol45 61 26 1311.4CALCA, TNFRSF11B, TNFSF11, TNFRSF11A
45dexamethasone45 51 30 1311.4TNFRSF11B, TNFSF11, TNFRSF11A
46pge2458.4CALCA, TNFRSF11B, TNFSF11, TNFRSF11A
47vegf458.4TNFRSF11A, TNFSF11, TNFRSF11B, CALCA
48nitric oxide45 26 1310.4TNFRSF11A, TNFSF11, TNFRSF11B, CALCA
49estrogen458.4TNFRSF11A, TNFSF11, TNFRSF11B, CALCA
50calcium45 51 26 1311.2TNFRSF11A, 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:00055768.6CALCA, TNFRSF11B, TNFSF11
2extracellular spaceGO:00056158.3CALCA, 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:00457799.6CALCA, TNFRSF11B
2cell-cell signalingGO:00072679.3CALCA, TNFRSF11A
3positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signalingGO:00718489.3TNFRSF11A, TNFSF11
4TNFSF11-mediated signaling pathwayGO:00718479.3TNFRSF11A, TNFSF11
5positive regulation of fever generation by positive regulation of prostaglandin secretionGO:00718129.3TNFRSF11A, TNFSF11
6mammary gland alveolus developmentGO:00607499.2TNFSF11, TNFRSF11A
7osteoclast differentiationGO:00303169.2TNFRSF11A, TNFSF11
8tumor necrosis factor-mediated signaling pathwayGO:00332099.1TNFSF11, TNFRSF11A
9ossificationGO:00015039.1TNFSF11, TNFRSF11A
10positive regulation of sequence-specific DNA binding transcription factor activityGO:00510919.0TNFRSF11A, TNFSF11
11positive regulation of NF-kappaB transcription factor activityGO:00510928.9TNFSF11, TNFRSF11A
12monocyte chemotaxisGO:00025488.8CALCA, TNFSF11, TNFRSF11A
13positive regulation of I-kappaB kinase/NF-kappaB signalingGO:00431238.7TNFSF11, TNFRSF11A

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

idNameGO IDScoreTop Affiliating Genes
1receptor activityGO:00048729.3TNFRSF11B, TNFRSF11A
2cytokine activityGO:00051258.8TNFRSF11B, TNFSF11

Products for genes affiliated with Paget Disease, Juvenile

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Sources for Paget Disease, Juvenile

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet