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 50 46 68
Hereditary Hyperphosphatasia 46 52 68 66
Juvenile Paget Disease 46 24 52 68
Hyperostosis Corticalis Deformans Juvenilis 46 24 68
Hyperphosphatasemia with Bone Disease 24 25 66
Jpd 46 24 68
Hyperostosid Corticalis Deformans Juvenilis 46 52
Hyperphosphatasia, Familial Idiopathic 46 24
Juvenile Paget's Disease 24 52
Paget Disease, Juvenile 12 48
Familial Osteoectasia 24 52
Jpg 46 52
 
Hyperphosphatasemia, Chronic Congenital Idiopathic 46
Chronic Congenital Idiopathic Hyperphosphatasemia 24
Chronic Congenital Idiopathic Hyperphosphatasia 68
Familial Idiopathic Hyperphosphatasemia 24
Osteoectasia with Hyperphosphatasia 24
Osteochalasia Desmalis Familiaris 24
Idiopathic Hyperphosphatasia 24
Paget Disease Juvenile Type 46
Periodontitis, Juvenile 66
Juvenile Pagets Disease 46
Osteoectasia, Familial 68
Pdb5 68

Characteristics:

Orphanet epidemiological data:

52
hereditary hyperphosphatasia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy

HPO:

62
paget disease of bone 5, juvenile-onset:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 239000
Orphanet52 ORPHA2801
ICD10 via Orphanet29 M88.0, M88.8, M88.9
MedGen35 C0268414
MeSH37 D010001

Summaries for Paget Disease of Bone 5, Juvenile-Onset

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NIH Rare Diseases:46 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 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 Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway. Affiliated tissues include bone and retina.

Genetics Home Reference:24 Juvenile Paget disease is a disorder that affects bone growth. This disease causes bones to be abnormally large, misshapen, and easily broken (fractured).

OMIM:50 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:68 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 43)
idRelated DiseaseScoreTop Affiliating Genes
1periodontitis 1, juvenile11.5
2paget's disease of bone11.1
3paget disease of bone 5, juvenile11.0
4papillon-lefevre syndrome10.9
5haim-munk syndrome10.9
6toxoplasmosis10.1TNFRSF11A, TNFRSF11B
7interval angle-closure glaucoma10.0CALCA, TNFRSF11B
8hypercalcemia9.9
9myopia9.9TNFRSF11B, TNFSF11
10solar retinopathy9.9TNFRSF11B, TNFSF11
11van buchem disease, type 29.8TNFRSF11B, TNFSF11
12subacute monocytic leukemia9.8TNFRSF11B, TNFSF11
13impotence9.8CALCA, TNFSF11
14eosinophilic gastroenteritis9.8TNFRSF11B, TNFSF11
15aneurysm9.8
16psoriasis susceptibility 19.8TNFRSF11B, TNFSF11
17scrotal carcinoma9.8CALCA, TNFSF11
18xanthomatosis9.8TNFRSF11B, TNFSF11
19pseudobulbar palsy9.7CALCA, TNFSF11
20palmoplantar keratosis9.6TNFRSF11B, TNFSF11
21small cell cancer of the lung, somatic9.6TNFRSF11B, TNFSF11
22pancreas adenocarcinoma9.6TNFRSF11A, TNFSF11
23chronic rhinitis9.5TNFRSF11B, 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
29juvenile retinoschisis9.4TNFRSF11A, TNFRSF11B, TNFSF11
30inflammatory liposarcoma9.3TNFRSF11A, TNFRSF11B, TNFSF11
31pneumatosis cystoides intestinalis9.3TNFRSF11A, TNFRSF11B, TNFSF11
32bone resorption disease9.3TNFRSF11A, TNFRSF11B, TNFSF11
33cannabis dependence9.3TNFRSF11A, TNFRSF11B, TNFSF11
34leprosy 49.3TNFRSF11B, TNFSF11
35chromosome 16q22 deletion syndrome9.3CALCA, TNFRSF11A, TNFSF11
36rheumatoid arthritis9.0TNFRSF11A, 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
41chylomicron retention disease8.8CALCA, TNFRSF11A, TNFRSF11B, TNFSF11
42tibial hemimelia8.4CALCA, PDB5, TNFRSF11A, TNFRSF11B, TNFSF11
43lung occult small cell carcinoma8.4CALCA, 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:

 52 (show all 17)
  • abnormality of the teeth
  • macrocephaly
  • hearing impairment
  • optic atrophy
  • pectus carinatum
  • hypertension
  • abnormality of the clavicle
  • osteoporosis
  • melanocytic nevus
  • subcutaneous nodule
  • hyperuricemia
  • recurrent fractures
  • short stature
  • cranial hyperostosis
  • bowing of the long bones
  • abnormal retinal pigmentation
  • rough bone trabeculation

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

(show all 30)
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 clavicle 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 abnormality of retinal pigmentation typical (50%) HP:0007703
16 melanocytic nevus occasional (7.5%) HP:0000995
17 macrocephaly HP:0000256
18 retinal degeneration HP:0000546
19 osteoporosis HP:0000939
20 angioid streaks of the retina HP:0001102
21 muscle weakness HP:0001324
22 hyperuricemia HP:0002149
23 thickened calvaria HP:0002684
24 hyperphosphatemia HP:0002905
25 hydroxyprolinuria HP:0003080
26 elevated serum acid phosphatase HP:0003148
27 hydroxyprolinemia HP:0003260
28 short stature HP:0004322
29 premature loss of teeth HP:0006480
30 bowing of the long bones HP:0006487

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 Disease25

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:

34
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_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)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 13)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of bone resorptionGO:004577910.0CALCA, 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
5osteoclast differentiationGO:00303169.3TNFRSF11A, TNFSF11
6mammary gland alveolus developmentGO:00607499.2TNFRSF11A, TNFSF11
7positive regulation of NF-kappaB transcription factor activityGO:00510929.1TNFRSF11A, TNFSF11
8apoptotic signaling pathwayGO:00971909.1TNFRSF11A, TNFRSF11B
9positive regulation of sequence-specific DNA binding transcription factor activityGO:00510919.1TNFRSF11A, TNFSF11
10tumor necrosis factor-mediated signaling pathwayGO:00332099.0TNFRSF11A, TNFRSF11B, TNFSF11
11ossificationGO:00015039.0TNFRSF11A, TNFSF11
12monocyte chemotaxisGO:00025488.9CALCA, TNFRSF11A, TNFSF11
13inflammatory responseGO:00069548.9CALCA, 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:00050319.4TNFRSF11A, TNFRSF11B

Sources for Paget Disease of Bone 5, Juvenile-Onset

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet