MCID: PGT004
MIFTS: 48

Paget Disease, Juvenile malady

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

Aliases & Classifications for Paget Disease, Juvenile

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Sources:
46OMIM, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Paget Disease, Juvenile:

Name: Paget Disease, Juvenile 46 9 42 44
Hyperphosphatasemia with Bone Disease 21 22 61
Hereditary Hyperphosphatasia 42 48 61
Juvenile Paget Disease 42 21 48
Familial Osteoectasia 42 21 48
Hyperostosis Corticalis Deformans Juvenilis 42 21
Hyperostosid Corticalis Deformans Juvenilis 42 48
Hyperphosphatasia, Familial Idiopathic 42 21
Paget Disease Juvenile Type 42 20
Juvenile Paget's Disease 21 48
Jpg 42 48
 
Jpd 42 21
Hyperphosphatasemia, Chronic Congenital Idiopathic 42
Chronic Congenital Idiopathic Hyperphosphatasemia 21
Familial Idiopathic Hyperphosphatasemia 21
Osteoectasia with Hyperphosphatasia 21
Osteochalasia Desmalis Familiaris 21
Idiopathic Hyperphosphatasia 21
Juvenile Pagets Disease 42
Periodontitis, Juvenile 61
Osteoectasia Familial 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
hereditary hyperphosphatasia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy


External Ids:

OMIM46 239000
Orphanet48 2801
ICD10 via Orphanet26 M88.0, M88.8, M88.9

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 hyperphosphatasemia with bone disease, 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 retina, 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

Related Diseases for Paget Disease, Juvenile

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Diseases related to Paget Disease, Juvenile via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
idRelated DiseaseScoreTop Affiliating Genes
1periodontitis30.0TNFSF11, TNFRSF11B
2hypercalcemia29.6TNFRSF11A, TNFSF11, TNFRSF11B, CALCA
3osteomyelitis10.3TNFSF11
4periapical granuloma10.3TNFSF11
5papillon-lefevre syndrome10.2
6haim-munk syndrome10.2
7renal osteodystrophy10.2TNFRSF11B, CALCA
8paget disease of bone10.2CALCA, TNFRSF11A
9secondary hyperparathyroidism of renal origin10.1CALCA, TNFRSF11B
10giant cell reparative granuloma10.1TNFRSF11A, CALCA
11aneurysm10.1
12osteomalacia10.1TNFRSF11B, CALCA
13cushing's syndrome10.1TNFRSF11B, CALCA
14periodontitis 1, juvenile10.0
15parkin type of early-onset parkinson disease10.0
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
29synovitis9.9TNFRSF11B, TNFSF11
30multiple myeloma9.9TNFRSF11B, TNFSF11
31congenital heart disease9.8TNFSF11, TNFRSF11A
32hyperparathyroidism9.8TNFSF11, TNFRSF11B, CALCA
33osteolysis, familial expansile9.8TNFRSF11B, TNFSF11, TNFRSF11A
34osteopetrosis9.8TNFRSF11B, TNFSF11, TNFRSF11A
35bone cancer9.8TNFRSF11A, TNFSF11, TNFRSF11B
36periodontal disease9.8TNFRSF11B, TNFSF11, TNFRSF11A
37vascular disease9.8TNFRSF11A, TNFSF11, TNFRSF11B
38coronary artery disease9.8TNFRSF11B, TNFSF11, TNFRSF11A
39myeloma9.8TNFRSF11B, TNFSF11, TNFRSF11A
40osteosarcoma, somatic9.8TNFRSF11A, TNFSF11, TNFRSF11B
41chronic kidney failure9.7TNFRSF11B, TNFSF11
42rheumatoid arthritis9.7TNFRSF11A, TNFSF11, TNFRSF11B
43marchiafava bignami disease9.6TNFRSF11A, TNFSF11, TNFRSF11B, CALCA
44secondary syphilis9.6TNFRSF11A, TNFSF11, TNFRSF11B, CALCA
45osteoporosis9.6TNFRSF11A, TNFSF11, TNFRSF11B, CALCA
46osteoarthritis9.6TNFRSF11A, TNFSF11, TNFRSF11B, CALCA
47prostate cancer9.6TNFRSF11B, TNFSF11, TNFRSF11A
48arthritis9.6CALCA, TNFRSF11B, TNFSF11, TNFRSF11A
49breast cancer9.5CALCA, 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:

 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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Search NIH Clinical Center for Paget Disease, Juvenile

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
2 Hyperphosphatasemia with Bone Disease22

Anatomical Context for Paget Disease, Juvenile

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MalaCards organs/tissues related to Paget Disease, Juvenile:

31
Bone, Retina

Animal Models for Paget Disease, Juvenile or affiliated genes

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MGI Mouse Phenotypes related to Paget Disease, Juvenile:

35
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:

5
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 Suite gene sharing:

(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 pathway59
9.0TNFSF11, TNFRSF11A
59.0TNFRSF11A, TNFSF11
69.0TNFSF11, TNFRSF11A
7
Show member pathways
Prolactin Signaling Pathway36
Development Prolactin receptor signaling59
Leptin signaling pathway36
9.0TNFSF11, TNFRSF11A
8
Show member pathways
8.5TNFRSF11A, TNFSF11, TNFRSF11B
98.5TNFRSF11A, TNFSF11, TNFRSF11B
10
Show member pathways
RANKL/RANK Signaling Pathway36
Apoptosis and survival APRIL and BAFF signaling59
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 pathway59
TWEAK Signaling Pathway36
Apoptosis Modulation by HSP7036
HIV-1 Nef- Negative effector of Fas and TNF-alpha36
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 Suite gene sharing:

(show top 50)    (show all 63)
idCompoundScoreTop Affiliating Genes
1etidronate449.8TNFRSF11B, CALCA
2pyridinoline449.8CALCA, TNFRSF11B
3nitroglycerin44 1110.7CALCA, TNFRSF11B
4hydroxyproline44 24 1111.5TNFRSF11B, 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 1111.3TNFSF11, TNFRSF11B
15infliximab44 50 1111.3TNFSF11, TNFRSF11B
16mevalonate449.2TNFSF11, TNFRSF11B
17celecoxib44 60 28 50 24 1114.1TNFRSF11B, TNFSF11
18teriparatide44 1110.1TNFRSF11B, CALCA, TNFSF11
19ibandronate44 1110.1TNFSF11, TNFRSF11B, CALCA
20vitamin k2449.0TNFSF11, TNFRSF11B, CALCA
21pamidronate44 50 1111.0CALCA, TNFRSF11B, TNFSF11
22risedronate44 50 28 60 1113.0CALCA, TNFRSF11B, TNFSF11
23clodronate44 50 1111.0TNFSF11, CALCA, TNFRSF11B
24pmma449.0TNFSF11, CALCA, TNFRSF11B
25zoledronic acid449.0TNFRSF11B, TNFSF11, CALCA
26deoxypyridinoline449.0CALCA, TNFRSF11B, TNFSF11
27alendronate44 50 1111.0TNFSF11, TNFRSF11B, CALCA
2825-hydroxyvitamin d449.0TNFSF11, CALCA, TNFRSF11B
29phosphorus449.0TNFSF11, TNFRSF11B, CALCA
30polyethylene449.0TNFRSF11B, TNFSF11, TNFRSF11A
31indomethacin44 28 60 1112.0TNFSF11, TNFRSF11B, CALCA
32vitamin d448.9TNFRSF11B, TNFSF11, CALCA
33forskolin44 50 1110.9TNFSF11, TNFRSF11B, CALCA
34hydroxyapatite448.9TNFRSF11B, TNFSF11, TNFRSF11A
35cyclosporin a44 28 6010.9TNFRSF11B, CALCA, TNFSF11
36gp 130448.9TNFSF11, TNFRSF11B, TNFRSF11A
37creatinine448.9TNFSF11, CALCA, TNFRSF11B
38prostaglandin448.9TNFSF11, TNFRSF11B, TNFRSF11A
39dhea448.8TNFRSF11B, TNFSF11
40testosterone44 60 24 1111.6TNFRSF11B, CALCA, TNFSF11
41denosumab44 119.4TNFRSF11B, CALCA, TNFSF11, TNFRSF11A
42raloxifene44 50 28 1111.4TNFRSF11B, TNFSF11, TNFRSF11A, CALCA
431,25 dihydroxy vitamin d3448.4TNFRSF11A, TNFSF11, CALCA, TNFRSF11B
44calcitriol44 60 24 1111.4CALCA, TNFRSF11B, TNFSF11, TNFRSF11A
45dexamethasone44 50 28 1111.4TNFRSF11B, TNFSF11, TNFRSF11A
46pge2448.4CALCA, TNFRSF11B, TNFSF11, TNFRSF11A
47vegf448.4TNFRSF11B, TNFSF11, TNFRSF11A, CALCA
48nitric oxide44 24 1110.4CALCA, TNFRSF11B, TNFSF11, TNFRSF11A
49estrogen448.4CALCA, TNFRSF11B, TNFSF11, TNFRSF11A
50calcium44 50 24 1111.2TNFRSF11A, 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 Suite gene sharing:

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 Suite gene sharing:

(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 Suite gene sharing:

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

Sources for Paget Disease, Juvenile

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet