PDB5
MCID: PGT008
MIFTS: 46

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

Categories: Bone diseases, Cancer diseases, Cardiovascular 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 57 20 72
Hyperostosis Corticalis Deformans Juvenilis 57 20 43 58 72
Juvenile Paget Disease 57 20 43 58 72
Hyperphosphatasemia with Bone Disease 43 29 6 70
Hereditary Hyperphosphatasia 20 58 72 70
Jpd 57 20 43 72
Hyperphosphatasia, Familial Idiopathic 57 20 43
Hyperphosphatasemia, Chronic Congenital Idiopathic 57 20
Paget Disease, Juvenile 13 54
Osteoectasia, Familial 57 72
Familial Osteoectasia 43 58
Pdb5 57 72
Jpg 20 58
Chronic Congenital Idiopathic Hyperphosphatasemia 43
Chronic Congenital Idiopathic Hyperphosphatasia 72
Paget Disease of Bone, Type 5, Juvenile-Onset 39
Hyperostosid Corticalis Deformans Juvenilis 20
Familial Idiopathic Hyperphosphatasemia 43
Osteoectasia with Hyperphosphatasia 43
Osteochalasia Desmalis Familiaris 43
Idiopathic Hyperphosphatasia 43
Juvenile Paget Disease; Jpd 57
Paget Disease Juvenile Type 20
Juvenile Paget's Disease 43
Juvenile Pagets Disease 20

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®:

57 (Updated 05-Apr-2021)
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

MedlinePlus Genetics : 43 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 macrocephaly and bowing of the long bones

GARD : 20 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® : 57 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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 78)
# Related Disease Score Top Affiliating Genes
1 paget's disease of bone 30.3 TNFSF11 TNFRSF11B TNFRSF11A CALCA
2 secondary hyperparathyroidism 29.8 TNFRSF11B CALCA
3 familial expansile osteolysis 29.4 TNFSF11 TNFRSF11B TNFRSF11A
4 bone resorption disease 29.4 TNFSF11 TNFRSF11B TNFRSF11A CALCA
5 hyperparathyroidism 29.2 TNFSF11 TNFRSF11B CALCA
6 fibrous dysplasia 29.2 TNFSF11 TNFRSF11A CALCA
7 bone disease 29.0 TNFSF11 TNFRSF11B TNFRSF11A CALCA
8 mammary paget's disease 29.0 TNFSF11 TNFRSF11B TNFRSF11A CALCA
9 osteopetrosis 29.0 TNFSF11 TNFRSF11B TNFRSF11A CALCA
10 brittle bone disorder 28.8 TNFSF11 TNFRSF11B TNFRSF11A CALCA
11 periodontitis, aggressive, 1 11.2
12 hyperostosis 10.5
13 branchiootic syndrome 1 10.1
14 contact dermatitis 10.0
15 arterial calcification, generalized, of infancy, 1 10.0
16 angioid streaks 10.0
17 autosomal recessive disease 10.0
18 aneurysm 10.0
19 mccune-albright syndrome 9.9
20 pseudoxanthoma elasticum 9.9
21 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
22 hydrocephalus 9.9
23 rare genetic bone disease 9.9
24 hypercalcemia, infantile, 1 9.9
25 bone inflammation disease 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 hypophosphatemia 9.9
31 rickets 9.9
32 craniosynostosis 9.9
33 myopathy 9.9
34 carotid artery occlusion 9.9
35 measles 9.9
36 otosclerosis 9.9 TNFRSF11B CALCA
37 malignant ovarian brenner tumor 9.8 TNFSF11 CALCA
38 periodontitis, chronic 9.8 TNFSF11 TNFRSF11B
39 kummell's disease 9.8 TNFSF11 CALCA
40 multicentric reticulohistiocytosis 9.8 TNFSF11 TNFRSF11B
41 gorham's disease 9.8 TNFSF11 CALCA
42 chronic apical periodontitis 9.8 TNFSF11 TNFRSF11B
43 bone benign neoplasm 9.8 TNFSF11 CALCA
44 osteoporosis, juvenile 9.8 TNFSF11 CALCA
45 parathyroid gland disease 9.8 TNFSF11 CALCA
46 cherubism 9.8 TNFSF11 CALCA
47 mineral metabolism disease 9.8 TNFSF11 CALCA
48 ankylosis 9.8 TNFSF11 TNFRSF11B
49 osteonecrosis 9.8 TNFSF11 TNFRSF11B
50 osteopetrosis, autosomal recessive 7 9.8 TNFSF11 TNFRSF11A

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 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 bowing of the long bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0006487
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 cranial hyperostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004437
9 abnormal clavicle morphology 31 hallmark (90%) HP:0000889
10 coarse metaphyseal trabecularization 31 hallmark (90%) HP:0100670
11 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
12 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
13 pectus carinatum 58 31 frequent (33%) Frequent (79-30%) HP:0000768
14 optic atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000648
15 abnormality of retinal pigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007703
16 melanocytic nevus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000995
17 subcutaneous nodule 58 31 occasional (7.5%) Occasional (29-5%) HP:0001482
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 muscle weakness 31 HP:0001324
23 thickened calvaria 31 HP:0002684
24 sensorineural hearing impairment 31 HP:0000407
25 increased bone mineral density 31 HP:0011001
26 abnormality of the clavicle 58 Very frequent (99-80%)
27 rough bone trabeculation 58 Very frequent (99-80%)
28 premature loss of teeth 31 HP:0006480
29 hyperphosphatemia 31 HP:0002905
30 angioid streaks of the fundus 31 HP:0001102
31 barrel-shaped chest 31 HP:0001552
32 elevated alkaline phosphatase 31 HP:0003155
33 elevated serum acid phosphatase 31 HP:0003148
34 ankylosis 31 HP:0031013
35 hydroxyprolinuria 31 HP:0003080
36 hydroxyprolinemia 31 HP:0003260

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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 57
25108083 2014
2
Idiopathic hyperphosphatasia and TNFRSF11B mutations: relationships between phenotype and genotype. 57 6
14672344 2003
3
A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype. 6 57
12189164 2002
4
Osteoprotegerin deficiency and juvenile Paget's disease. 57 6
12124406 2002
5
Recombinant osteoprotegerin for juvenile Paget's disease. 57 54
16135836 2005
6
Juvenile Paget disease: life-long features of a mildly affected young woman. 61 57
8770706 1996
7
Absence of paramyxo virus transcripts in juvenile Paget bone disease. 57
8797127 1996
8
Hereditary hyperphosphatasia: 20 year follow-up and response to disodium etidronate. 57
8053403 1994
9
Chronic idiopathic hyperphosphatasia. Report of a case treated with pamidronate and a review of the literature. 57
1593590 1992
10
Familial hyperphosphatasemia: diagnosis in early infancy and response to human thyrocalcitonin therapy. 6
106682 1979
11
Chronic familial hyperphosphatasemia. 57
725042 1978
12
Familial idiopathic hyperphosphatasia: a study of two young siblings treated with porcine calcitonin. 57
562883 1977
13
Calcitonin treatment in hereditary bone dysplasia with hyperphosphatasemia: a radiographic and histologic study of bone. 57
409139 1977
14
Familial hyperphosphatasemia with ateliosis and hypermetabolism of growing membranous bone; review of the clinical, radiographic and chemical features. 57
4648260 1972
15
Hereditary hyperphosphatasia. Studies of three siblings. 57
4897184 1969
16
Congenital hyperphosphatasia. A clinical, pathological, and biochemical study of two cases. 57
5675396 1968
17
An histologic and histochemical study of familial osteoectasia. (Chronic idiopathic hyperphosphatasia). 57
4287038 1966
18
[OSTEOCHALASIA DESMALIS FAMILIARIS. (HYPEROSTOSIS CORTICALIS DEFORMANS JUVENILIS, CHRONIC IDIOPATHIC HYPERPHOSPHATASIA, OSTEOECTASIA AND MACROCRANIUM)]. 57
14229908 1964
19
FAMILIAL OSTEOECTASIA WITH MACROCRANIUM. 57
14123485 1964
20
[Hyperostosis corticalis deformans juvenilis: unfamiliar generalized osteopathy in 2 siblings]. 57
13610251 1958
21
Osteitis deformans (Paget's disease) in an 11 year old boy. 57
13548804 1958
22
Fragile bones and macrocranium. 57
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. 61 54
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 Position
1 TNFRSF11B NM_002546.4(TNFRSF11B):c.544_546del (p.Asp182del) Deletion Pathogenic 6969 rs796051868 GRCh37: 8:119941023-119941025
GRCh38: 8:118928784-118928786
2 TNFRSF11B NM_002546.4(TNFRSF11B):c.260G>A (p.Cys87Tyr) SNV Pathogenic 6970 rs104894091 GRCh37: 8:119945310-119945310
GRCh38: 8:118933071-118933071
3 TNFRSF11B NM_002546.4(TNFRSF11B):c.349T>C (p.Phe117Leu) SNV Pathogenic 6971 rs104894092 GRCh37: 8:119945221-119945221
GRCh38: 8:118932982-118932982
4 TNFRSF11B TNFRSF11B, 3-BP DEL AND 2-BP INS Indel Pathogenic 6972 GRCh37:
GRCh38:
5 TNFRSF11B TNFRSF11B, 245-KB DEL Deletion Pathogenic 208808 GRCh37:
GRCh38:
6 TNFRSF11B NM_002546.4(TNFRSF11B):c.226A>C (p.Thr76Pro) SNV Pathogenic 208809 rs200071478 GRCh37: 8:119945344-119945344
GRCh38: 8:118933105-118933105
7 TNFRSF11B NM_002546.4(TNFRSF11B):c.997C>T (p.Arg333Ter) SNV Pathogenic 802437 rs1307942060 GRCh37: 8:119936822-119936822
GRCh38: 8:118924583-118924583
8 overlap with 2 genes nsv513786 Deletion Pathogenic 6968 GRCh37: 8:119932595-120030098
GRCh38: 8:118920356-119017859
9 TNFRSF11B NM_002546.4(TNFRSF11B):c.884T>C (p.Leu295Pro) SNV Uncertain significance 816653 rs1586952570 GRCh37: 8:119936935-119936935
GRCh38: 8:118924696-118924696
10 TNFRSF11B NM_002546.4(TNFRSF11B):c.234C>T (p.Asp78=) SNV Uncertain significance 361694 rs144654126 GRCh37: 8:119945336-119945336
GRCh38: 8:118933097-118933097
11 TNFRSF11B NM_002546.4(TNFRSF11B):c.96C>T (p.Asp32=) SNV Uncertain significance 281427 rs4876870 GRCh37: 8:119945474-119945474
GRCh38: 8:118933235-118933235
12 TNFRSF11B NM_002546.4(TNFRSF11B):c.729A>T (p.Gln243His) SNV Uncertain significance 285282 rs374594601 GRCh37: 8:119938821-119938821
GRCh38: 8:118926582-118926582
13 TNFRSF11B NM_002546.4(TNFRSF11B):c.840C>T (p.Ser280=) SNV Uncertain significance 759904 rs143414212 GRCh37: 8:119936979-119936979
GRCh38: 8:118924740-118924740
14 TNFRSF11B NM_002546.3(TNFRSF11B):c.-257G>T SNV Uncertain significance 361703 rs368831724 GRCh37: 8:119964317-119964317
GRCh38: 8:118952078-118952078
15 TNFRSF11B NM_002546.3(TNFRSF11B):c.-204C>T SNV Uncertain significance 361700 rs570347828 GRCh37: 8:119964264-119964264
GRCh38: 8:118952025-118952025
16 TNFRSF11B NM_002546.3(TNFRSF11B):c.-99G>A SNV Uncertain significance 361698 rs886062647 GRCh37: 8:119964159-119964159
GRCh38: 8:118951920-118951920
17 TNFRSF11B NM_002546.3(TNFRSF11B):c.-284C>T SNV Uncertain significance 361704 rs11575929 GRCh37: 8:119964344-119964344
GRCh38: 8:118952105-118952105
18 TNFRSF11B NM_002546.3(TNFRSF11B):c.-215C>T SNV Uncertain significance 361701 rs886062649 GRCh37: 8:119964275-119964275
GRCh38: 8:118952036-118952036
19 TNFRSF11B NM_002546.3(TNFRSF11B):c.-191C>G SNV Uncertain significance 361699 rs886062648 GRCh37: 8:119964251-119964251
GRCh38: 8:118952012-118952012
20 TNFRSF11B NM_002546.3(TNFRSF11B):c.-311G>T SNV Uncertain significance 361705 rs779000439 GRCh37: 8:119964371-119964371
GRCh38: 8:118952132-118952132
21 TNFRSF11B NM_002546.4(TNFRSF11B):c.*682T>C SNV Uncertain significance 361682 rs189721016 GRCh37: 8:119935931-119935931
GRCh38: 8:118923692-118923692
22 TNFRSF11B NM_002546.4(TNFRSF11B):c.699C>A (p.Asn233Lys) SNV Uncertain significance 361691 rs150457771 GRCh37: 8:119938851-119938851
GRCh38: 8:118926612-118926612
23 TNFRSF11B NM_002546.4(TNFRSF11B):c.*67C>T SNV Uncertain significance 361687 rs11573944 GRCh37: 8:119936546-119936546
GRCh38: 8:118924307-118924307
24 TNFRSF11B NM_002546.4(TNFRSF11B):c.700G>A (p.Ala234Thr) SNV Uncertain significance 361690 rs201393730 GRCh37: 8:119938850-119938850
GRCh38: 8:118926611-118926611
25 TNFRSF11B NM_002546.4(TNFRSF11B):c.400+15G>A SNV Uncertain significance 361692 rs757467378 GRCh37: 8:119945155-119945155
GRCh38: 8:118932916-118932916
26 TNFRSF11B NM_002546.4(TNFRSF11B):c.400+5G>A SNV Uncertain significance 361693 rs372860364 GRCh37: 8:119945165-119945165
GRCh38: 8:118932926-118932926
27 TNFRSF11B NM_002546.4(TNFRSF11B):c.*207C>G SNV Uncertain significance 361686 rs886062646 GRCh37: 8:119936406-119936406
GRCh38: 8:118924167-118924167
28 TNFRSF11B NM_002546.4(TNFRSF11B):c.*799G>A SNV Uncertain significance 908146 GRCh37: 8:119935814-119935814
GRCh38: 8:118923575-118923575
29 TNFRSF11B NM_002546.4(TNFRSF11B):c.621C>T (p.Phe207=) SNV Uncertain significance 908220 GRCh37: 8:119938929-119938929
GRCh38: 8:118926690-118926690
30 TNFRSF11B NM_002546.4(TNFRSF11B):c.*609G>A SNV Uncertain significance 910101 GRCh37: 8:119936004-119936004
GRCh38: 8:118923765-118923765
31 TNFRSF11B NM_002546.4(TNFRSF11B):c.*505A>G SNV Uncertain significance 910102 GRCh37: 8:119936108-119936108
GRCh38: 8:118923869-118923869
32 TNFRSF11B NM_002546.4(TNFRSF11B):c.*487T>C SNV Uncertain significance 910103 GRCh37: 8:119936126-119936126
GRCh38: 8:118923887-118923887
33 TNFRSF11B NM_002546.4(TNFRSF11B):c.*463T>A SNV Uncertain significance 910104 GRCh37: 8:119936150-119936150
GRCh38: 8:118923911-118923911
34 TNFRSF11B NM_002546.4(TNFRSF11B):c.*412A>G SNV Uncertain significance 910105 GRCh37: 8:119936201-119936201
GRCh38: 8:118923962-118923962
35 TNFRSF11B NM_002546.4(TNFRSF11B):c.332G>A (p.Arg111His) SNV Uncertain significance 910163 GRCh37: 8:119945238-119945238
GRCh38: 8:118932999-118932999
36 TNFRSF11B NM_002546.4(TNFRSF11B):c.308G>A (p.Arg103His) SNV Uncertain significance 910164 GRCh37: 8:119945262-119945262
GRCh38: 8:118933023-118933023
37 TNFRSF11B NM_002546.4(TNFRSF11B):c.277G>A (p.Val93Ile) SNV Uncertain significance 910165 GRCh37: 8:119945293-119945293
GRCh38: 8:118933054-118933054
38 TNFRSF11B NM_002546.4(TNFRSF11B):c.139G>A (p.Gly47Ser) SNV Uncertain significance 910166 GRCh37: 8:119945431-119945431
GRCh38: 8:118933192-118933192
39 TNFRSF11B NM_002546.4(TNFRSF11B):c.*349T>A SNV Uncertain significance 910993 GRCh37: 8:119936264-119936264
GRCh38: 8:118924025-118924025
40 TNFRSF11B NM_002546.4(TNFRSF11B):c.*213C>T SNV Uncertain significance 910994 GRCh37: 8:119936400-119936400
GRCh38: 8:118924161-118924161
41 TNFRSF11B NM_002546.4(TNFRSF11B):c.*166C>G SNV Uncertain significance 910995 GRCh37: 8:119936447-119936447
GRCh38: 8:118924208-118924208
42 TNFRSF11B NM_002546.4(TNFRSF11B):c.104C>A (p.Thr35Asn) SNV Uncertain significance 911049 GRCh37: 8:119945466-119945466
GRCh38: 8:118933227-118933227
43 TNFRSF11B NM_002546.4(TNFRSF11B):c.-10G>A SNV Uncertain significance 911050 GRCh37: 8:119964070-119964070
GRCh38: 8:118951831-118951831
44 TNFRSF11B NM_002546.4(TNFRSF11B):c.853A>G (p.Ile285Val) SNV Uncertain significance 912224 GRCh37: 8:119936966-119936966
GRCh38: 8:118924727-118924727
45 TNFRSF11B NM_002546.4(TNFRSF11B):c.841G>T (p.Val281Leu) SNV Uncertain significance 912225 GRCh37: 8:119936978-119936978
GRCh38: 8:118924739-118924739
46 TNFRSF11B NM_002546.4(TNFRSF11B):c.720A>G (p.Ile240Met) SNV Uncertain significance 912226 GRCh37: 8:119938830-119938830
GRCh38: 8:118926591-118926591
47 TNFRSF11B NM_002546.4(TNFRSF11B):c.*545T>C SNV Likely benign 361684 rs11573947 GRCh37: 8:119936068-119936068
GRCh38: 8:118923829-118923829
48 TNFRSF11B NM_002546.4(TNFRSF11B):c.21C>T (p.Cys7=) SNV Likely benign 361697 rs373330021 GRCh37: 8:119964040-119964040
GRCh38: 8:118951801-118951801
49 TNFRSF11B NM_002546.4(TNFRSF11B):c.885T>A (p.Leu295=) SNV Likely benign 197745 rs11573942 GRCh37: 8:119936934-119936934
GRCh38: 8:118924695-118924695
50 TNFRSF11B NM_002546.4(TNFRSF11B):c.310G>A (p.Val104Met) SNV Benign 794144 rs11573906 GRCh37: 8:119945260-119945260
GRCh38: 8:118933021-118933021

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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