MCID: PGT008
MIFTS: 42

Paget Disease of Bone 5, Juvenile-Onset malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Paget Disease of Bone 5, Juvenile-Onset

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Aliases & Descriptions for Paget Disease of Bone 5, Juvenile-Onset:

Name: Paget Disease of Bone 5, Juvenile-Onset 49 45 67
Hereditary Hyperphosphatasia 45 51 67 65
Juvenile Paget Disease 45 23 51 67
Hyperostosis Corticalis Deformans Juvenilis 45 23 67
Hyperphosphatasemia with Bone Disease 23 24 65
Paget Disease, Juvenile 11 22 47
Jpd 45 23 67
Hyperostosid Corticalis Deformans Juvenilis 45 51
Hyperphosphatasia, Familial Idiopathic 45 23
Juvenile Paget's Disease 23 51
Familial Osteoectasia 23 51
Jpg 45 51
 
Hyperphosphatasemia, Chronic Congenital Idiopathic 45
Chronic Congenital Idiopathic Hyperphosphatasemia 23
Chronic Congenital Idiopathic Hyperphosphatasia 67
Familial Idiopathic Hyperphosphatasemia 23
Osteoectasia with Hyperphosphatasia 23
Osteochalasia Desmalis Familiaris 23
Idiopathic Hyperphosphatasia 23
Paget Disease Juvenile Type 45
Periodontitis, Juvenile 65
Juvenile Pagets Disease 45
Osteoectasia, Familial 67
Pdb5 67

Characteristics:

Orphanet epidemiological data:

51
hereditary hyperphosphatasia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy

HPO:

61
paget disease of bone 5, juvenile-onset:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 239000
Orphanet51 2801
ICD10 via Orphanet28 M88.0, M88.8, M88.9
MedGen34 C0268414
MeSH36 D010001
UMLS65 C0268414, C0238163

Summaries for Paget Disease of Bone 5, Juvenile-Onset

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NIH Rare Diseases:45 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: 11/3/2015

MalaCards based summary: Paget Disease of Bone 5, Juvenile-Onset, also known as hereditary hyperphosphatasia, is related to periodontitis 1, juvenile and paget's disease of bone, and has symptoms including rough bone trabeculation, bowing of the long bones and craniofacial hyperostosis. An important gene associated with Paget Disease of Bone 5, Juvenile-Onset is TNFRSF11B (Tumor Necrosis Factor Receptor Superfamily Member 11b), and among its related pathways are Osteoblast Signaling and Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway. Affiliated tissues include bone and retina.

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).

OMIM:49 Paget disease of bone-5 is an autosomal recessive, juvenile-onset form of Paget disease, a disorder of the skeleton... (239000) more...

UniProtKB/Swiss-Prot:67 Paget disease of bone 5, juvenile-onset: An autosomal recessive, juvenile-onset form of Paget disease, a disorder of bone remodeling characterized by increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Osteoclastic overactivity followed by compensatory osteoblastic activity leads to a structurally disorganized mosaic of bone (woven bone), which is mechanically weaker, larger, less compact, more vascular, and more susceptible to fracture than normal adult lamellar bone. PDB5 clinical manifestations include short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness.

Related Diseases for Paget Disease of Bone 5, Juvenile-Onset

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Diseases related to Paget Disease of Bone 5, Juvenile-Onset via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1periodontitis 1, juvenile12.0
2paget's disease of bone11.5
3papillon-lefevre syndrome11.3
4haim-munk syndrome11.3
5pneumothorax10.6
6paget disease of bone 310.4
7obesity10.2
8glucagonoma10.2
9multiple endocrine neoplasia10.2
10blood coagulation disease10.1CALCA, TNFRSF11B
11dementia10.1CALCA, TNFRSF11B
12chronic rheumatic pericarditis10.0CALCA, TNFRSF11A
13lymphoma10.0
14adenocarcinoma10.0
15urachal adenocarcinoma10.0
16low tension glaucoma10.0CALCA, TNFRSF11B
17degenerative myopia10.0TNFRSF11B, TNFSF11
18intrahepatic biliary papillomatosis10.0TNFRSF11B, TNFSF11
19bone structure disease9.9TNFRSF11B, TNFSF11
20van buchem disease, type 29.9TNFRSF11B, TNFSF11
21ceroid lipofuscinosis, neuronal, 69.9TNFRSF11B, TNFSF11
22eosinophilic gastritis9.9TNFRSF11B, TNFSF11
23myeloid leukemia9.9TNFRSF11B, TNFSF11
24psoriasis susceptibility 19.9TNFRSF11B, TNFSF11
25glycoproteinosis9.9TNFRSF11B, TNFSF11
26central nervous system chondroma9.9TNFRSF11B, TNFSF11
27nephrocalcinosis9.8CALCA, TNFSF11
28accessory nerve disease9.8TNFRSF11B, TNFSF11
29meningeal melanomatosis9.8TNFRSF11B, TNFSF11
30ovarian insufficiency, familial9.7TNFRSF11A, TNFSF11
31leprosy 49.7TNFRSF11B, TNFSF11
32bone remodeling disease9.7TNFRSF11B, TNFSF11
33small cell cancer of the lung, somatic9.7TNFRSF11B, TNFSF11
34mucocele of appendix9.7CALCA, TNFRSF11B, TNFSF11
35collagenopathy, types ii and xi9.7CALCA, TNFRSF11B, TNFSF11
36acrodermatitis chronica atrophicans9.7CALCA, TNFRSF11B, TNFSF11
37foster-kennedy syndrome9.7CALCA, TNFRSF11B, TNFSF11
38chromosomal disease9.7CALCA, TNFRSF11B, TNFSF11
39bone development disease9.6CALCA, TNFRSF11B, TNFSF11
40hemorrhagic fever9.6TNFRSF11A, TNFRSF11B, TNFSF11
41paget disease of bone 2, early-onset9.6TNFRSF11A, TNFRSF11B, TNFSF11
42polycystic bone disease9.6TNFRSF11A, TNFRSF11B, TNFSF11
43mononeuritis of upper limb9.6TNFRSF11A, TNFRSF11B, TNFSF11
44atrial fibrillation, familial, 89.6CALCA, TNFRSF11A, TNFSF11
45osteochondritis dissecans9.6TNFRSF11B, TNFSF11
46otosalpingitis9.5CALCA, TNFRSF11A, TNFSF11
47rheumatoid arthritis9.5TNFRSF11A, TNFRSF11B, TNFSF11
48marcus gunn phenomenon9.3CALCA, TNFRSF11A, TNFRSF11B, TNFSF11
49chylomicron retention disease9.2CALCA, TNFRSF11A, TNFRSF11B, TNFSF11
50tibial hemimelia9.0CALCA, PDB5, TNFRSF11A, TNFRSF11B, TNFSF11

Graphical network of the top 20 diseases related to Paget Disease of Bone 5, Juvenile-Onset:



Diseases related to paget disease of bone 5, juvenile-onset

Symptoms for Paget Disease of Bone 5, Juvenile-Onset

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Symptoms by clinical synopsis from OMIM:

239000

Clinical features from OMIM:

239000

Symptoms:

 51 (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 of Bone 5, Juvenile-Onset:

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

Drugs & Therapeutics for Paget Disease of Bone 5, Juvenile-Onset

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Paget Disease of Bone 5, Juvenile-Onset

Genetic Tests for Paget Disease of Bone 5, Juvenile-Onset

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Genetic tests related to Paget Disease of Bone 5, Juvenile-Onset:

id Genetic test Affiliating Genes
1 Paget Disease, Juvenile22 TNFRSF11B

Anatomical Context for Paget Disease of Bone 5, Juvenile-Onset

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MalaCards organs/tissues related to Paget Disease of Bone 5, Juvenile-Onset:

33
Bone, Retina

Animal Models for Paget Disease of Bone 5, Juvenile-Onset or affiliated genes

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Publications for Paget Disease of Bone 5, Juvenile-Onset

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Variations for Paget Disease of Bone 5, Juvenile-Onset

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Clinvar genetic disease variations for Paget Disease of Bone 5, Juvenile-Onset:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TNFRSF11BTNFRSF11B, 245-KB DELdeletionPathogenic
2TNFRSF11BNM_002546.3(TNFRSF11B): c.226A> C (p.Thr76Pro)single nucleotide variantPathogenicrs200071478GRCh37Chr 8, 119945344: 119945344
3NC_000008.11: g.118920356_119017859deldeletionPathogenicGRCh38Chr 8, 118920356: 119017859
4TNFRSF11BNM_002546.3(TNFRSF11B): c.544_546delGAC (p.Asp182del)deletionPathogenicrs796051868GRCh37Chr 8, 119941023: 119941025
5TNFRSF11BNM_002546.3(TNFRSF11B): c.260G> A (p.Cys87Tyr)single nucleotide variantPathogenicrs104894091GRCh37Chr 8, 119945310: 119945310
6TNFRSF11BNM_002546.3(TNFRSF11B): c.349T> C (p.Phe117Leu)single nucleotide variantPathogenicrs104894092GRCh37Chr 8, 119945221: 119945221
7TNFRSF11BTNFRSF11B, 3-BP DEL AND 2-BP INSindelPathogenic

Expression for genes affiliated with Paget Disease of Bone 5, Juvenile-Onset

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Search GEO for disease gene expression data for Paget Disease of Bone 5, Juvenile-Onset.

Pathways for genes affiliated with Paget Disease of Bone 5, Juvenile-Onset

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Pathways related to Paget Disease of Bone 5, Juvenile-Onset according to GeneCards Suite gene sharing:

(show all 11)
idSuper pathwaysScoreTop Affiliating Genes
19.2TNFRSF11B, TNFSF11
2
Show member pathways
9.0TNFRSF11A, TNFSF11
39.0TNFRSF11A, TNFSF11
49.0TNFRSF11A, TNFSF11
5
Show member pathways
8.6TNFRSF11A, TNFRSF11B, TNFSF11
6
Show member pathways
8.6TNFRSF11A, TNFRSF11B, TNFSF11
7
Show member pathways
8.6TNFRSF11A, TNFRSF11B, TNFSF11
88.6TNFRSF11A, TNFRSF11B, TNFSF11
98.6TNFRSF11A, TNFRSF11B, TNFSF11
10
Show member pathways
8.6TNFRSF11A, TNFRSF11B, TNFSF11
118.1CALCA, TNFRSF11A, TNFRSF11B, TNFSF11

GO Terms for genes affiliated with Paget Disease of Bone 5, Juvenile-Onset

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Biological processes related to Paget Disease of Bone 5, Juvenile-Onset according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1apoptotic signaling pathwayGO:00971909.8TNFRSF11A, TNFRSF11B
2positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signalingGO:00718489.6TNFRSF11A, TNFSF11
3TNFSF11-mediated signaling pathwayGO:00718479.6TNFRSF11A, TNFSF11
4osteoclast differentiationGO:00303169.5TNFRSF11A, TNFSF11
5cell-cell signalingGO:00072679.5CALCA, TNFRSF11A
6response to lipopolysaccharideGO:00324969.4TNFRSF11A, TNFRSF11B
7ossificationGO:00015039.3TNFRSF11A, TNFSF11
8inflammatory responseGO:00069548.9CALCA, TNFRSF11A, TNFRSF11B
9monocyte chemotaxisGO:00025488.7CALCA, TNFRSF11A, TNFSF11

Sources for Paget Disease of Bone 5, Juvenile-Onset

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet