MCID: PGT008
MIFTS: 43

Paget Disease of Bone 5, Juvenile-Onset

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

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

MalaCards integrated aliases for Paget Disease of Bone 5, Juvenile-Onset:

Name: Paget Disease of Bone 5, Juvenile-Onset 54 50 71
Hyperostosis Corticalis Deformans Juvenilis 50 25 56 71
Hereditary Hyperphosphatasia 50 56 71 69
Juvenile Paget Disease 50 25 56 71
Hyperphosphatasemia with Bone Disease 25 29 69
Jpd 50 25 71
Hyperphosphatasia, Familial Idiopathic 50 25
Juvenile Paget's Disease 25 56
Paget Disease, Juvenile 13 52
Familial Osteoectasia 25 56
Jpg 50 56
Hyperphosphatasemia, Chronic Congenital Idiopathic 50
Chronic Congenital Idiopathic Hyperphosphatasemia 25
Chronic Congenital Idiopathic Hyperphosphatasia 71
Hyperostosid Corticalis Deformans Juvenilis 50
Familial Idiopathic Hyperphosphatasemia 25
Osteoectasia with Hyperphosphatasia 25
Osteochalasia Desmalis Familiaris 25
Idiopathic Hyperphosphatasia 25
Paget Disease Juvenile Type 50
Juvenile Pagets Disease 50
Osteoectasia, Familial 71
Pdb5 71

Characteristics:

Orphanet epidemiological data:

56
juvenile paget disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
onset in first decade


HPO:

32
paget disease of bone 5, juvenile-onset:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Paget Disease of Bone 5, Juvenile-Onset

NIH Rare Diseases : 50 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 short stature, optic atrophy and osteoporosis. An important gene associated with Paget Disease of Bone 5, Juvenile-Onset is TNFRSF11B (TNF Receptor Superfamily Member 11b), and among its related pathways/superpathways are Development Endothelin-1/EDNRA signaling and TRAF Pathway. Affiliated tissues include bone and retina, and related phenotype is limbs/digits/tail.

UniProtKB/Swiss-Prot : 71 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.

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 : 54
Paget disease of bone-5 is an autosomal recessive, juvenile-onset form of Paget disease, a disorder of the skeleton resulting from abnormal bone resorption and formation. Clinical manifestations include short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness. There is phenotypic variability, with some patients presenting in infancy, while others present later in childhood (summary by Naot et al., 2014). For discussion of genetic heterogeneity of Paget disease of bone, see 167250. (239000)

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

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

(show all 48)
id Related Disease Score Top Affiliating Genes
1 paget's disease of bone 11.0
2 paget disease of bone 5, juvenile 10.9
3 periodontitis 1, juvenile 10.8
4 hypochondrogenesis 10.2 CALCA TNFRSF11B
5 pes anserinus tendinitis or bursitis 10.2 CALCA TNFRSF11B
6 tinea unguium 10.1 CALCA TNFRSF11B
7 carotenemia 10.1 TNFRSF11A TNFRSF11B
8 atrial heart septal defect 10.1 CALCA TNFRSF11A
9 subserous uterine fibroid 9.9 CALCA TNFRSF11B
10 cortical blindness 9.9 TNFRSF11B TNFSF11
11 peripheral scars of retina 9.9 TNFRSF11B TNFSF11
12 van buchem disease, type 2 9.8 TNFRSF11B TNFSF11
13 ovarian insufficiency, familial 9.8 TNFRSF11B TNFSF11
14 psoriasis susceptibility 1 9.8 TNFRSF11B TNFSF11
15 neuropathy 9.8 TNFRSF11B TNFSF11
16 larynx leiomyosarcoma 9.8 TNFRSF11A TNFSF11
17 mesenchymal cell neoplasm 9.8 TNFRSF11B TNFSF11
18 bacterial gastritis 9.8 TNFRSF11B TNFSF11
19 craniosynostosis 7 9.7 TNFRSF11B TNFSF11
20 synovium cancer 9.7 TNFRSF11B TNFSF11
21 aneurysm 9.7
22 vulva fibroepithelial polyp 9.7 TNFRSF11B TNFSF11
23 intrahepatic cholestasis 9.7 TNFRSF11A TNFSF11
24 glossopharyngeal nerve paralysis 9.7 TNFRSF11B TNFSF11
25 pancreas adenocarcinoma 9.5 TNFRSF11A TNFSF11
26 leprosy 4 9.5 TNFRSF11B TNFSF11
27 cpt deficiency, hepatic, type ia 9.5 TNFRSF11B TNFSF11
28 small cell cancer of the lung, somatic 9.4 TNFRSF11B TNFSF11
29 bacillary angiomatosis 9.4 CALCA TNFRSF11B TNFSF11
30 polyembryoma 9.3 TNFRSF11A TNFRSF11B TNFSF11
31 paget disease of bone 2, early-onset 9.3 TNFRSF11A TNFRSF11B TNFSF11
32 hennekam van der horst syndrome 9.3 TNFRSF11A TNFRSF11B TNFSF11
33 spinocerebellar ataxia 4 9.3 TNFRSF11A TNFRSF11B TNFSF11
34 metaphyseal anadysplasia 2 9.3 TNFRSF11A TNFRSF11B TNFSF11
35 atrial fibrillation, familial, 8 9.3 CALCA TNFRSF11A TNFSF11
36 lower clivus meningioma 9.3 TNFRSF11A TNFRSF11B TNFSF11
37 bronchus cancer 9.3 TNFRSF11A TNFRSF11B TNFSF11
38 bone resorption disease 9.3 TNFRSF11A TNFRSF11B TNFSF11
39 inappropriate adh syndrome 9.3 TNFRSF11A TNFRSF11B TNFSF11
40 osteochondrosis 9.2 TNFRSF11B TNFSF11
41 rheumatoid arthritis 9.2 TNFRSF11A TNFRSF11B TNFSF11
42 tibial hemimelia 8.8 CALCA TNFRSF11A TNFRSF11B TNFSF11
43 glossitis 8.8 CALCA TNFRSF11A TNFRSF11B TNFSF11
44 physical disorder 8.8 CALCA TNFRSF11A TNFRSF11B TNFSF11
45 bone deterioration disease 8.8 CALCA TNFRSF11A TNFRSF11B TNFSF11
46 preretinal fibrosis 8.8 CALCA TNFRSF11A TNFRSF11B TNFSF11
47 schizoaffective disorder 8.8 CALCA TNFRSF11A TNFRSF11B TNFSF11
48 chylomicron retention disease 8.7 CALCA 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

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Skeletal- Spine:
kyphosis
ankylosis

Head And Neck- Ears:
hearing loss, sensorineural

Head And Neck- Eyes:
retinopathy (in some patients)
angioid streaks (in some patients)
macular scarring (in some patients)

Skeletal- Skull:
thickening of the skull
skull expansion

Neurologic- Central Nervous System:
delayed motor development (in some patients)

Skeletal:
osteosclerosis
osteoporosis
paget disease of bone
demineralization
increased fractures

Laboratory- Abnormalities:
increased serum alkaline phosphatase

Chest- External Features:
barrel chest

Skeletal- Limbs:
bowing of the long bones
deformities of the long bones


Clinical features from OMIM:

239000

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

56 32 (show all 35)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 optic atrophy 56 32 frequent (33%) Frequent (79-30%) HP:0000648
3 osteoporosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000939
4 pectus carinatum 56 32 frequent (33%) Frequent (79-30%) HP:0000768
5 macrocephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000256
6 recurrent fractures 56 32 hallmark (90%) Very frequent (99-80%) HP:0002757
7 hypertension 56 32 frequent (33%) Frequent (79-30%) HP:0000822
8 hyperuricemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002149
9 hearing impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000365
10 cranial hyperostosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0004437
11 bowing of the long bones 56 32 hallmark (90%) Very frequent (99-80%) HP:0006487
12 abnormality of retinal pigmentation 56 32 frequent (33%) Frequent (79-30%) HP:0007703
13 subcutaneous nodule 56 32 occasional (7.5%) Occasional (29-5%) HP:0001482
14 melanocytic nevus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000995
15 abnormality of the clavicle 56 32 hallmark (90%) Very frequent (99-80%) HP:0000889
16 rough bone trabeculation 56 32 hallmark (90%) Very frequent (99-80%) HP:0100670
17 kyphosis 32 HP:0002808
18 retinal degeneration 32 occasional (7.5%) HP:0000546
19 muscle weakness 32 HP:0001324
20 motor delay 32 occasional (7.5%) HP:0001270
21 hyperphosphatemia 32 HP:0002905
22 barrel-shaped chest 32 HP:0001552
23 sensorineural hearing impairment 32 HP:0000407
24 retinopathy 32 occasional (7.5%) HP:0000488
25 hydroxyprolinuria 32 HP:0003080
26 premature loss of teeth 32 HP:0006480
27 elevated alkaline phosphatase 32 HP:0003155
28 elevated serum acid phosphatase 32 HP:0003148
29 angioid streaks of the retina 32 HP:0001102
30 increased bone mineral density 32 HP:0011001
31 thickened calvaria 32 HP:0002684
32 abnormality of the teeth 56 Very frequent (99-80%)
33 abnormality of the dentition 32 hallmark (90%) HP:0000164
34 macular scar 32 occasional (7.5%) HP:0200056
35 hydroxyprolinemia 32 HP:0003260

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.8 TNFRSF11A TNFRSF11B TNFSF11

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

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

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

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

id Genetic test Affiliating Genes
1 Hyperphosphatasemia with Bone Disease 29

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

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

39
Bone, Retina

Publications for Paget Disease of Bone 5, Juvenile-Onset

Variations for Paget Disease of Bone 5, Juvenile-Onset

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 TNFRSF11B NC_000008.11: g.118920356_119017859del97504 deletion Pathogenic GRCh38 Chromosome 8, 118920356: 119017859
2 TNFRSF11B NM_002546.3(TNFRSF11B): c.544_546delGAC (p.Asp182del) deletion Pathogenic rs796051868 GRCh37 Chromosome 8, 119941023: 119941025
3 TNFRSF11B NM_002546.3(TNFRSF11B): c.260G> A (p.Cys87Tyr) single nucleotide variant Pathogenic rs104894091 GRCh37 Chromosome 8, 119945310: 119945310
4 TNFRSF11B NM_002546.3(TNFRSF11B): c.349T> C (p.Phe117Leu) single nucleotide variant Pathogenic rs104894092 GRCh37 Chromosome 8, 119945221: 119945221
5 TNFRSF11B TNFRSF11B, 3-BP DEL AND 2-BP INS indel Pathogenic
6 TNFRSF11B TNFRSF11B, 245-KB DEL deletion Pathogenic
7 TNFRSF11B NM_002546.3(TNFRSF11B): c.226A> C (p.Thr76Pro) single nucleotide variant Pathogenic rs200071478 GRCh37 Chromosome 8, 119945344: 119945344

Expression for Paget Disease of Bone 5, Juvenile-Onset

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

Pathways for Paget Disease of Bone 5, Juvenile-Onset

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

(show all 12)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.26 TNFRSF11A TNFRSF11B TNFSF11
2
Show member pathways
12.14 TNFRSF11A TNFRSF11B TNFSF11
3
Show member pathways
11.94 TNFRSF11A TNFRSF11B TNFSF11
4 11.77 TNFRSF11A TNFSF11
5 11.54 TNFRSF11A TNFRSF11B TNFSF11
6 11.47 TNFRSF11A TNFSF11
7 11.43 TNFRSF11A TNFSF11
8
Show member pathways
11.32 TNFRSF11A TNFSF11
9
Show member pathways
11.26 TNFRSF11A TNFRSF11B TNFSF11
10 10.58 CALCA TNFRSF11A TNFRSF11B TNFSF11
11 10.47 TNFRSF11B TNFSF11
12 10.34 TNFRSF11A TNFRSF11B TNFSF11

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

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

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.63 CALCA TNFRSF11A TNFRSF11B
2 response to lipopolysaccharide GO:0032496 9.54 TNFRSF11A TNFRSF11B
3 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.52 TNFRSF11A TNFSF11
4 positive regulation of sequence-specific DNA binding transcription factor activity GO:0051091 9.51 TNFRSF11A TNFSF11
5 tumor necrosis factor-mediated signaling pathway GO:0033209 9.5 TNFRSF11A TNFRSF11B TNFSF11
6 ossification GO:0001503 9.49 TNFRSF11A TNFSF11
7 apoptotic signaling pathway GO:0097190 9.48 TNFRSF11A TNFRSF11B
8 osteoclast differentiation GO:0030316 9.43 TNFRSF11A TNFSF11
9 mammary gland alveolus development GO:0060749 9.4 TNFRSF11A TNFSF11
10 negative regulation of bone resorption GO:0045779 9.37 CALCA TNFRSF11B
11 TNFSF11-mediated signaling pathway GO:0071847 9.26 TNFRSF11A TNFSF11
12 positive regulation of fever generation by positive regulation of prostaglandin secretion GO:0071812 9.16 TNFRSF11A TNFSF11
13 positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling GO:0071848 8.96 TNFRSF11A TNFSF11
14 monocyte chemotaxis GO:0002548 8.8 CALCA TNFRSF11A TNFSF11

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

id Name GO ID Score Top Affiliating Genes
1 tumor necrosis factor-activated receptor activity GO:0005031 8.62 TNFRSF11A TNFRSF11B

Sources for Paget Disease of Bone 5, Juvenile-Onset

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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