PDB5
MCID: PGT008
MIFTS: 46

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

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic 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 53 75
Hyperostosis Corticalis Deformans Juvenilis 57 53 25 59 75
Juvenile Paget Disease 57 53 25 59 75
Hyperphosphatasemia with Bone Disease 25 29 6 73
Hereditary Hyperphosphatasia 53 59 75 73
Jpd 57 53 25 75
Hyperphosphatasia, Familial Idiopathic 57 53 25
Hyperphosphatasemia, Chronic Congenital Idiopathic 57 53
Juvenile Paget's Disease 25 59
Paget Disease, Juvenile 13 55
Osteoectasia, Familial 57 75
Familial Osteoectasia 25 59
Pdb5 57 75
Jpg 53 59
Chronic Congenital Idiopathic Hyperphosphatasemia 25
Chronic Congenital Idiopathic Hyperphosphatasia 75
Paget Disease of Bone, Type 5, Juvenile-Onset 40
Hyperostosid Corticalis Deformans Juvenilis 53
Familial Idiopathic Hyperphosphatasemia 25
Osteoectasia with Hyperphosphatasia 25
Osteochalasia Desmalis Familiaris 25
Idiopathic Hyperphosphatasia 25
Juvenile Paget Disease; Jpd 57
Paget Disease Juvenile Type 53
Juvenile Pagets Disease 53

Characteristics:

Orphanet epidemiological data:

59
juvenile paget disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
onset in first decade


HPO:

32
paget disease of bone 5, juvenile-onset:
Onset and clinical course variable expressivity progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Paget Disease of Bone 5, Juvenile-Onset

NIH Rare Diseases : 53 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.

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 periodontitis, aggressive, 1. 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 Development Angiotensin activation of ERK. Affiliated tissues include bone and kidney, and related phenotypes are macrocephaly and hypertension

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 : 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)

UniProtKB/Swiss-Prot : 75 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 all 47)
# Related Disease Score Top Affiliating Genes
1 paget's disease of bone 31.2 CALCA TNFRSF11A TNFRSF11B TNFSF11
2 periodontitis, aggressive, 1 11.3
3 fibrogenesis imperfecta ossium 10.0 CALCA TNFRSF11B
4 pseudoxanthoma elasticum 10.0
5 autoimmune progesterone dermatitis 10.0
6 secondary hyperparathyroidism of renal origin 10.0 CALCA TNFRSF11B
7 hyperparathyroidism 10.0 CALCA TNFRSF11B
8 renal osteodystrophy 10.0 CALCA TNFRSF11B
9 giant cell reparative granuloma 10.0 CALCA TNFRSF11A
10 arthropathy 9.9 TNFRSF11B TNFSF11
11 periodontitis 9.9 TNFRSF11B TNFSF11
12 multicentric reticulohistiocytosis 9.9 TNFRSF11B TNFSF11
13 kummell's disease 9.9 TNFRSF11B TNFSF11
14 periodontitis, chronic 9.9 TNFRSF11B TNFSF11
15 chronic apical periodontitis 9.9 TNFRSF11B TNFSF11
16 bone giant cell tumor 9.9 CALCA TNFSF11
17 breast leiomyosarcoma 9.9 TNFRSF11A TNFSF11
18 osteopetrosis 9.9 TNFRSF11A TNFSF11
19 endosteal hyperostosis, autosomal dominant 9.9 TNFRSF11B TNFSF11
20 osteopetrosis, autosomal recessive 7 9.9 TNFRSF11A TNFSF11
21 osteonecrosis 9.9 TNFRSF11B TNFSF11
22 osteopetrosis, autosomal recessive 2 9.9 TNFRSF11A TNFSF11
23 bone inflammation disease 9.9 TNFRSF11B TNFSF11
24 chronic kidney failure 9.9 CALCA TNFRSF11B
25 aortic valve disease 2 9.9 TNFRSF11B TNFSF11
26 synovitis 9.8 TNFRSF11B TNFSF11
27 breast adenocarcinoma 9.8 CALCA TNFSF11
28 bone cancer 9.8 TNFRSF11A TNFSF11
29 psoriatic arthritis 9.8 TNFRSF11B TNFSF11
30 glucocorticoid-induced osteoporosis 9.7 CALCA TNFRSF11B TNFSF11
31 polyarticular onset juvenile idiopathic arthritis 9.7 TNFRSF11A TNFRSF11B TNFSF11
32 hemophilic arthropathy 9.7 TNFRSF11A TNFRSF11B TNFSF11
33 familial expansile osteolysis 9.7 TNFRSF11A TNFRSF11B TNFSF11
34 multicentric carpotarsal osteolysis syndrome 9.7 TNFRSF11A TNFRSF11B TNFSF11
35 aneurysmal bone cysts 9.7 CALCA TNFRSF11A TNFSF11
36 periapical periodontitis 9.7 TNFRSF11A TNFRSF11B TNFSF11
37 tooth resorption 9.7 TNFRSF11A TNFRSF11B TNFSF11
38 ischemic bone disease 9.7 TNFRSF11A TNFRSF11B TNFSF11
39 periodontal disease 9.7 TNFRSF11A TNFRSF11B TNFSF11
40 myeloma, multiple 9.7 TNFRSF11B TNFSF11
41 rheumatoid arthritis 9.6 TNFRSF11A TNFRSF11B TNFSF11
42 root resorption 9.5 CALCA TNFRSF11A TNFRSF11B TNFSF11
43 bone resorption disease 9.5 CALCA TNFRSF11A TNFRSF11B TNFSF11
44 bone remodeling disease 9.5 CALCA TNFRSF11A TNFRSF11B TNFSF11
45 giant cell tumor 9.5 CALCA TNFRSF11A TNFRSF11B TNFSF11
46 bone disease 9.5 CALCA TNFRSF11A TNFRSF11B TNFSF11
47 osteoporosis 9.5 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:

57
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

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

59 32 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
2 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
3 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
4 bowing of the long bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0006487
5 abnormality of the dentition 59 32 hallmark (90%) Very frequent (99-80%) HP:0000164
6 pectus carinatum 59 32 frequent (33%) Frequent (79-30%) HP:0000768
7 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
8 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
9 abnormality of retinal pigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007703
10 osteoporosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000939
11 subcutaneous nodule 59 32 occasional (7.5%) Occasional (29-5%) HP:0001482
12 hyperuricemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002149
13 melanocytic nevus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000995
14 recurrent fractures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002757
15 abnormality of the clavicle 59 32 hallmark (90%) Very frequent (99-80%) HP:0000889
16 rough bone trabeculation 59 32 hallmark (90%) Very frequent (99-80%) HP:0100670
17 cranial hyperostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004437
18 muscle weakness 32 HP:0001324
19 kyphosis 32 HP:0002808
20 thickened calvaria 32 HP:0002684
21 sensorineural hearing impairment 32 HP:0000407
22 retinopathy 32 occasional (7.5%) HP:0000488
23 motor delay 32 occasional (7.5%) HP:0001270
24 increased bone mineral density 32 HP:0011001
25 hyperphosphatemia 32 HP:0002905
26 barrel-shaped chest 32 HP:0001552
27 elevated alkaline phosphatase 32 HP:0003155
28 premature loss of teeth 32 HP:0006480
29 ankylosis 32 HP:0031013
30 elevated serum acid phosphatase 32 HP:0003148
31 hydroxyprolinemia 32 HP:0003260
32 hydroxyprolinuria 32 HP:0003080
33 macular scar 32 occasional (7.5%) HP:0200056
34 angioid streaks of the fundus 32 HP:0001102

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.13 TNFRSF11A TNFRSF11B TNFSF11
2 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:

41
Bone, Kidney

Publications for Paget Disease of Bone 5, Juvenile-Onset

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

# Title Authors Year
1
Juvenile Paget disease. ( 29080812 )
2018
2
Genotype-phenotype correlation in juvenile Paget disease: role of molecular alterations of the TNFRSF11B gene. ( 22638612 )
2012
3
Bilateral cavernous internal carotid aneurysms in a child with juvenile paget disease and osteoprotegerin deficiency. ( 17947367 )
2008

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 71)
# 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.544_546delGAC (p.Asp182del) deletion Pathogenic rs796051868 GRCh38 Chromosome 8, 118928784: 118928786
4 TNFRSF11B NM_002546.3(TNFRSF11B): c.260G> A (p.Cys87Tyr) single nucleotide variant Pathogenic rs104894091 GRCh37 Chromosome 8, 119945310: 119945310
5 TNFRSF11B NM_002546.3(TNFRSF11B): c.260G> A (p.Cys87Tyr) single nucleotide variant Pathogenic rs104894091 GRCh38 Chromosome 8, 118933071: 118933071
6 TNFRSF11B NM_002546.3(TNFRSF11B): c.349T> C (p.Phe117Leu) single nucleotide variant Pathogenic rs104894092 GRCh37 Chromosome 8, 119945221: 119945221
7 TNFRSF11B NM_002546.3(TNFRSF11B): c.349T> C (p.Phe117Leu) single nucleotide variant Pathogenic rs104894092 GRCh38 Chromosome 8, 118932982: 118932982
8 TNFRSF11B TNFRSF11B, 3-BP DEL AND 2-BP INS indel Pathogenic
9 TNFRSF11B NM_002546.3(TNFRSF11B): c.401-5T> C single nucleotide variant Benign rs3134046 GRCh37 Chromosome 8, 119941173: 119941173
10 TNFRSF11B NM_002546.3(TNFRSF11B): c.401-5T> C single nucleotide variant Benign rs3134046 GRCh38 Chromosome 8, 118928934: 118928934
11 TNFRSF11B NM_002546.3(TNFRSF11B): c.885T> A (p.Leu295=) single nucleotide variant Conflicting interpretations of pathogenicity rs11573942 GRCh37 Chromosome 8, 119936934: 119936934
12 TNFRSF11B NM_002546.3(TNFRSF11B): c.885T> A (p.Leu295=) single nucleotide variant Conflicting interpretations of pathogenicity rs11573942 GRCh38 Chromosome 8, 118924695: 118924695
13 TNFRSF11B TNFRSF11B, 245-KB DEL deletion Pathogenic
14 TNFRSF11B NM_002546.3(TNFRSF11B): c.226A> C (p.Thr76Pro) single nucleotide variant Pathogenic rs200071478 GRCh37 Chromosome 8, 119945344: 119945344
15 TNFRSF11B NM_002546.3(TNFRSF11B): c.226A> C (p.Thr76Pro) single nucleotide variant Pathogenic rs200071478 GRCh38 Chromosome 8, 118933105: 118933105
16 TNFRSF11B NM_002546.3(TNFRSF11B): c.817+8A> C single nucleotide variant Benign/Likely benign rs7844539 GRCh37 Chromosome 8, 119938725: 119938725
17 TNFRSF11B NM_002546.3(TNFRSF11B): c.817+8A> C single nucleotide variant Benign/Likely benign rs7844539 GRCh38 Chromosome 8, 118926486: 118926486
18 TNFRSF11B NM_002546.3(TNFRSF11B): c.768A> G (p.Leu256=) single nucleotide variant Benign/Likely benign rs2228568 GRCh37 Chromosome 8, 119938782: 119938782
19 TNFRSF11B NM_002546.3(TNFRSF11B): c.768A> G (p.Leu256=) single nucleotide variant Benign/Likely benign rs2228568 GRCh38 Chromosome 8, 118926543: 118926543
20 TNFRSF11B NM_002546.3(TNFRSF11B): c.400+4C> T single nucleotide variant Benign/Likely benign rs1564858 GRCh38 Chromosome 8, 118932927: 118932927
21 TNFRSF11B NM_002546.3(TNFRSF11B): c.400+4C> T single nucleotide variant Benign/Likely benign rs1564858 GRCh37 Chromosome 8, 119945166: 119945166
22 TNFRSF11B NM_002546.3(TNFRSF11B): c.9C> G (p.Asn3Lys) single nucleotide variant Benign rs2073618 GRCh37 Chromosome 8, 119964052: 119964052
23 TNFRSF11B NM_002546.3(TNFRSF11B): c.9C> G (p.Asn3Lys) single nucleotide variant Benign rs2073618 GRCh38 Chromosome 8, 118951813: 118951813
24 TNFRSF11B NM_002546.3(TNFRSF11B): c.*583T> A single nucleotide variant Likely benign rs7815440 GRCh37 Chromosome 8, 119936030: 119936030
25 TNFRSF11B NM_002546.3(TNFRSF11B): c.*583T> A single nucleotide variant Likely benign rs7815440 GRCh38 Chromosome 8, 118923791: 118923791
26 TNFRSF11B NM_002546.3(TNFRSF11B): c.*207C> G single nucleotide variant Uncertain significance rs886062646 GRCh37 Chromosome 8, 119936406: 119936406
27 TNFRSF11B NM_002546.3(TNFRSF11B): c.*207C> G single nucleotide variant Uncertain significance rs886062646 GRCh38 Chromosome 8, 118924167: 118924167
28 TNFRSF11B NM_002546.3(TNFRSF11B): c.714G> A (p.Glu238=) single nucleotide variant Likely benign rs11573930 GRCh38 Chromosome 8, 118926597: 118926597
29 TNFRSF11B NM_002546.3(TNFRSF11B): c.714G> A (p.Glu238=) single nucleotide variant Likely benign rs11573930 GRCh37 Chromosome 8, 119938836: 119938836
30 TNFRSF11B NM_002546.3(TNFRSF11B): c.-215C> T single nucleotide variant Uncertain significance rs886062649 GRCh38 Chromosome 8, 118952036: 118952036
31 TNFRSF11B NM_002546.3(TNFRSF11B): c.-215C> T single nucleotide variant Uncertain significance rs886062649 GRCh37 Chromosome 8, 119964275: 119964275
32 TNFRSF11B NM_002546.3(TNFRSF11B): c.-284C> T single nucleotide variant Uncertain significance rs11575929 GRCh37 Chromosome 8, 119964344: 119964344
33 TNFRSF11B NM_002546.3(TNFRSF11B): c.-284C> T single nucleotide variant Uncertain significance rs11575929 GRCh38 Chromosome 8, 118952105: 118952105
34 TNFRSF11B NM_002546.3(TNFRSF11B): c.-311G> T single nucleotide variant Uncertain significance rs779000439 GRCh37 Chromosome 8, 119964371: 119964371
35 TNFRSF11B NM_002546.3(TNFRSF11B): c.-311G> T single nucleotide variant Uncertain significance rs779000439 GRCh38 Chromosome 8, 118952132: 118952132
36 TNFRSF11B NM_002546.3(TNFRSF11B): c.*682T> C single nucleotide variant Uncertain significance rs189721016 GRCh37 Chromosome 8, 119935931: 119935931
37 TNFRSF11B NM_002546.3(TNFRSF11B): c.*682T> C single nucleotide variant Uncertain significance rs189721016 GRCh38 Chromosome 8, 118923692: 118923692
38 TNFRSF11B NM_002546.3(TNFRSF11B): c.*367G> A single nucleotide variant Benign rs7815884 GRCh37 Chromosome 8, 119936246: 119936246
39 TNFRSF11B NM_002546.3(TNFRSF11B): c.*367G> A single nucleotide variant Benign rs7815884 GRCh38 Chromosome 8, 118924007: 118924007
40 TNFRSF11B NM_002546.3(TNFRSF11B): c.1150T> C (p.Leu384=) single nucleotide variant Benign rs1804854 GRCh37 Chromosome 8, 119936669: 119936669
41 TNFRSF11B NM_002546.3(TNFRSF11B): c.1150T> C (p.Leu384=) single nucleotide variant Benign rs1804854 GRCh38 Chromosome 8, 118924430: 118924430
42 TNFRSF11B NM_002546.3(TNFRSF11B): c.699C> A (p.Asn233Lys) single nucleotide variant Uncertain significance rs150457771 GRCh38 Chromosome 8, 118926612: 118926612
43 TNFRSF11B NM_002546.3(TNFRSF11B): c.699C> A (p.Asn233Lys) single nucleotide variant Uncertain significance rs150457771 GRCh37 Chromosome 8, 119938851: 119938851
44 TNFRSF11B NM_002546.3(TNFRSF11B): c.234C> T (p.Asp78=) single nucleotide variant Uncertain significance rs144654126 GRCh38 Chromosome 8, 118933097: 118933097
45 TNFRSF11B NM_002546.3(TNFRSF11B): c.234C> T (p.Asp78=) single nucleotide variant Uncertain significance rs144654126 GRCh37 Chromosome 8, 119945336: 119945336
46 TNFRSF11B NM_002546.3(TNFRSF11B): c.21C> T (p.Cys7=) single nucleotide variant Uncertain significance rs373330021 GRCh38 Chromosome 8, 118951801: 118951801
47 TNFRSF11B NM_002546.3(TNFRSF11B): c.21C> T (p.Cys7=) single nucleotide variant Uncertain significance rs373330021 GRCh37 Chromosome 8, 119964040: 119964040
48 TNFRSF11B NM_002546.3(TNFRSF11B): c.-223C> T single nucleotide variant Benign rs2073617 GRCh38 Chromosome 8, 118952044: 118952044
49 TNFRSF11B NM_002546.3(TNFRSF11B): c.-223C> T single nucleotide variant Benign rs2073617 GRCh37 Chromosome 8, 119964283: 119964283
50 TNFRSF11B NM_002546.3(TNFRSF11B): c.-257G> T single nucleotide variant Uncertain significance rs368831724 GRCh37 Chromosome 8, 119964317: 119964317

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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.48 TNFRSF11A TNFRSF11B TNFSF11
2
Show member pathways
12.45 TNFRSF11A TNFRSF11B TNFSF11
3
Show member pathways
12.17 TNFRSF11A TNFRSF11B TNFSF11
4
Show member pathways
12.14 TNFRSF11A TNFRSF11B TNFSF11
5
Show member pathways
11.9 TNFRSF11A TNFRSF11B TNFSF11
6
Show member pathways
11.8 TNFRSF11A TNFSF11
7 11.8 TNFRSF11A TNFSF11
8 11.47 TNFRSF11A TNFSF11
9 11.44 TNFRSF11A TNFRSF11B TNFSF11
10 11.43 TNFRSF11A TNFSF11
11
Show member pathways
11.32 TNFRSF11A TNFSF11
12 10.85 TNFRSF11B TNFSF11
13 10.58 CALCA TNFRSF11A TNFRSF11B TNFSF11
14 10.4 TNFRSF11B TNFSF11
15 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 13)
# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.65 CALCA TNFRSF11B TNFSF11
2 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.52 TNFRSF11A TNFSF11
3 positive regulation of DNA-binding transcription factor activity GO:0051091 9.51 TNFRSF11A TNFSF11
4 ossification GO:0001503 9.49 TNFRSF11A TNFSF11
5 osteoclast differentiation GO:0030316 9.46 TNFRSF11A TNFSF11
6 positive regulation of bone resorption GO:0045780 9.43 TNFRSF11A TNFSF11
7 tumor necrosis factor-mediated signaling pathway GO:0033209 9.43 TNFRSF11A TNFRSF11B TNFSF11
8 mammary gland alveolus development GO:0060749 9.4 TNFRSF11A TNFSF11
9 negative regulation of bone resorption GO:0045779 9.37 CALCA TNFRSF11B
10 TNFSF11-mediated signaling pathway GO:0071847 9.32 TNFRSF11A TNFSF11
11 positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling GO:0071848 9.16 TNFRSF11A TNFSF11
12 positive regulation of fever generation by positive regulation of prostaglandin secretion GO:0071812 8.96 TNFRSF11A TNFSF11
13 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:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 8.62 TNFRSF11B TNFSF11

Sources for Paget Disease of Bone 5, Juvenile-Onset

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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30 HGMD
31 HMDB
32 HPO
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34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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73 UMLS
74 UMLS via Orphanet
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