PDB5
MCID: PGT008
MIFTS: 47

Paget Disease of Bone 5, Juvenile-Onset (PDB5)

Categories: Bone diseases, Cancer diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare 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 56 52 73
Hyperostosis Corticalis Deformans Juvenilis 56 52 25 58 73
Juvenile Paget Disease 56 52 25 58 73
Hyperphosphatasemia with Bone Disease 25 29 6 71
Hereditary Hyperphosphatasia 52 58 73 71
Jpd 56 52 25 73
Hyperphosphatasia, Familial Idiopathic 56 52 25
Hyperphosphatasemia, Chronic Congenital Idiopathic 56 52
Paget Disease, Juvenile 13 54
Osteoectasia, Familial 56 73
Familial Osteoectasia 25 58
Pdb5 56 73
Jpg 52 58
Chronic Congenital Idiopathic Hyperphosphatasemia 25
Chronic Congenital Idiopathic Hyperphosphatasia 73
Paget Disease of Bone, Type 5, Juvenile-Onset 39
Hyperostosid Corticalis Deformans Juvenilis 52
Familial Idiopathic Hyperphosphatasemia 25
Osteoectasia with Hyperphosphatasia 25
Osteochalasia Desmalis Familiaris 25
Idiopathic Hyperphosphatasia 25
Juvenile Paget Disease; Jpd 56
Paget Disease Juvenile Type 52
Juvenile Paget's Disease 25
Juvenile Pagets Disease 52

Characteristics:

Orphanet epidemiological data:

58
juvenile paget disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
onset in first decade


HPO:

31
paget disease of bone 5, juvenile-onset:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity progressive


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Paget Disease of Bone 5, Juvenile-Onset

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). The signs of juvenile Paget disease appear in infancy or early childhood. As bones grow, they become progressively weaker and more deformed. These abnormalities usually become more severe during the adolescent growth spurt, when bones grow very quickly. Juvenile Paget disease 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 disease also affects bones of the spine (vertebrae). The deformed vertebrae can collapse, 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.

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 secondary hyperparathyroidism. 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 TNFR1 Pathway and TRAF Pathway. Affiliated tissues include bone, and related phenotypes are bowing of the long bones and macrocephaly

NIH Rare Diseases : 52 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.

OMIM : 56 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)

UniProtKB/Swiss-Prot : 73 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

Diseases in the Paget's Disease of Bone family:

Paget Disease of Bone 3 Paget Disease of Bone 5, Juvenile-Onset
Paget Disease of Bone 2, Early-Onset Paget Disease of Bone 4
Paget Disease of Bone 6

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 88)
# Related Disease Score Top Affiliating Genes
1 paget's disease of bone 30.3 TNFSF11 TNFRSF11B TNFRSF11A CALCA
2 secondary hyperparathyroidism 29.6 TNFRSF11B CALCA
3 endosteal hyperostosis, autosomal dominant 29.4 TNFSF11 TNFRSF11B
4 bone inflammation disease 29.3 TNFSF11 TNFRSF11B
5 bone resorption disease 29.1 TNFSF11 TNFRSF11B TNFRSF11A CALCA
6 familial expansile osteolysis 29.0 TNFSF11 TNFRSF11B TNFRSF11A
7 brittle bone disorder 28.9 TNFSF11 TNFRSF11B CALCA
8 hyperparathyroidism 28.9 TNFSF11 TNFRSF11B CALCA
9 mammary paget's disease 28.7 TNFSF11 TNFRSF11B TNFRSF11A CALCA
10 osteopetrosis 28.7 TNFSF11 TNFRSF11B TNFRSF11A CALCA
11 bone disease 28.6 TNFSF11 TNFRSF11B TNFRSF11A CALCA
12 fibrous dysplasia 28.5 TNFSF11 TNFRSF11B TNFRSF11A CALCA
13 periodontitis, aggressive, 1 11.5
14 hyperostosis 10.7
15 contact dermatitis 10.3
16 branchiootic syndrome 1 10.2
17 hypercalcemia, infantile, 1 10.0
18 mccune-albright syndrome 10.0
19 pseudoxanthoma elasticum 10.0
20 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
21 hydrocephalus 10.0
22 rare genetic bone disease 10.0
23 angioid streaks 9.9
24 autosomal recessive disease 9.9
25 aneurysm 9.9
26 periostitis 9.9 TNFRSF11B TNFRSF11A
27 frontotemporal dementia 9.9
28 yemenite deaf-blind hypopigmentation syndrome 9.9
29 paget disease of bone 2, early-onset 9.9
30 body mass index quantitative trait locus 1 9.9
31 hypophosphatemia 9.9
32 rickets 9.9
33 craniosynostosis 9.9
34 myopathy 9.9
35 carotid artery occlusion 9.9
36 measles 9.9
37 malignant ovarian brenner tumor 9.8 TNFSF11 CALCA
38 periodontitis, chronic 9.8 TNFSF11 TNFRSF11B
39 periodontitis 9.8 TNFSF11 TNFRSF11B
40 multicentric reticulohistiocytosis 9.8 TNFSF11 TNFRSF11B
41 gorham's disease 9.8 TNFSF11 CALCA
42 chronic apical periodontitis 9.8 TNFSF11 TNFRSF11B
43 kummell's disease 9.8 TNFSF11 TNFRSF11B
44 periapical periodontitis 9.8 TNFSF11 TNFRSF11B
45 poems syndrome 9.7 TNFSF11 TNFRSF11B
46 pigmented villonodular synovitis 9.7 TNFSF11 TNFRSF11B
47 synovitis 9.7 TNFSF11 TNFRSF11B
48 gingival disease 9.7 TNFSF11 TNFRSF11B
49 van buchem disease 9.7 TNFSF11 TNFRSF11B
50 sclerosteosis 9.7 TNFSF11 TNFRSF11B

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

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

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bowing of the long bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0006487
2 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
3 abnormality of the dentition 58 31 hallmark (90%) Very frequent (99-80%) HP:0000164
4 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
5 hyperuricemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002149
6 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000939
7 recurrent fractures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002757
8 abnormality of the clavicle 58 31 hallmark (90%) Very frequent (99-80%) HP:0000889
9 rough bone trabeculation 58 31 hallmark (90%) Very frequent (99-80%) HP:0100670
10 cranial hyperostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004437
11 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
12 pectus carinatum 58 31 frequent (33%) Frequent (79-30%) HP:0000768
13 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
14 abnormality of retinal pigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007703
15 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
16 subcutaneous nodule 58 31 occasional (7.5%) Occasional (29-5%) HP:0001482
17 melanocytic nevus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000995
18 retinopathy 31 occasional (7.5%) HP:0000488
19 motor delay 31 occasional (7.5%) HP:0001270
20 macular scar 31 occasional (7.5%) HP:0200056
21 kyphosis 31 HP:0002808
22 thickened calvaria 31 HP:0002684
23 sensorineural hearing impairment 31 HP:0000407
24 muscle weakness 31 HP:0001324
25 increased bone mineral density 31 HP:0011001
26 premature loss of teeth 31 HP:0006480
27 hyperphosphatemia 31 HP:0002905
28 barrel-shaped chest 31 HP:0001552
29 elevated alkaline phosphatase 31 HP:0003155
30 elevated serum acid phosphatase 31 HP:0003148
31 ankylosis 31 HP:0031013
32 hydroxyprolinuria 31 HP:0003080
33 hydroxyprolinemia 31 HP:0003260
34 angioid streaks of the fundus 31 HP:0001102

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
kyphosis
ankylosis

Growth Height:
short stature

Head And Neck Ears:
hearing loss, sensorineural

Chest External Features:
barrel chest

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

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

Skeletal:
osteoporosis
osteosclerosis
increased fractures
paget disease of bone
demineralization

Laboratory Abnormalities:
increased serum alkaline phosphatase

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

Skeletal Skull:
thickening of the skull
skull expansion

Clinical features from OMIM:

239000

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

45
# 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:

# Genetic test Affiliating Genes
1 Hyperphosphatasemia with Bone Disease 29 TNFRSF11B

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

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

40
Bone

Publications for Paget Disease of Bone 5, Juvenile-Onset

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

(show all 50)
# Title Authors PMID Year
1
Novel homozygous mutations in the osteoprotegerin gene TNFRSF11B in two unrelated patients with juvenile Paget's disease. 6 56
25108083 2014
2
Idiopathic hyperphosphatasia and TNFRSF11B mutations: relationships between phenotype and genotype. 6 56
14672344 2003
3
A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype. 56 6
12189164 2002
4
Osteoprotegerin deficiency and juvenile Paget's disease. 6 56
12124406 2002
5
Recombinant osteoprotegerin for juvenile Paget's disease. 56 54
16135836 2005
6
Juvenile Paget disease: life-long features of a mildly affected young woman. 56 61
8770706 1996
7
Absence of paramyxo virus transcripts in juvenile Paget bone disease. 56
8797127 1996
8
Hereditary hyperphosphatasia: 20 year follow-up and response to disodium etidronate. 56
8053403 1994
9
Chronic idiopathic hyperphosphatasia. Report of a case treated with pamidronate and a review of the literature. 56
1593590 1992
10
Familial hyperphosphatasemia: diagnosis in early infancy and response to human thyrocalcitonin therapy. 6
106682 1979
11
Chronic familial hyperphosphatasemia. 56
725042 1978
12
Familial idiopathic hyperphosphatasia: a study of two young siblings treated with porcine calcitonin. 56
562883 1977
13
Calcitonin treatment in hereditary bone dysplasia with hyperphosphatasemia: a radiographic and histologic study of bone. 56
409139 1977
14
Familial hyperphosphatasemia with ateliosis and hypermetabolism of growing membranous bone; review of the clinical, radiographic and chemical features. 56
4648260 1972
15
Hereditary hyperphosphatasia. Studies of three siblings. 56
4897184 1969
16
Congenital hyperphosphatasia. A clinical, pathological, and biochemical study of two cases. 56
5675396 1968
17
An histologic and histochemical study of familial osteoectasia. (Chronic idiopathic hyperphosphatasia). 56
4287038 1966
18
[OSTEOCHALASIA DESMALIS FAMILIARIS. (HYPEROSTOSIS CORTICALIS DEFORMANS JUVENILIS, CHRONIC IDIOPATHIC HYPERPHOSPHATASIA, OSTEOECTASIA AND MACROCRANIUM)]. 56
14229908 1964
19
FAMILIAL OSTEOECTASIA WITH MACROCRANIUM. 56
14123485 1964
20
[Hyperostosis corticalis deformans juvenilis: unfamiliar generalized osteopathy in 2 siblings]. 56
13610251 1958
21
Osteitis deformans (Paget's disease) in an 11 year old boy. 56
13548804 1958
22
Fragile bones and macrocranium. 56
13368018 1956
23
Bilateral cavernous internal carotid aneurysms in a child with juvenile paget disease and osteoprotegerin deficiency. 61 54
17947367 2008
24
Paget's disease of bone and genetic disorders of RANKL/OPG/RANK/NF-kappaB signaling. 54 61
16831914 2006
25
Off-label uses of denosumab in metabolic bone diseases. 61
31454537 2019
26
Blockade of the angiotensin II type 1 receptor increases bone mineral density and left ventricular contractility in a mouse model of juvenile Paget disease. 61
31271743 2019
27
Juvenile Paget disease. 61
29080812 2018
28
Auricular ossification: A newly recognized feature of osteoprotegerin-deficiency juvenile Paget disease. 61
26762549 2016
29
Unanticipated difficult intubation in a patient with juvenile Paget disease. 61
25962331 2015
30
Chronic idiopathic hyperphosphatasia with unusual dental findings - A case report. 61
24455042 2012
31
Genotype-phenotype correlation in juvenile Paget disease: role of molecular alterations of the TNFRSF11B gene. 61
22638612 2012
32
Bisphosphonate inhibits bone turnover in OPG(-/-) mice via a depressive effect on both osteoclasts and osteoblasts. 61
20549197 2010
33
Ocular manifestations of juvenile Paget disease. 61
20547946 2010
34
Bilateral giant cavernous carotid artery aneurysms in a child with juvenile Paget's disease. 61
20934158 2010
35
Case Report: Carotid-cavernous fistula due to aneurysmal rupture in a case of aortoaortitis with bilateral giant internal carotid artery aneurysms. 61
19881111 2009
36
Identification of sex-specific associations between polymorphisms of the osteoprotegerin gene, TNFRSF11B, and Paget's disease of bone. 54
17388729 2007
37
Juvenile Paget's disease: the second reported, oldest patient is homozygous for the TNFRSF11B "Balkan" mutation (966_969delTGACinsCTT), which elevates circulating immunoreactive osteoprotegerin levels. 54
17352649 2007
38
Sporadic hyperphosphatasia syndrome featuring periostitis and accelerated skeletal turnover without receptor activator of nuclear factor-kappaB, osteoprotegerin, or sequestosome-1 gene defects. 54
17284635 2007
39
RANK ligand. 54
17174136 2007
40
A newly recognized polyosteolysis/hyperostosis syndrome. 61
17001672 2006
41
[Role of OPG in regulation of bone remodeling]. 54
16951469 2006
42
Deletion of aspartate 182 in OPG causes juvenile Paget's disease by impairing both protein secretion and binding to RANKL. 54
16491292 2006
43
[Bone remodeling and mineral homeostasis]. 54
16397350 2006
44
Metabolic bone disease in children : etiology and treatment options. 61
17002489 2006
45
Susceptibility to Paget's disease of bone is influenced by a common polymorphic variant of osteoprotegerin. 54
15312251 2004
46
Chronic idiopathic hyperphosphatasia: normalization of bone turnover with cyclical intravenous pamidronate therapy. 61
15207759 2004
47
Loss of chaotic trabecular structure in OPG-deficient juvenile Paget's disease patients indicates a chaogenic role for OPG in nonlinear pattern formation of trabecular bone. 54
15068491 2004
48
Osteoprotegerin deficiency and juvenile Paget's disease. 54
12432053 2002
49
Calcitonin treatment in osteoectasia with hyperphosphatasia (juvenile Paget's disease): radiographic changes after treatment. 54
10552064 1999
50
Chronic idiopathic hyperphosphatasemia. Case report. 61
8361732 1993

Variations for Paget Disease of Bone 5, Juvenile-Onset

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

6 (show top 50) (show all 64) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TNFRSF11B NM_002546.4(TNFRSF11B):c.997C>T (p.Arg333Ter)SNV Pathogenic 802437 8:119936822-119936822 8:118924583-118924583
2 TNFRSF11B nsv513786deletion Pathogenic 6968 8:119932595-120030098 8:118920356-119017859
3 TNFRSF11B NM_002546.4(TNFRSF11B):c.544_546del (p.Asp182del)deletion Pathogenic 6969 rs796051868 8:119941023-119941025 8:118928784-118928786
4 TNFRSF11B NM_002546.4(TNFRSF11B):c.260G>A (p.Cys87Tyr)SNV Pathogenic 6970 rs104894091 8:119945310-119945310 8:118933071-118933071
5 TNFRSF11B NM_002546.4(TNFRSF11B):c.349T>C (p.Phe117Leu)SNV Pathogenic 6971 rs104894092 8:119945221-119945221 8:118932982-118932982
6 TNFRSF11B TNFRSF11B, 3-BP DEL AND 2-BP INSindel Pathogenic 6972
7 TNFRSF11B TNFRSF11B, 245-KB DELdeletion Pathogenic 208808
8 TNFRSF11B NM_002546.4(TNFRSF11B):c.226A>C (p.Thr76Pro)SNV Pathogenic 208809 rs200071478 8:119945344-119945344 8:118933105-118933105
9 TNFRSF11B NM_002546.4(TNFRSF11B):c.840C>T (p.Ser280=)SNV Conflicting interpretations of pathogenicity 759904 8:119936979-119936979 8:118924740-118924740
10 TNFRSF11B NM_002546.4(TNFRSF11B):c.234C>T (p.Asp78=)SNV Conflicting interpretations of pathogenicity 361694 rs144654126 8:119945336-119945336 8:118933097-118933097
11 TNFRSF11B NM_002546.4(TNFRSF11B):c.699C>A (p.Asn233Lys)SNV Uncertain significance 361691 rs150457771 8:119938851-119938851 8:118926612-118926612
12 TNFRSF11B NM_002546.3(TNFRSF11B):c.-215C>TSNV Uncertain significance 361701 rs886062649 8:119964275-119964275 8:118952036-118952036
13 TNFRSF11B NM_002546.3(TNFRSF11B):c.-284C>TSNV Uncertain significance 361704 rs11575929 8:119964344-119964344 8:118952105-118952105
14 TNFRSF11B NM_002546.3(TNFRSF11B):c.-311G>TSNV Uncertain significance 361705 rs779000439 8:119964371-119964371 8:118952132-118952132
15 TNFRSF11B NM_002546.4(TNFRSF11B):c.*682T>CSNV Uncertain significance 361682 rs189721016 8:119935931-119935931 8:118923692-118923692
16 TNFRSF11B NM_002546.3(TNFRSF11B):c.-257G>TSNV Uncertain significance 361703 rs368831724 8:119964317-119964317 8:118952078-118952078
17 TNFRSF11B NM_002546.4(TNFRSF11B):c.400+5G>ASNV Uncertain significance 361693 rs372860364 8:119945165-119945165 8:118932926-118932926
18 TNFRSF11B NM_002546.4(TNFRSF11B):c.*67C>TSNV Uncertain significance 361687 rs11573944 8:119936546-119936546 8:118924307-118924307
19 TNFRSF11B NM_002546.4(TNFRSF11B):c.700G>A (p.Ala234Thr)SNV Uncertain significance 361690 rs201393730 8:119938850-119938850 8:118926611-118926611
20 TNFRSF11B NM_002546.4(TNFRSF11B):c.400+15G>ASNV Uncertain significance 361692 rs757467378 8:119945155-119945155 8:118932916-118932916
21 TNFRSF11B NM_002546.3(TNFRSF11B):c.-99G>ASNV Uncertain significance 361698 rs886062647 8:119964159-119964159 8:118951920-118951920
22 TNFRSF11B NM_002546.3(TNFRSF11B):c.-191C>GSNV Uncertain significance 361699 rs886062648 8:119964251-119964251 8:118952012-118952012
23 TNFRSF11B NM_002546.3(TNFRSF11B):c.-204C>TSNV Uncertain significance 361700 rs570347828 8:119964264-119964264 8:118952025-118952025
24 TNFRSF11B NM_002546.4(TNFRSF11B):c.96C>T (p.Asp32=)SNV Uncertain significance 281427 rs4876870 8:119945474-119945474 8:118933235-118933235
25 TNFRSF11B NM_002546.4(TNFRSF11B):c.729A>T (p.Gln243His)SNV Uncertain significance 285282 rs374594601 8:119938821-119938821 8:118926582-118926582
26 TNFRSF11B NM_002546.4(TNFRSF11B):c.*207C>GSNV Uncertain significance 361686 rs886062646 8:119936406-119936406 8:118924167-118924167
27 TNFRSF11B NM_002546.4(TNFRSF11B):c.884T>C (p.Leu295Pro)SNV Uncertain significance 816653 8:119936935-119936935 8:118924696-118924696
28 TNFRSF11B NM_002546.4(TNFRSF11B):c.*799G>ASNV Uncertain significance 908146 8:119935814-119935814 8:118923575-118923575
29 TNFRSF11B NM_002546.4(TNFRSF11B):c.*609G>ASNV Uncertain significance 910101 8:119936004-119936004 8:118923765-118923765
30 TNFRSF11B NM_002546.4(TNFRSF11B):c.*505A>GSNV Uncertain significance 910102 8:119936108-119936108 8:118923869-118923869
31 TNFRSF11B NM_002546.4(TNFRSF11B):c.*487T>CSNV Uncertain significance 910103 8:119936126-119936126 8:118923887-118923887
32 TNFRSF11B NM_002546.4(TNFRSF11B):c.*463T>ASNV Uncertain significance 910104 8:119936150-119936150 8:118923911-118923911
33 TNFRSF11B NM_002546.4(TNFRSF11B):c.*412A>GSNV Uncertain significance 910105 8:119936201-119936201 8:118923962-118923962
34 TNFRSF11B NM_002546.4(TNFRSF11B):c.*349T>ASNV Uncertain significance 910993 8:119936264-119936264 8:118924025-118924025
35 TNFRSF11B NM_002546.4(TNFRSF11B):c.*213C>TSNV Uncertain significance 910994 8:119936400-119936400 8:118924161-118924161
36 TNFRSF11B NM_002546.4(TNFRSF11B):c.*166C>GSNV Uncertain significance 910995 8:119936447-119936447 8:118924208-118924208
37 TNFRSF11B NM_002546.4(TNFRSF11B):c.853A>G (p.Ile285Val)SNV Uncertain significance 912224 8:119936966-119936966 8:118924727-118924727
38 TNFRSF11B NM_002546.4(TNFRSF11B):c.841G>T (p.Val281Leu)SNV Uncertain significance 912225 8:119936978-119936978 8:118924739-118924739
39 TNFRSF11B NM_002546.4(TNFRSF11B):c.720A>G (p.Ile240Met)SNV Uncertain significance 912226 8:119938830-119938830 8:118926591-118926591
40 TNFRSF11B NM_002546.4(TNFRSF11B):c.621C>T (p.Phe207=)SNV Uncertain significance 908220 8:119938929-119938929 8:118926690-118926690
41 TNFRSF11B NM_002546.4(TNFRSF11B):c.332G>A (p.Arg111His)SNV Uncertain significance 910163 8:119945238-119945238 8:118932999-118932999
42 TNFRSF11B NM_002546.4(TNFRSF11B):c.308G>A (p.Arg103His)SNV Uncertain significance 910164 8:119945262-119945262 8:118933023-118933023
43 TNFRSF11B NM_002546.4(TNFRSF11B):c.277G>A (p.Val93Ile)SNV Uncertain significance 910165 8:119945293-119945293 8:118933054-118933054
44 TNFRSF11B NM_002546.4(TNFRSF11B):c.139G>A (p.Gly47Ser)SNV Uncertain significance 910166 8:119945431-119945431 8:118933192-118933192
45 TNFRSF11B NM_002546.4(TNFRSF11B):c.104C>A (p.Thr35Asn)SNV Uncertain significance 911049 8:119945466-119945466 8:118933227-118933227
46 TNFRSF11B NM_002546.4(TNFRSF11B):c.-10G>ASNV Uncertain significance 911050 8:119964070-119964070 8:118951831-118951831
47 TNFRSF11B NM_002546.4(TNFRSF11B):c.*545T>CSNV Likely benign 361684 rs11573947 8:119936068-119936068 8:118923829-118923829
48 TNFRSF11B NM_002546.4(TNFRSF11B):c.885T>A (p.Leu295=)SNV Benign/Likely benign 197745 rs11573942 8:119936934-119936934 8:118924695-118924695
49 TNFRSF11B NM_002546.4(TNFRSF11B):c.21C>T (p.Cys7=)SNV Benign/Likely benign 361697 rs373330021 8:119964040-119964040 8:118951801-118951801
50 TNFRSF11B NM_002546.3(TNFRSF11B):c.-223C>TSNV Benign 361702 rs2073617 8:119964283-119964283 8:118952044-118952044

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)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.55 TNFSF11 TNFRSF11B TNFRSF11A
2
Show member pathways
12.11 TNFSF11 TNFRSF11B TNFRSF11A
3
Show member pathways
11.94 TNFSF11 TNFRSF11B TNFRSF11A
4 11.78 TNFSF11 TNFRSF11A
5 11.54 TNFSF11 TNFRSF11B TNFRSF11A
6 11.49 TNFSF11 TNFRSF11A
7 11.43 TNFSF11 TNFRSF11A
8
Show member pathways
11.3 TNFSF11 TNFRSF11A
9
Show member pathways
11.25 TNFSF11 TNFRSF11B TNFRSF11A
10 10.58 TNFSF11 TNFRSF11B TNFRSF11A CALCA
11 10.47 TNFSF11 TNFRSF11B
12 10.34 TNFSF11 TNFRSF11B TNFRSF11A

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 12)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.51 TNFSF11 TNFRSF11A
2 tumor necrosis factor-mediated signaling pathway GO:0033209 9.5 TNFSF11 TNFRSF11B TNFRSF11A
3 positive regulation of DNA-binding transcription factor activity GO:0051091 9.49 TNFSF11 TNFRSF11A
4 ossification GO:0001503 9.48 TNFSF11 TNFRSF11A
5 osteoclast differentiation GO:0030316 9.46 TNFSF11 TNFRSF11A
6 positive regulation of bone resorption GO:0045780 9.43 TNFSF11 TNFRSF11A
7 mammary gland alveolus development GO:0060749 9.4 TNFSF11 TNFRSF11A
8 negative regulation of bone resorption GO:0045779 9.37 TNFRSF11B CALCA
9 TNFSF11-mediated signaling pathway GO:0071847 9.26 TNFSF11 TNFRSF11A
10 positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling GO:0071848 9.16 TNFSF11 TNFRSF11A
11 positive regulation of fever generation by positive regulation of prostaglandin secretion GO:0071812 8.96 TNFSF11 TNFRSF11A
12 monocyte chemotaxis GO:0002548 8.8 TNFSF11 TNFRSF11A CALCA

Sources for Paget Disease of Bone 5, Juvenile-Onset

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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