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IJO
MCID: OST164
MIFTS: 53

Osteoporosis, Juvenile (IJO)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Osteoporosis, Juvenile

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MalaCards integrated aliases for Osteoporosis, Juvenile:

Name: Osteoporosis, Juvenile 56 52
Idiopathic Juvenile Osteoporosis 56 12 74 52 58 29 54 15
Idiopathic Osteoporosis 12 54 71 32
Juvenile Osteoporosis 12 52 58 71
Ijo 56 52 58
Idiopathic Juvenile Osteoporosis; Ijo 56

Characteristics:

Orphanet epidemiological data:

58
idiopathic juvenile osteoporosis
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Childhood;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
osteoporosis, juvenile:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Bone diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare systemic and rhumatological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:12559
OMIM 56 259750
ICD9CM 34 733.02
SNOMED-CT 67 3345002
ICD10 32 M80.5 M81.5
ICD10 via Orphanet 33 M81.5
UMLS via Orphanet 72 C0264080
Orphanet 58 ORPHA85193
MedGen 41 C0264080
UMLS 71 C0158447 C0264080
Sources

Summaries for Osteoporosis, Juvenile

About this section
NIH Rare Diseases : 52 Juvenile osteoporosis is a condition of bone demineralization characterized by pain in the back and extremities, multiple fractures, difficulty walking, and evidence of osteoporosis . Symptoms typically develop just before puberty. Osteoporosis is rare in children and adolescents. When it does occur, it is usually caused by an underlying medical disorder or by medications used to treat the disorder. This is called secondary osteoporosis . Sometimes, however, there is no identifiable cause of osteoporosis in a child. This is known as idiopathic osteoporosis . There is no established medical or surgical therapy for juvenile osteoporosis. In some cases, treatment is not necessary, as the condition resolves spontaneously. Early diagnosis may allow for preventive steps, including physical therapy , avoidance of weight-bearing activities, use of crutches and other supportive care. A well-balanced diet rich in calcium and vitamin D is also important. In severe, long-lasting cases, medications such as bisphosphonates may be used. In most cases, complete recovery of bone occurs.

MalaCards based summary : Osteoporosis, Juvenile, also known as idiopathic juvenile osteoporosis, is related to insulin-like growth factor i and osteogenesis imperfecta, type i. An important gene associated with Osteoporosis, Juvenile is WNT1 (Wnt Family Member 1), and among its related pathways/superpathways are Signaling by Wnt and Gastric cancer. The drugs Alendronate and Pamidronate have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and testes, and related phenotypes are osteoporosis and recurrent fractures

Disease Ontology : 12 An osteoporosis with no known cause that is characterized by pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis.

Wikipedia : 74 Juvenile osteoporosis is osteoporosis in children and adolescents. Osteoporosis is rare in children and... more...

More information from OMIM: 259750
Sources

Related Diseases for Osteoporosis, Juvenile

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Diseases in the Osteoporosis family:

Osteoporosis, Juvenile Juvenile Primary Osteoporosis
Lrp5-Related Primary Osteoporosis

Diseases related to Osteoporosis, Juvenile via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 163)
# Related Disease Score Top Affiliating Genes
1 insulin-like growth factor i 30.8 IGFBP3 IGF1 BGLAP
2 osteogenesis imperfecta, type i 30.3 COL1A2 COL1A1 CD36 BGLAP
3 osteogenesis imperfecta, type iii 29.9 WNT1 COL1A2 COL1A1 CD36 BGLAP
4 secondary hyperparathyroidism 29.9 TNFRSF11B PTH GC CALCA BGLAP
5 anorexia nervosa 29.8 TNFRSF11B IGFBP3 IGF1 BGLAP
6 osteomalacia 29.4 TNFSF11 SOST PTH GC CALCA BGLAP
7 osteoarthritis 29.3 TNFSF11 TNFRSF11B RUNX2 IGF1 BGLAP
8 hyperparathyroidism 29.3 TNFSF11 TNFRSF11B SOST PTH IGF1 GC
9 scoliosis 28.9 WNT3A TNFSF11 TNFRSF11B RUNX2 IGF1 COL1A2
10 bone disease 28.4 WNT3A TNFSF11 TNFRSF11B SOST RUNX2 PTH
11 sclerosteosis 28.3 WNT3A TNFSF11 TNFRSF11B SOST RUNX2 PTH
12 bone resorption disease 28.1 TNFSF11 TNFRSF11B SOST RUNX2 PTH MIR550A1
13 brittle bone disorder 27.8 WNT1 TNFSF11 TNFRSF11B SOST RUNX2 PTH
14 osteoporosis 27.0 WNT3A WNT1 TNFSF11 TNFRSF11B SOST RUNX2
15 juvenile primary osteoporosis 11.9
16 slipped capital femoral epiphysis 10.5 IGFBP3 IGF1
17 secondary adrenal insufficiency 10.5 IGFBP3 IGF1
18 ehlers-danlos/osteogenesis imperfecta syndrome 10.5 COL1A2 COL1A1
19 col1a1/2 osteogenesis imperfecta 10.5 COL1A2 COL1A1
20 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 10.5 IGFBP3 IGF1
21 high bone mass osteogenesis imperfecta 10.5 COL1A2 COL1A1
22 substernal goiter 10.5 PTH CALCA
23 mammographic density 10.5 IGFBP3 IGF1
24 larsen-like syndrome 10.5 COL1A2 COL1A1
25 bone mineral density quantitative trait locus 18 10.5
26 ehlers-danlos syndrome, arthrochalasia type, 2 10.4 COL1A2 COL1A1
27 type i ehlers-danlos syndrome 10.4 COL1A2 COL1A1
28 thyroid gland disease 10.4 PTH IGF1 CALCA
29 goiter 10.4 IGF1 CALCA BGLAP
30 diffuse idiopathic skeletal hyperostosis 10.4 IGFBP3 IGF1 DKK1
31 craniodiaphyseal dysplasia 10.4 SOST LRP5 DKK1
32 hypercalcemia, infantile, 1 10.4 PTH CALCA
33 nontoxic goiter 10.4 PTH CALCA BGLAP
34 hypervitaminosis d 10.4 PTH GC CALCA
35 carcinoid syndrome 10.4 IGF1 CALCA
36 achondroplasia 10.4 IGF1 COL1A1 BGLAP
37 osteopetrosis, autosomal dominant 2 10.4 TNFSF11 LRP5 BGLAP
38 arthrochalasia ehlers-danlos syndrome 10.4 COL1A2 COL1A1
39 hypocalcemia, autosomal dominant 1 10.3 PTH CALCA BGLAP
40 pediatric osteosarcoma 10.3 MIR188 IGFBP3 IGF1
41 nutritional deficiency disease 10.3 IGFBP3 IGF1 BGLAP
42 sclerosteosis 2 10.3 SOST LRP5
43 polyarticular onset juvenile idiopathic arthritis 10.3 TNFSF11 TNFRSF11B
44 fasting hypoglycemia 10.3 IGF1 CD36
45 synovial chondromatosis 10.3 RUNX2 COL1A1
46 spinal stenosis 10.3 COL1A2 COL1A1 CALCA
47 osteogenesis imperfecta, type vi 10.3 SOST COL1A2 COL1A1
48 malignant ovarian brenner tumor 10.3 TNFSF11 PTH CALCA
49 hemophilic arthropathy 10.3 TNFSF11 TNFRSF11B
50 aneurysmal bone cysts 10.3 TNFSF11 CALCA

Comorbidity relations with Osteoporosis, Juvenile via Phenotypic Disease Network (PDN):


Osteoporosis

Graphical network of the top 20 diseases related to Osteoporosis, Juvenile:



Diseases related to Osteoporosis, Juvenile
Sources

Symptoms & Phenotypes for Osteoporosis, Juvenile

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Human phenotypes related to Osteoporosis, Juvenile:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000939
2 recurrent fractures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002757
3 bone pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002653
4 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
5 vertebral compression fractures 58 31 frequent (33%) Frequent (79-30%) HP:0002953
6 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
7 low serum calcitriol 31 HP:0012052

Symptoms via clinical synopsis from OMIM:

56
G U:
normal renal function

Skel:
osteoporosis developing in childhood or adolescence
low plasma calcitriol (1,25-dihydroxycholecalciferol)
normal serum calcifediol (25-hydroxycholecalciferol)

Eyes:
normal sclerae

Misc:
healing with sexual maturation

Clinical features from OMIM:

259750

MGI Mouse Phenotypes related to Osteoporosis, Juvenile:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.32 BGLAP CD36 COL1A1 COL1A2 DKK1 IGF1
2 growth/size/body region MP:0005378 10.27 CD36 COL1A1 COL1A2 DKK1 IGF1 IGFBP3
3 cardiovascular system MP:0005385 10.26 CD36 COL1A1 COL1A2 GC IGF1 IGFBP3
4 endocrine/exocrine gland MP:0005379 10.22 BGLAP CD36 COL1A1 GC IGF1 IGFBP3
5 homeostasis/metabolism MP:0005376 10.22 BGLAP CD36 COL1A1 COL1A2 DKK1 GC
6 hematopoietic system MP:0005397 10.21 BGLAP CD36 COL1A1 COL1A2 IGF1 LRP5
7 craniofacial MP:0005382 10.15 COL1A1 DKK1 LRP5 PTH RUNX2 TNFRSF11B
8 immune system MP:0005387 10.15 BGLAP CD36 COL1A1 COL1A2 IGF1 LRP5
9 limbs/digits/tail MP:0005371 10.13 COL1A1 COL1A2 DKK1 IGF1 IGFBP3 LRP5
10 muscle MP:0005369 9.91 CD36 COL1A1 COL1A2 IGF1 IGFBP3 RUNX2
11 skeleton MP:0005390 9.89 BGLAP CD36 COL1A1 COL1A2 DKK1 GC
12 respiratory system MP:0005388 9.7 COL1A1 DKK1 IGF1 RUNX2 TNFSF11 WNT1
13 vision/eye MP:0005391 9.28 CD36 COL1A1 COL1A2 DKK1 IGFBP3 LRP5
Sources

Drugs & Therapeutics for Osteoporosis, Juvenile

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Drugs for Osteoporosis, Juvenile (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Alendronate Approved Phase 4 66376-36-1, 121268-17-5 2088
2
Pamidronate Approved Phase 4 40391-99-9 4674
3 Diphosphonates Phase 4
4
Teriparatide Approved, Investigational Phase 2, Phase 3 52232-67-4 16133850
5
Ergocalciferol Approved, Nutraceutical Phase 3 50-14-6 5280793
6
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
7
Vitamin D3 Approved, Nutraceutical Phase 3 67-97-0 5280795 6221
8 Ergocalciferols Phase 3
9 Vitamins Phase 3
10 Calciferol Phase 3
11 Vitamin D2 Phase 3
12 Trace Elements Phase 3
13 Nutrients Phase 3
14 Micronutrients Phase 3
15 Calcium, Dietary Phase 2, Phase 3
16 Hormones Phase 2, Phase 3
17
Calcium Nutraceutical Phase 2, Phase 3 7440-70-2 271
18
Calcium carbonate Approved, Investigational Phase 2 471-34-1
19
Zoledronic Acid Approved Phase 2 118072-93-8 68740
20
Denosumab Approved Phase 2 615258-40-7
21 Calcium Supplement Phase 2
22 glucocorticoids Phase 2
23
Parathyroid hormone Approved, Investigational 9002-64-6
24 Hormone Antagonists

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 Bisphosphonate Therapy for Osteogenesis Imperfecta Completed NCT00159419 Phase 4 Alendronate;Pamidronate
2 Growth Hormone Therapy and Bone Quality in Pediatric Osteoporosis Unknown status NCT00757393 Phase 3 Vitamin D + Calcium + Exercise program + Humatrope
3 Teriparatide for the Treatment of Idiopathic Osteoporosis in Premenopausal Women Completed NCT00697463 Phase 2, Phase 3 Teriparatide (PTH 1-34)
4 A Non-Randomized, Open-Label, Prospective, Non-Controlled, 12-Month Clinical Trial to Determine the Effects of Alendronate 35 or 70 mg/Week Depending Upon Body Weight, in Children and Adolescent With IJO Completed NCT00010439 Phase 2 Alendronate
5 Alendronate Versus Placebo for Idiopathic Juvenile Osteoporosis Completed NCT00001720 Phase 2 Alendronate
6 A Randomized, Double-Blind, Placebo-Controlled, Prospective, Cross-Over Phase II Clinical Trial to Determine the Safety and Efficacy of Alendronate (Fosamax) in Juvenile Osteoporosis (IND#60,017) Completed NCT00259857 Phase 2 Alendronate
7 Randomized Controlled Trial of Teriparatide for the Treatment of Idiopathic Osteoporosis in Premenopausal Women Completed NCT01440803 Phase 2 Teriparatide;Saline Placebo
8 Bisphosphonates for Prevention of Post-Denosumab Bone Loss in Premenopausal Women With Idiopathic Osteoporosis Recruiting NCT03396315 Phase 2 Alendronate;Zoledronic Acid
9 Denosumab for Prevention of Post-Teriparatide Bone Loss in Premenopausal Women With Idiopathic Osteoporosis (IOP) Active, not recruiting NCT02049866 Phase 2 Denosumab
10 Molecular Genetic Study of Suspected Cases of Osteogenesis Imperfecta Attending Assiut University Children Hospital Unknown status NCT03169192 Zoledronic Acid
11 The Influence of Bisphosphonates in the Oral Cavity in Children Completed NCT00402064
12 Phase II Study of Alendronate Sodium in Juvenile Osteoporosis (IND# 60,017)-Post Study Evaluation of Participants From Phase IIa and Phase IIb Clinical Study. Completed NCT00920075 Alendronate (Fosamax)
13 Randomized Study of Human Parathyroid Hormone in Middle-Aged Men With Idiopathic Osteoporosis Completed NCT00004406 human parathyroid hormone
14 Bone Fragility Study in Pediatric Population With Risk Factors Completed NCT02751008

Search NIH Clinical Center for Osteoporosis, Juvenile

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Genetic Tests for Osteoporosis, Juvenile

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Genetic tests related to Osteoporosis, Juvenile:

# Genetic test Affiliating Genes
1 Idiopathic Juvenile Osteoporosis 29
Sources

Anatomical Context for Osteoporosis, Juvenile

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MalaCards organs/tissues related to Osteoporosis, Juvenile:

40
Bone, Skin, Testes
Sources

Publications for Osteoporosis, Juvenile

About this section

Articles related to Osteoporosis, Juvenile:

(show top 50) (show all 124)
# Title Authors PMID Year
1
Effect of calcitonin replacement therapy in idiopathic juvenile osteoporosis. 61 56
3177335 1988
2
Calcitriol deficiency in idiopathic juvenile osteoporosis. 61 56
6896958 1982
3
Idiopathic juvenile osteoporosis. 56 61
314235 1979
4
IDIOPATHIC JUVENILE OSTEOPOROSIS. 61 56
14319616 1965
5
WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. 6
23656646 2013
6
Mutations in WNT1 cause different forms of bone fragility. 6
23499309 2013
7
Familial aminoaciduria in osteogenesis imperfecta. 56
13879232 1962
8
Osteoporosis of unknown cause in younger people: idiopathic osteoporosis. 56
13575457 1958
9
Collagen peptides in osteogenesis imperfecta, idiopathic juvenile osteoporosis and Ehlers--Danlos syndrome. 54 61
8816205 1996
10
Type I collagen biosynthesis by skin fibroblasts from patients with idiopathic juvenile osteoporosis. 54 61
7671570 1995
11
Novel PLS3 variants in X-linked osteoporosis: Exploring bone material properties. 61
29736964 2018
12
Primary osteoporosis in children. 61
28866630 2017
13
A Subtrochanteric Femoral Stress Fracture following Bisphosphonate Treatment in an Adolescent Girl. 61
27379824 2017
14
Evidence of altered matrix composition in iliac crest biopsies from patients with idiopathic juvenile osteoporosis. 61
26539896 2016
15
[Osteoporosis - epidemiology and pathogenesis]. 61
28124937 2016
16
The EULAR Outcome Measures Library: development and an example from a systematic review for systemic lupus erythematous instruments. 61
25797345 2015
17
Idiopathic Juvenile Osteoporosis: A Case Report. 61
26436063 2015
18
Idiopathic Juvenile Osteoporosis: Clinical Experience from a Single Centre and Screening of LRP5 and LRP6 Genes. 61
25783012 2015
19
Idiopathic juvenile osteoporosis: A case report and review of the literature. 61
25768278 2015
20
Radiographic and MR Imaging Findings of the Spine after Bisphosphonate Treatment, in a Child with Idiopathic Juvenile Osteoporosis. 61
25688321 2015
21
The risk of bisphosphonate-related osteonecrosis of the jaw in children. A case report and literature review. 61
24386765 2013
22
Pamidronate treatment stimulates the onset of recovery phase reducing fracture rate and skeletal deformities in patients with idiopathic juvenile osteoporosis: comparison with untreated patients. 61
23549954 2013
23
[Idiopathic juvenile osteoporosis]. 61
23490432 2013
24
Juvenile osteoporosis in a 5-year-old girl. 61
24082756 2013
25
Idiopathic juvenile osteoporosis: a cross-sectional single-centre experience with bone histomorphometry and quantitative computed tomography. 61
23418950 2013
26
Reduced proliferation and osteocalcin expression in osteoblasts of male idiopathic osteoporosis. 54
20101397 2010
27
Severe osteoporosis and high level TSH in a child before the diagnosis of acute lymphoblastic leukemia. 61
19636264 2009
28
Osteoporosis-pseudoglioma syndrome: description of 9 new cases and beneficial response to bisphosphonates. 54
18602879 2008
29
Vitamin D-binding protein gene microsatellite polymorphism influences BMD and risk of fractures in men. 54
18038108 2008
30
[Osteoporosis in children and adolescents]. 61
17395422 2007
31
Assessment of vitamin D status in male osteoporosis. 54
16339300 2006
32
Osteoblast dysfunction in male idiopathic osteoporosis. 54
16467976 2006
33
Idiopathic juvenile osteoporosis--an analysis of the muscle-bone relationship. 61
16951909 2006
34
How to manage osteoporosis in children. 61
16301193 2005
35
LRP5 gene polymorphisms and idiopathic osteoporosis in men. 54
16168727 2005
36
Bisphosphonate treatment of pediatric bone disease. 61
16361982 2005
37
Missense mutations in LRP5 are not a common cause of idiopathic osteoporosis in adult men. 54
16234968 2005
38
Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children. 54
15824851 2005
39
Idiopathic osteoporosis in premenopausal women. 54
15300364 2005
40
The effect of intranasal salmon calcitonin therapy on bone mineral density in idiopathic male osteoporosis without vertebral fractures--an open label study. 54
15664001 2005
41
Effective parenteral clodronate treatment of a child with severe juvenile idiopathic osteoporosis. 61
15517381 2005
42
Three children with lower limb fractures and a mineralization defect: a novel bone fragility disorder? 61
15542026 2004
43
Calcitonin therapy in osteoporosis. 54
15743107 2004
44
Concentration of insulin-like growth factor (IGF)-I in iliac crest bone matrix in premenopausal women with idiopathic osteoporosis. 54
14758570 2004
45
Present and future pharmacotherapy for osteoporosis. 54
14566385 2003
46
Assessment of bone quality by quantitative ultrasound of proximal phalanges of the hand and fracture rate in children and adolescents with bone and mineral disorders. 61
12700367 2003
47
The bone formation defect in idiopathic juvenile osteoporosis is surface-specific. 61
12110417 2002
48
Idiopathic juvenile osteoporosis. 61
11973603 2002
49
A randomized trial of nasal spray salmon calcitonin in men with idiopathic osteoporosis: effects on bone mineral density and bone markers. 54
11874243 2002
50
Use of bisphosphonates in children and adolescents. 61
12199351 2002
Sources

Variations for Osteoporosis, Juvenile

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Expression for Osteoporosis, Juvenile

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Search GEO for disease gene expression data for Osteoporosis, Juvenile.
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Pathways for Osteoporosis, Juvenile

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Pathways related to Osteoporosis, Juvenile according to GeneCards Suite gene sharing:

(show all 25)
# Super pathways Score Top Affiliating Genes
1
Signaling by Wnt 65
Show member pathways
 12.76 WNT3A WNT1 SOST LRP5 DKK1
2
Gastric cancer 36
Show member pathways
 12.62 WNT3A WNT1 TNFSF11 LRP5 IGF1
3
mTOR signaling pathway (KEGG) 36
Show member pathways
 12.37 WNT3A WNT1 LRP5 IGF1
4
Wnt signaling pathway 36
Show member pathways
 12.33 WNT3A WNT1 SOST LRP5 DKK1
5
WNT Signaling 63
12.29 WNT3A WNT1 LRP5 DKK1
6
Presynaptic function of Kainate receptors 65
Show member pathways
 12.28 WNT3A WNT1 PTH CALCA
7
Proteoglycans in cancer 36
12.17 WNT3A WNT1 IGF1 COL1A2 COL1A1
8
Senescence and Autophagy in Cancer 1
11.82 IGFBP3 IGF1 COL1A1
9
Mesenchymal Stem Cells and Lineage-specific Markers 64
11.81 RUNX2 PTH IGFBP3 IGF1 BGLAP
10
Binding and Uptake of Ligands by Scavenger Receptors 65
Show member pathways
 11.8 COL1A2 COL1A1 CD36
11
Parathyroid hormone synthesis, secretion and action 36
11.76 TNFSF11 SOST RUNX2 PTH LRP5 BGLAP
12
Primary Focal Segmental Glomerulosclerosis FSGS 1
11.61 WNT1 LRP5 DKK1
13
Endochondral Ossification 1
11.54 RUNX2 PTH IGF1
14
Cell adhesion_ECM remodeling 22
11.5 IGF1 COL1A2 COL1A1
15
Cardiac Progenitor Differentiation 1
11.42 WNT3A IGF1 DKK1
16
Differentiation Pathway 1
11.4 WNT3A WNT1 TNFSF11 IGF1 DKK1
17
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics 60
11.39 COL1A2 COL1A1 CD36
18
Wnt signaling network 1
11.15 WNT3A WNT1 LRP5 DKK1
19
Wnt/beta-catenin Signaling Pathway in Leukemia 1
11.03 WNT1 LRP5 DKK1
20
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 22
11.02 TNFSF11 RUNX2 PTH COL1A2 COL1A1 BGLAP
21
Negative regulation of TCF-dependent signaling by WNT ligand antagonists 65
Show member pathways
 10.99 WNT3A SOST LRP5 DKK1
22
Transcription_Role of VDR in regulation of genes involved in osteoporosis 22
10.88 TNFSF11 TNFRSF11B RUNX2 PTH IGF1 COL1A1
23
Osteoclast Signaling 1
10.82 TNFSF11 TNFRSF11B
24
Osteoblast Signaling 1
10.7 TNFSF11 TNFRSF11B PTH COL1A1 BGLAP
25
Vitamin D Metabolism 1
10.58 PTH GC
Sources

GO Terms for Osteoporosis, Juvenile

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Cellular components related to Osteoporosis, Juvenile according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.8 WNT3A WNT1 TNFSF11 TNFRSF11B SOST PTH
2 Golgi lumen GO:0005796 9.65 WNT3A WNT1 BGLAP
3 collagen trimer GO:0005581 9.63 COL1A2 COL1A1 CD36
4 endoplasmic reticulum lumen GO:0005788 9.63 WNT3A WNT1 IGFBP3 COL1A2 COL1A1 BGLAP
5 endocytic vesicle membrane GO:0030666 9.61 WNT3A WNT1 CD36
6 extracellular space GO:0005615 9.53 WNT3A WNT1 TNFSF11 TNFRSF11B SOST PTH
7 Wnt-Frizzled-LRP5/6 complex GO:1990851 9.4 WNT3A LRP5
8 insulin-like growth factor ternary complex GO:0042567 9.37 IGFBP3 IGF1
9 insulin-like growth factor binding protein complex GO:0016942 9.32 IGFBP3 IGF1
10 collagen type I trimer GO:0005584 9.26 COL1A2 COL1A1

Biological processes related to Osteoporosis, Juvenile according to GeneCards Suite gene sharing:

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.14 WNT3A WNT1 TNFSF11 RUNX2 PTH LRP5
2 positive regulation of cell proliferation GO:0008284 10.03 WNT3A WNT1 RUNX2 LRP5 IGF1
3 positive regulation of gene expression GO:0010628 9.95 WNT3A TNFSF11 RUNX2 IGF1 DKK1 CD36
4 extracellular matrix organization GO:0030198 9.92 WNT3A TNFRSF11B COL1A2 COL1A1
5 positive regulation of transcription, DNA-templated GO:0045893 9.91 WNT3A WNT1 SOST RUNX2 LRP5 IGF1
6 Wnt signaling pathway GO:0016055 9.83 WNT3A WNT1 SOST LRP5 DKK1
7 platelet activation GO:0030168 9.82 WNT3A COL1A2 COL1A1
8 positive regulation of DNA-binding transcription factor activity GO:0051091 9.8 WNT3A WNT1 TNFSF11 LRP5
9 canonical Wnt signaling pathway GO:0060070 9.78 WNT3A WNT1 LRP5
10 response to nutrient levels GO:0031667 9.77 PTH COL1A1 BGLAP
11 response to mechanical stimulus GO:0009612 9.76 SOST COL1A1 BGLAP
12 positive regulation of osteoblast differentiation GO:0045669 9.75 RUNX2 LRP5 IGF1
13 regulation of blood pressure GO:0008217 9.74 LRP5 COL1A2 CALCA
14 negative regulation of BMP signaling pathway GO:0030514 9.7 WNT1 SOST DKK1
15 positive regulation of glycogen biosynthetic process GO:0045725 9.65 PTH IGF1
16 response to inorganic substance GO:0010035 9.65 TNFRSF11B BGLAP
17 osteoblast differentiation GO:0001649 9.65 WNT3A RUNX2 IGFBP3 COL1A1 BGLAP
18 negative regulation of bone resorption GO:0045779 9.64 TNFRSF11B CALCA
19 regulation of osteoclast differentiation GO:0045670 9.63 TNFSF11 BGLAP
20 negative regulation of ossification GO:0030279 9.63 SOST DKK1 CALCA
21 spinal cord association neuron differentiation GO:0021527 9.62 WNT3A WNT1
22 skin morphogenesis GO:0043589 9.61 COL1A2 COL1A1
23 osteoblast development GO:0002076 9.58 RUNX2 LRP5 BGLAP
24 Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation GO:1904953 9.56 WNT3A WNT1
25 tooth eruption GO:0044691 9.55 TNFSF11 COL1A1
26 ossification GO:0001503 9.55 TNFSF11 SOST RUNX2 COL1A1 BGLAP
27 cell proliferation in midbrain GO:0033278 9.54 WNT3A WNT1
28 positive regulation of dermatome development GO:0061184 9.51 WNT3A WNT1
29 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.5 WNT1 IGFBP3 IGF1
30 bone development GO:0060348 9.35 WNT1 TNFSF11 PLS3 LRP5 BGLAP
31 skeletal system development GO:0001501 9.17 TNFRSF11B RUNX2 PTH IGF1 COL1A2 COL1A1

Molecular functions related to Osteoporosis, Juvenile according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 co-receptor binding GO:0039706 9.26 WNT3A DKK1
2 cytokine activity GO:0005125 9.26 WNT3A WNT1 TNFSF11 TNFRSF11B
3 platelet-derived growth factor binding GO:0048407 9.16 COL1A2 COL1A1
4 receptor ligand activity GO:0048018 8.8 WNT3A WNT1 PTH
Sources

Sources for Osteoporosis, Juvenile

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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