PDB5
MCID: PGT008
MIFTS: 42

Paget Disease of Bone 5, Juvenile-Onset (PDB5) 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 52 48 70
Hyperostosis Corticalis Deformans Juvenilis 48 25 54 70
Hereditary Hyperphosphatasia 48 54 70 68
Juvenile Paget Disease 48 25 54 70
Hyperphosphatasemia with Bone Disease 25 27 68
Jpd 48 25 70
Hyperphosphatasia, Familial Idiopathic 48 25
Juvenile Paget's Disease 25 54
Paget Disease, Juvenile 12 50
Familial Osteoectasia 25 54
Jpg 48 54
Hyperphosphatasemia, Chronic Congenital Idiopathic 48
 
Chronic Congenital Idiopathic Hyperphosphatasemia 25
Chronic Congenital Idiopathic Hyperphosphatasia 70
Hyperostosid Corticalis Deformans Juvenilis 48
Familial Idiopathic Hyperphosphatasemia 25
Osteoectasia with Hyperphosphatasia 25
Osteochalasia Desmalis Familiaris 25
Idiopathic Hyperphosphatasia 25
Paget Disease Juvenile Type 48
Juvenile Pagets Disease 48
Osteoectasia, Familial 70
Pdb5 70

Characteristics:

Orphanet epidemiological data:

54
hyperostosis corticalis deformans juvenilis:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy

HPO:

64
paget disease of bone 5, juvenile-onset:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 239000
Orphanet54 ORPHA2801
ICD10 via Orphanet31 M88.0, M88.8, M88.9
MedGen37 C0268414
MeSH39 D010001

Summaries for Paget Disease of Bone 5, Juvenile-Onset

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NIH Rare Diseases:48 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 hyperostosis corticalis deformans juvenilis, is related to paget's disease of bone and paget disease of bone 5, juvenile, and has symptoms including Array, Array and Array. An important gene associated with Paget Disease of Bone 5, Juvenile-Onset is TNFRSF11B (TNF 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, and related mouse phenotypes are craniofacial and limbs/digits/tail.

Genetics Home Reference:25 Juvenile Paget disease is a disorder that affects bone growth. This disease causes bones to be abnormally large, misshapen, and easily broken (fractured).

OMIM:52 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:70 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 all 50)
idRelated DiseaseScoreTop Affiliating Genes
1paget's disease of bone11.1
2paget disease of bone 5, juvenile10.9
3paget disease of bone 310.8
4periodontitis 1, juvenile10.8
5stickler syndrome10.1CALCA, TNFRSF11B
6pes anserinus tendinitis or bursitis10.1CALCA, TNFRSF11B
7tinea unguium10.1CALCA, TNFRSF11B
8cocaine dependence10.0TNFRSF11A, TNFRSF11B
9atrial heart septal defect10.0CALCA, TNFRSF11A
10subserous uterine fibroid10.0CALCA, TNFRSF11B
11cortical blindness10.0TNFRSF11B, TNFSF11
12peripheral scars of retina10.0TNFRSF11B, TNFSF11
13exudative vitreoretinopathy 410.0TNFRSF11B, TNFSF11
14post-traumatic stress disorder10.0TNFRSF11B, TNFSF11
15celiac disease9.9TNFRSF11B, TNFSF11
16vascular dementia9.9TNFRSF11B, TNFSF11
17extrahepatic bile duct leiomyosarcoma9.9TNFRSF11A, TNFSF11
18ceroid lipofuscinosis, neuronal, kufs type, adult onset9.9TNFRSF11B, TNFSF11
19fungal gastritis9.9TNFRSF11B, TNFSF11
20synovium cancer9.9TNFRSF11B, TNFSF11
21cranial nerve palsy9.9TNFRSF11B, TNFSF11
22pancreatic ductal adenocarcinoma9.9TNFRSF11A, TNFSF11
23bone angioendothelial sarcoma9.9TNFRSF11B, TNFSF11
24molybdenum cofactor deficiency a9.8TNFRSF11B, TNFSF11
25osteonecrosis9.8TNFRSF11B, TNFSF11
26intratubular embryonal carcinoma9.8TNFRSF11B, TNFSF11
27acrorenal syndrome9.8CALCA, TNFRSF11B, TNFSF11
28osteopetrosis, autosomal recessive 79.8TNFRSF11A, TNFRSF11B, TNFSF11
29hepatic fibrosis renal cysts mental retardation9.8TNFRSF11A, TNFRSF11B, TNFSF11
30epilepsy, idiopathic generalized 149.8TNFRSF11A, TNFRSF11B, TNFSF11
31polyomavirus allograft nephropathy9.8TNFRSF11A, TNFRSF11B, TNFSF11
32microcephaly 10, primary, autosomal recessive9.8TNFRSF11A, TNFRSF11B, TNFSF11
33bronchus cancer9.7TNFRSF11A, TNFRSF11B, TNFSF11
34bulbomembranous urethral cancer9.7TNFRSF11A, TNFRSF11B, TNFSF11
35chromosome 16q22 deletion syndrome9.7CALCA, TNFRSF11A, TNFSF11
36chromosomal disease9.7TNFRSF11A, TNFRSF11B, TNFSF11
37intrahepatic cholestasis9.7TNFRSF11A, TNFRSF11B, TNFSF11
38histiocytosis9.7TNFRSF11A, TNFRSF11B, TNFSF11
39hypotrichosis 89.7TNFRSF11B, TNFSF11
40rheumatoid arthritis9.7TNFRSF11A, TNFRSF11B, TNFSF11
41aneurysm9.7
42phka2-related phosphorylase kinase deficiency9.6CALCA, TNFRSF11A, TNFRSF11B, TNFSF11
43birk-barel mental retardation dysmorphism syndrome9.6CALCA, TNFRSF11A, TNFRSF11B, TNFSF11
44maroteaux stanescu cousin syndrome9.6CALCA, TNFRSF11A, TNFRSF11B, TNFSF11
45glossitis9.6CALCA, TNFRSF11A, TNFRSF11B, TNFSF11
46dysbaric osteonecrosis9.6CALCA, TNFRSF11A, TNFRSF11B, TNFSF11
47ischemic bone disease9.6CALCA, TNFRSF11A, TNFRSF11B, TNFSF11
48preretinal fibrosis9.6CALCA, TNFRSF11A, TNFRSF11B, TNFSF11
49bladder papillary transitional cell neoplasm9.6CALCA, TNFRSF11A, TNFRSF11B, TNFSF11
50carnitine deficiency, systemic primary9.5CALCA, 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 & Phenotypes for Paget Disease of Bone 5, Juvenile-Onset

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Symptoms by clinical synopsis from OMIM:

239000

Clinical features from OMIM:

239000

Human phenotypes related to Paget Disease of Bone 5, Juvenile-Onset:

 54 64 (show all 34)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the teeth64 54 Very frequent (99-80%) HP:0000164
2 macrocephaly64 54 Very frequent (99-80%) HP:0000256
3 hearing impairment64 54 Frequent (79-30%) HP:0000365
4 optic atrophy64 54 Frequent (79-30%) HP:0000648
5 pectus carinatum64 54 Frequent (79-30%) HP:0000768
6 hypertension64 54 Frequent (79-30%) HP:0000822
7 abnormality of the clavicle64 54 Very frequent (99-80%) HP:0000889
8 osteoporosis64 54 Very frequent (99-80%) HP:0000939
9 melanocytic nevus64 54 Occasional (29-5%) HP:0000995
10 subcutaneous nodule64 54 Occasional (29-5%) HP:0001482
11 hyperuricemia64 54 Very frequent (99-80%) HP:0002149
12 recurrent fractures64 54 Very frequent (99-80%) HP:0002757
13 short stature64 54 Very frequent (99-80%) HP:0004322
14 cranial hyperostosis64 54 Very frequent (99-80%) HP:0004437
15 bowing of the long bones64 54 Very frequent (99-80%) HP:0006487
16 abnormality of retinal pigmentation64 54 Frequent (79-30%) HP:0007703
17 rough bone trabeculation64 54 Very frequent (99-80%) HP:0100670
18 sensorineural hearing impairment64 HP:0000407
19 retinopathy64 HP:0000488
20 retinal degeneration64 HP:0000546
21 angioid streaks of the retina64 HP:0001102
22 motor delay64 HP:0001270
23 muscle weakness64 HP:0001324
24 barrel-shaped chest64 HP:0001552
25 thickened calvaria64 HP:0002684
26 kyphosis64 HP:0002808
27 hyperphosphatemia64 HP:0002905
28 hydroxyprolinuria64 HP:0003080
29 elevated serum acid phosphatase64 HP:0003148
30 elevated alkaline phosphatase64 HP:0003155
31 hydroxyprolinemia64 HP:0003260
32 premature loss of teeth64 HP:0006480
33 increased bone mineral density64 HP:0011001
34 macular scar64 HP:0200056

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.2TNFRSF11A, TNFRSF11B, TNFSF11
2MP:00053718.5TNFRSF11A, TNFRSF11B, TNFSF11

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 Hyperphosphatasemia with Bone Disease27

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:

36
Bone, Retina

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)SNVPathogenicrs200071478GRCh37Chr 8, 119945344: 119945344
3TNFRSF11BNC_ 000008.11: g.118920356_ 119017859del97504deletionPathogenicGRCh38Chr 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)SNVPathogenicrs104894091GRCh37Chr 8, 119945310: 119945310
6TNFRSF11BNM_ 002546.3(TNFRSF11B): c.349T> C (p.Phe117Leu)SNVPathogenicrs104894092GRCh37Chr 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 12)
idSuper pathwaysScoreTop Affiliating Genes
19.1TNFRSF11B, TNFSF11
2
Show member pathways
9.0TNFRSF11A, TNFSF11
39.0TNFRSF11A, TNFSF11
49.0TNFRSF11A, TNFSF11
59.0TNFRSF11A, TNFSF11
6
Show member pathways
8.5TNFRSF11A, TNFRSF11B, TNFSF11
7
Show member pathways
8.5TNFRSF11A, TNFRSF11B, TNFSF11
88.5TNFRSF11A, TNFRSF11B, TNFSF11
9
Show member pathways
8.5TNFRSF11A, TNFRSF11B, TNFSF11
108.5TNFRSF11A, TNFRSF11B, TNFSF11
11
Show member pathways
8.5TNFRSF11A, TNFRSF11B, TNFSF11
128.0CALCA, 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 13)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of bone resorptionGO:004577910.1CALCA, TNFRSF11B
2apoptotic signaling pathwayGO:009719010.0TNFRSF11A, TNFRSF11B
3mammary gland alveolus developmentGO:00607499.7TNFRSF11A, TNFSF11
4ossificationGO:00015039.7TNFRSF11A, TNFSF11
5osteoclast differentiationGO:00303169.7TNFRSF11A, TNFSF11
6positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signalingGO:00718489.7TNFRSF11A, TNFSF11
7positive regulation of fever generation by positive regulation of prostaglandin secretionGO:00718129.7TNFRSF11A, TNFSF11
8positive regulation of NF-kappaB transcription factor activityGO:00510929.6TNFRSF11A, TNFSF11
9positive regulation of sequence-specific DNA binding transcription factor activityGO:00510919.6TNFRSF11A, TNFSF11
10TNFSF11-mediated signaling pathwayGO:00718479.6TNFRSF11A, TNFSF11
11inflammatory responseGO:00069549.5CALCA, TNFRSF11A, TNFRSF11B
12monocyte chemotaxisGO:00025489.2CALCA, TNFRSF11A, TNFSF11
13tumor necrosis factor-mediated signaling pathwayGO:00332098.5TNFRSF11A, TNFRSF11B, TNFSF11

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

idNameGO IDScoreTop Affiliating Genes
1tumor necrosis factor-activated receptor activityGO:00050319.3TNFRSF11A, TNFRSF11B

Sources for Paget Disease of Bone 5, Juvenile-Onset

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet