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 51 47 69
Hyperostosis Corticalis Deformans Juvenilis 47 25 53 69
Hereditary Hyperphosphatasia 47 53 69 67
Juvenile Paget Disease 47 25 53 69
Hyperphosphatasemia with Bone Disease 25 26 67
Jpd 47 25 69
Hyperphosphatasia, Familial Idiopathic 47 25
Juvenile Paget's Disease 25 53
Paget Disease, Juvenile 12 49
Familial Osteoectasia 25 53
Jpg 47 53
Hyperphosphatasemia, Chronic Congenital Idiopathic 47
 
Chronic Congenital Idiopathic Hyperphosphatasemia 25
Chronic Congenital Idiopathic Hyperphosphatasia 69
Hyperostosid Corticalis Deformans Juvenilis 47
Familial Idiopathic Hyperphosphatasemia 25
Osteoectasia with Hyperphosphatasia 25
Osteochalasia Desmalis Familiaris 25
Idiopathic Hyperphosphatasia 25
Paget Disease Juvenile Type 47
Juvenile Pagets Disease 47
Periodontitis, Juvenile 67
Osteoectasia, Familial 69
Pdb5 69

Characteristics:

Orphanet epidemiological data:

53
hyperostosis corticalis deformans juvenilis:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy

HPO:

63
paget disease of bone 5, juvenile-onset:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 239000
Orphanet53 ORPHA2801
ICD10 via Orphanet30 M88.0, M88.8, M88.9
MedGen36 C0268414
MeSH38 D010001

Summaries for Paget Disease of Bone 5, Juvenile-Onset

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NIH Rare Diseases:47 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 abnormality of the teeth, macrocephaly and abnormality of the clavicle. 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 Rheumatoid arthritis. 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:51 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:69 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 42)
idRelated DiseaseScoreTop Affiliating Genes
1paget's disease of bone11.0
2paget disease of bone 5, juvenile10.9
3paget disease of bone 310.8
4periodontitis 1, juvenile10.8
5toxoplasmosis10.0TNFRSF11A, TNFRSF11B
6interval angle-closure glaucoma9.9CALCA, TNFRSF11B
7impotence9.8CALCA, TNFSF11
8myopia9.8TNFRSF11B, TNFSF11
9solar retinopathy9.8TNFRSF11B, TNFSF11
10scrotal carcinoma9.8CALCA, TNFSF11
11van buchem disease, type 29.8TNFRSF11B, TNFSF11
12subacute monocytic leukemia9.8TNFRSF11B, TNFSF11
13eosinophilic gastroenteritis9.8TNFRSF11B, TNFSF11
14psoriasis susceptibility 19.8TNFRSF11B, TNFSF11
15xanthomatosis9.8TNFRSF11B, TNFSF11
16pseudobulbar palsy9.7CALCA, TNFSF11
17aneurysm9.7
18palmoplantar keratosis9.6TNFRSF11B, TNFSF11
19pancreas adenocarcinoma9.6TNFRSF11A, TNFSF11
20chronic rhinitis9.6TNFRSF11B, TNFSF11
21leprosy 49.6TNFRSF11B, TNFSF11
22small cell cancer of the lung, somatic9.5TNFRSF11B, TNFSF11
23atherosclerosis9.5TNFRSF11A, TNFSF11
24bacillary angiomatosis9.4CALCA, TNFRSF11B, TNFSF11
25acquired hyperkeratosis9.4CALCA, TNFRSF11B, TNFSF11
26brain stem angioblastoma9.4CALCA, TNFRSF11B, TNFSF11
27osteopetrosis, autosomal recessive 79.4TNFRSF11A, TNFRSF11B, TNFSF11
28hemorrhagic shock and encephalopathy syndrome9.4TNFRSF11A, TNFRSF11B, TNFSF11
29inflammatory liposarcoma9.3TNFRSF11A, TNFRSF11B, TNFSF11
30chromosome 16q22 deletion syndrome9.3CALCA, TNFRSF11A, TNFSF11
31pneumatosis cystoides intestinalis9.3TNFRSF11A, TNFRSF11B, TNFSF11
32bone resorption disease9.3TNFRSF11A, TNFRSF11B, TNFSF11
33cannabis dependence9.3TNFRSF11A, TNFRSF11B, TNFSF11
34cpt deficiency, hepatic, type ia9.3TNFRSF11B, TNFSF11
35rheumatoid arthritis9.2TNFRSF11A, TNFRSF11B, TNFSF11
36tibial hemimelia8.9CALCA, TNFRSF11A, TNFRSF11B, TNFSF11
37anaerobic meningitis8.9CALCA, TNFRSF11A, TNFRSF11B, TNFSF11
38physical disorder8.9CALCA, TNFRSF11A, TNFRSF11B, TNFSF11
39bone deterioration disease8.9CALCA, TNFRSF11A, TNFRSF11B, TNFSF11
40neuroma8.9CALCA, TNFRSF11A, TNFRSF11B, TNFSF11
41lung occult small cell carcinoma8.9CALCA, TNFRSF11A, TNFRSF11B, TNFSF11
42chylomicron retention disease8.9CALCA, 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

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

 63 53 (show all 28)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the teeth63 53 hallmark (90%) Very frequent (99-80%) HP:0000164
2 macrocephaly63 53 hallmark (90%) Very frequent (99-80%) HP:0000256
3 abnormality of the clavicle63 53 hallmark (90%) Very frequent (99-80%) HP:0000889
4 hyperuricemia63 53 hallmark (90%) Very frequent (99-80%) HP:0002149
5 recurrent fractures63 53 hallmark (90%) Very frequent (99-80%) HP:0002757
6 short stature63 53 hallmark (90%) Very frequent (99-80%) HP:0004322
7 reduced bone mineral density63 hallmark (90%) HP:0004349
8 craniofacial hyperostosis63 hallmark (90%) HP:0004493
9 bowing of the long bones63 53 hallmark (90%) Very frequent (99-80%) HP:0006487
10 rough bone trabeculation63 53 hallmark (90%) Very frequent (99-80%) HP:0100670
11 hearing impairment63 53 typical (50%) Frequent (79-30%) HP:0000365
12 optic atrophy63 53 typical (50%) Frequent (79-30%) HP:0000648
13 pectus carinatum63 53 typical (50%) Frequent (79-30%) HP:0000768
14 hypertension63 53 typical (50%) Frequent (79-30%) HP:0000822
15 abnormality of retinal pigmentation63 53 typical (50%) Frequent (79-30%) HP:0007703
16 melanocytic nevus63 53 occasional (7.5%) Occasional (29-5%) HP:0000995
17 retinal degeneration63 HP:0000546
18 osteoporosis63 53 Very frequent (99-80%) HP:0000939
19 angioid streaks of the retina63 HP:0001102
20 muscle weakness63 HP:0001324
21 thickened calvaria63 HP:0002684
22 hyperphosphatemia63 HP:0002905
23 hydroxyprolinuria63 HP:0003080
24 elevated serum acid phosphatase63 HP:0003148
25 hydroxyprolinemia63 HP:0003260
26 premature loss of teeth63 HP:0006480
27 subcutaneous nodule53 Occasional (29-5%)
28 cranial hyperostosis53 Very frequent (99-80%)

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 Disease26

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:

35
Bone, Retina

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

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MGI Mouse Phenotypes related to Paget Disease of Bone 5, Juvenile-Onset:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.2TNFRSF11A, TNFRSF11B, TNFSF11
2MP:00053718.5TNFRSF11A, TNFRSF11B, TNFSF11

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 DELdeletionPathogenicChr na, -1: -1
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 INSindelPathogenicChr na, -1: -1

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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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 14)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of bone resorptionGO:00457799.8CALCA, TNFRSF11B
2positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signalingGO:00718489.7TNFRSF11A, TNFSF11
3positive regulation of fever generation by positive regulation of prostaglandin secretionGO:00718129.7TNFRSF11A, TNFSF11
4TNFSF11-mediated signaling pathwayGO:00718479.5TNFRSF11A, TNFSF11
5mammary gland alveolus developmentGO:00607499.3TNFRSF11A, TNFSF11
6apoptotic signaling pathwayGO:00971909.3TNFRSF11A, TNFRSF11B
7positive regulation of NF-kappaB transcription factor activityGO:00510929.3TNFRSF11A, TNFSF11
8osteoclast differentiationGO:00303169.3TNFRSF11A, TNFSF11
9positive regulation of sequence-specific DNA binding transcription factor activityGO:00510919.3TNFRSF11A, TNFSF11
10regulation of apoptotic processGO:00429819.0TNFRSF11A, TNFRSF11B
11tumor necrosis factor-mediated signaling pathwayGO:00332099.0TNFRSF11A, TNFRSF11B, TNFSF11
12monocyte chemotaxisGO:00025489.0CALCA, TNFRSF11A, TNFSF11
13ossificationGO:00015038.9TNFRSF11A, TNFSF11
14inflammatory responseGO:00069548.8CALCA, TNFRSF11A, TNFRSF11B

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:00050319.8TNFRSF11A, TNFRSF11B
2receptor activityGO:00048729.3TNFRSF11A, TNFRSF11B
3cytokine activityGO:00051258.8TNFRSF11B, TNFSF11

Sources for Paget Disease of Bone 5, Juvenile-Onset

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet