IJO
MCID: OST164
MIFTS: 54

Osteoporosis, Juvenile (IJO)

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

Aliases & Classifications for Osteoporosis, Juvenile

MalaCards integrated aliases for Osteoporosis, Juvenile:

Name: Osteoporosis, Juvenile 57 20
Idiopathic Juvenile Osteoporosis 57 12 73 20 58 29 54 15
Idiopathic Osteoporosis 12 54 70 32
Juvenile Osteoporosis 12 20 58 70
Ijo 57 20 58
Idiopathic Juvenile Osteoporosis; Ijo 57

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
osteoporosis, juvenile:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:12559
OMIM® 57 259750
ICD9CM 34 733.02
SNOMED-CT 67 3345002
ICD10 32 M80.5 M81.5
ICD10 via Orphanet 33 M81.5
UMLS via Orphanet 71 C0264080
Orphanet 58 ORPHA85193
MedGen 41 C0264080
UMLS 70 C0158447 C0264080

Summaries for Osteoporosis, Juvenile

GARD : 20 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 Calcium, Dietary and Hormones have been mentioned in the context of this disorder. Affiliated tissues include bone and skin, 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 : 73 Juvenile osteoporosis is osteoporosis in children and adolescents. Osteoporosis is rare in children and... more...

More information from OMIM: 259750

Related Diseases for Osteoporosis, Juvenile

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 184)
# Related Disease Score Top Affiliating Genes
1 insulin-like growth factor i 30.7 IGFBP3 IGF1 BGLAP
2 osteogenesis imperfecta, type i 30.3 COL1A2 COL1A1 CD36 BGLAP
3 secondary hyperparathyroidism 30.2 PTH GC CALCA BGLAP
4 hyperparathyroidism 30.2 TNFSF11 PTH GC CALCA BGLAP
5 osteomalacia 30.0 PTH GC CALCA BGLAP
6 osteogenesis imperfecta, type iii 29.9 WNT1 COL1A2 COL1A1 CD36 BGLAP
7 scoliosis 29.5 WNT3A TNFSF11 RUNX2 IGF1 COL1A2 COL1A1
8 bone resorption disease 29.0 TNFSF11 SOST RUNX2 PTH MIR550A1 MIR188
9 sclerosteosis 29.0 WNT3A TNFSF11 SOST RUNX2 PTH LRP5
10 bone disease 28.9 WNT3A TNFSF11 SPARC SOST RUNX2 PTH
11 brittle bone disorder 28.1 WNT3A WNT1 TNFSF11 SPARC SOST RUNX2
12 osteoporosis 27.1 WNT3A WNT1 TNFSF11 SPARC SOST RUNX2
13 juvenile primary osteoporosis 11.4
14 osteogenesis imperfecta, type vi 10.4 SOST COL1A1
15 slipped capital femoral epiphysis 10.4 IGFBP3 IGF1
16 secondary adrenal insufficiency 10.4 IGFBP3 IGF1
17 pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities 10.4 IGFBP3 IGF1
18 ehlers-danlos/osteogenesis imperfecta syndrome 10.4 COL1A2 COL1A1
19 col1a1/2 osteogenesis imperfecta 10.4 COL1A2 COL1A1
20 substernal goiter 10.4 PTH CALCA
21 mammographic density 10.4 IGFBP3 IGF1
22 high bone mass osteogenesis imperfecta 10.3 COL1A2 COL1A1
23 arthrochalasia ehlers-danlos syndrome 10.3 COL1A2 COL1A1
24 larsen-like syndrome 10.3 COL1A2 COL1A1
25 fibrogenesis imperfecta ossium 10.3 COL1A2 COL1A1
26 epicondylitis 10.3 COL1A1 CALCA
27 potter's syndrome 10.3 IGFBP3 IGF1
28 ehlers-danlos syndrome, arthrochalasia type, 2 10.3 COL1A2 COL1A1
29 goiter 10.3 IGF1 CALCA BGLAP
30 diffuse idiopathic skeletal hyperostosis 10.3 IGFBP3 IGF1 DKK1
31 carcinoid syndrome 10.3 IGF1 CALCA
32 thyroid gland disease 10.3 PTH IGF1 CALCA
33 norrie disease 10.3 WNT3A WNT1 LRP5
34 craniodiaphyseal dysplasia 10.3 SOST LRP5 DKK1
35 paget disease of bone 5, juvenile-onset 10.3 TNFSF11 CALCA
36 marasmus 10.3 IGFBP3 IGF1
37 achondroplasia 10.3 IGF1 COL1A1 BGLAP
38 osteitis fibrosa 10.3 PTH CALCA BGLAP
39 nontoxic goiter 10.3 PTH CALCA BGLAP
40 hypervitaminosis d 10.3 PTH GC CALCA
41 endemic goiter 10.3 PTH CALCA
42 central precocious puberty 10.3 IGFBP3 IGF1
43 nutritional deficiency disease 10.3 IGFBP3 IGF1 BGLAP
44 sclerosteosis 2 10.3 SOST LRP5
45 fasting hypoglycemia 10.3 IGF1 CD36
46 hypocalcemia, autosomal dominant 1 10.3 PTH CALCA BGLAP
47 pediatric osteosarcoma 10.3 MIR188 IGFBP3 IGF1
48 exostosis 10.3 SOST CALCA BGLAP
49 aneurysmal bone cysts 10.3 TNFSF11 CALCA
50 hypercalcemia, infantile, 1 10.3 PTH 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

Symptoms & Phenotypes for Osteoporosis, Juvenile

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®:

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

MGI Mouse Phenotypes related to Osteoporosis, Juvenile:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.27 BGLAP CD36 COL1A1 COL1A2 DKK1 IGF1
2 homeostasis/metabolism MP:0005376 10.27 BGLAP CD36 COL1A1 COL1A2 DKK1 GC
3 growth/size/body region MP:0005378 10.25 CD36 COL1A1 COL1A2 DKK1 IGF1 IGFBP3
4 endocrine/exocrine gland MP:0005379 10.2 BGLAP CD36 COL1A1 GC IGF1 IGFBP3
5 hematopoietic system MP:0005397 10.14 BGLAP CD36 COL1A1 COL1A2 IGF1 LRP5
6 craniofacial MP:0005382 10.13 COL1A1 DKK1 LRP5 PTH RUNX2 SPARC
7 limbs/digits/tail MP:0005371 10.07 COL1A1 COL1A2 DKK1 IGF1 IGFBP3 LRP5
8 immune system MP:0005387 10.06 BGLAP CD36 COL1A1 COL1A2 IGF1 LRP5
9 skeleton MP:0005390 9.89 BGLAP CD36 COL1A1 COL1A2 DKK1 GC
10 muscle MP:0005369 9.81 CD36 COL1A1 COL1A2 IGF1 IGFBP3 RUNX2
11 vision/eye MP:0005391 9.28 CD36 COL1A1 DKK1 IGFBP3 LRP5 PTH

Drugs & Therapeutics for Osteoporosis, Juvenile

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

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Teriparatide for the Treatment of Idiopathic Osteoporosis in Premenopausal Women Completed NCT00697463 Phase 2, Phase 3 Teriparatide (PTH 1-34)
2 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
3 Alendronate Versus Placebo for Idiopathic Juvenile Osteoporosis Completed NCT00001720 Phase 2 Alendronate
4 Randomized Controlled Trial of Teriparatide for the Treatment of Idiopathic Osteoporosis in Premenopausal Women Completed NCT01440803 Phase 2 Teriparatide;Saline Placebo
5 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
6 Bisphosphonates for Prevention of Post-Denosumab Bone Loss in Premenopausal Women With Idiopathic Osteoporosis Recruiting NCT03396315 Phase 2 Alendronate;Zoledronic Acid
7 Romosozumab for Premenopausal Idiopathic Osteoporosis Recruiting NCT04800367 Phase 2 Romosozumab Prefilled Syringe [Evenity];Denosumab 60 MG/ML Prefilled Syringe [Prolia]
8 Denosumab for Prevention of Post-Teriparatide Bone Loss in Premenopausal Women With Idiopathic Osteoporosis (IOP) Active, not recruiting NCT02049866 Phase 2 Denosumab
9 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)
10 Randomized Study of Human Parathyroid Hormone in Middle-Aged Men With Idiopathic Osteoporosis Completed NCT00004406 human parathyroid hormone

Search NIH Clinical Center for Osteoporosis, Juvenile

Genetic Tests for Osteoporosis, Juvenile

Genetic tests related to Osteoporosis, Juvenile:

# Genetic test Affiliating Genes
1 Idiopathic Juvenile Osteoporosis 29

Anatomical Context for Osteoporosis, Juvenile

MalaCards organs/tissues related to Osteoporosis, Juvenile:

40
Bone, Skin

Publications for Osteoporosis, Juvenile

Articles related to Osteoporosis, Juvenile:

(show top 50) (show all 125)
# Title Authors PMID Year
1
Effect of calcitonin replacement therapy in idiopathic juvenile osteoporosis. 61 57
3177335 1988
2
Calcitriol deficiency in idiopathic juvenile osteoporosis. 57 61
6896958 1982
3
Idiopathic juvenile osteoporosis. 57 61
314235 1979
4
IDIOPATHIC JUVENILE OSTEOPOROSIS. 57 61
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. 57
13879232 1962
8
Osteoporosis of unknown cause in younger people: idiopathic osteoporosis. 57
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
Do Bisphosphonates Alleviate Pain in Children? A Systematic Review. 61
32960409 2020
12
Novel PLS3 variants in X-linked osteoporosis: Exploring bone material properties. 61
29736964 2018
13
Primary osteoporosis in children. 61
28866630 2017
14
A Subtrochanteric Femoral Stress Fracture following Bisphosphonate Treatment in an Adolescent Girl. 61
27379824 2017
15
[Osteoporosis - epidemiology and pathogenesis]. 61
28124937 2016
16
Evidence of altered matrix composition in iliac crest biopsies from patients with idiopathic juvenile osteoporosis. 61
26539896 2016
17
The EULAR Outcome Measures Library: development and an example from a systematic review for systemic lupus erythematous instruments. 61
25797345 2015
18
Idiopathic Juvenile Osteoporosis: A Case Report. 61
26436063 2015
19
Idiopathic Juvenile Osteoporosis: Clinical Experience from a Single Centre and Screening of LRP5 and LRP6 Genes. 61
25783012 2015
20
Radiographic and MR Imaging Findings of the Spine after Bisphosphonate Treatment, in a Child with Idiopathic Juvenile Osteoporosis. 61
25688321 2015
21
Idiopathic juvenile osteoporosis: A case report and review of the literature. 61
25768278 2015
22
The risk of bisphosphonate-related osteonecrosis of the jaw in children. A case report and literature review. 61
24386765 2013
23
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
24
[Idiopathic juvenile osteoporosis]. 61
23490432 2013
25
Juvenile osteoporosis in a 5-year-old girl. 61
24082756 2013
26
Idiopathic juvenile osteoporosis: a cross-sectional single-centre experience with bone histomorphometry and quantitative computed tomography. 61
23418950 2013
27
Reduced proliferation and osteocalcin expression in osteoblasts of male idiopathic osteoporosis. 54
20101397 2010
28
Severe osteoporosis and high level TSH in a child before the diagnosis of acute lymphoblastic leukemia. 61
19636264 2009
29
Osteoporosis-pseudoglioma syndrome: description of 9 new cases and beneficial response to bisphosphonates. 54
18602879 2008
30
Vitamin D-binding protein gene microsatellite polymorphism influences BMD and risk of fractures in men. 54
18038108 2008
31
[Osteoporosis in children and adolescents]. 61
17395422 2007
32
Osteoblast dysfunction in male idiopathic osteoporosis. 54
16467976 2006
33
Assessment of vitamin D status in male osteoporosis. 54
16339300 2006
34
Idiopathic juvenile osteoporosis--an analysis of the muscle-bone relationship. 61
16951909 2006
35
How to manage osteoporosis in children. 61
16301193 2005
36
LRP5 gene polymorphisms and idiopathic osteoporosis in men. 54
16168727 2005
37
Bisphosphonate treatment of pediatric bone disease. 61
16361982 2005
38
Missense mutations in LRP5 are not a common cause of idiopathic osteoporosis in adult men. 54
16234968 2005
39
Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children. 54
15824851 2005
40
Idiopathic osteoporosis in premenopausal women. 54
15300364 2005
41
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
42
Effective parenteral clodronate treatment of a child with severe juvenile idiopathic osteoporosis. 61
15517381 2005
43
Three children with lower limb fractures and a mineralization defect: a novel bone fragility disorder? 61
15542026 2004
44
Calcitonin therapy in osteoporosis. 54
15743107 2004
45
Concentration of insulin-like growth factor (IGF)-I in iliac crest bone matrix in premenopausal women with idiopathic osteoporosis. 54
14758570 2004
46
Present and future pharmacotherapy for osteoporosis. 54
14566385 2003
47
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
48
The bone formation defect in idiopathic juvenile osteoporosis is surface-specific. 61
12110417 2002
49
Idiopathic juvenile osteoporosis. 61
11973603 2002
50
A randomized trial of nasal spray salmon calcitonin in men with idiopathic osteoporosis: effects on bone mineral density and bone markers. 54
11874243 2002

Variations for Osteoporosis, Juvenile

ClinVar genetic disease variations for Osteoporosis, Juvenile:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WNT1 NM_005430.4(WNT1):c.703C>T (p.Arg235Trp) SNV risk factor 50263 rs387907359 GRCh37: 12:49375013-49375013
GRCh38: 12:48981230-48981230
2 WNT1 NM_005430.4(WNT1):c.652T>G (p.Cys218Gly) SNV risk factor 50926 rs397514702 GRCh37: 12:49374962-49374962
GRCh38: 12:48981179-48981179
3 WNT1 NM_005430.4(WNT1):c.859dup (p.His287fs) Duplication risk factor 50257 rs387907353 GRCh37: 12:49375163-49375164
GRCh38: 12:48981380-48981381

Expression for Osteoporosis, Juvenile

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

Pathways for Osteoporosis, Juvenile

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

(show all 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.78 WNT3A WNT1 SOST LRP5 DKK1
2
Show member pathways
12.65 WNT3A WNT1 TNFSF11 LRP5 IGF1
3
Show member pathways
12.39 WNT3A WNT1 LRP5 IGF1
4 12.31 WNT3A WNT1 LRP5 DKK1
5
Show member pathways
12.31 WNT3A WNT1 PTH CALCA
6 12.2 WNT3A WNT1 IGF1 COL1A2 COL1A1
7 12.13 WNT3A SPARC LRP5 DKK1
8 12.1 WNT3A WNT1 SOST LRP5 DKK1
9 11.86 SPARC IGFBP3 IGF1 COL1A1
10
Show member pathways
11.84 SPARC COL1A2 COL1A1 CD36
11 11.76 TNFSF11 SOST RUNX2 PTH LRP5 BGLAP
12 11.64 WNT1 LRP5 DKK1
13 11.61 SPARC RUNX2 PTH IGFBP3 IGF1 BGLAP
14 11.56 RUNX2 PTH IGF1
15 11.54 SPARC IGF1 COL1A2 COL1A1
16 11.46 WNT3A IGF1 DKK1
17 11.43 COL1A2 COL1A1 CD36
18 11.4 WNT3A WNT1 TNFSF11 IGF1 DKK1
19 11.18 WNT3A WNT1 LRP5 DKK1
20 11.07 WNT1 LRP5 DKK1
21
Show member pathways
11.03 WNT3A SOST LRP5 DKK1
22 11.02 TNFSF11 RUNX2 PTH COL1A2 COL1A1 BGLAP
23 10.82 TNFSF11 PTH COL1A1 BGLAP
24 10.82 TNFSF11 RUNX2 PTH IGF1 COL1A1 CALCA
25 10.6 PTH GC

GO Terms for Osteoporosis, Juvenile

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.8 WNT3A WNT1 TNFSF11 SPARC 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 SPARC SOST PTH
7 platelet alpha granule membrane GO:0031092 9.49 SPARC CD36
8 insulin-like growth factor ternary complex GO:0042567 9.4 IGFBP3 IGF1
9 Wnt-Frizzled-LRP5/6 complex GO:1990851 9.37 WNT3A LRP5
10 insulin-like growth factor binding protein complex GO:0016942 9.32 IGFBP3 IGF1
11 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 10.1 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 transcription, DNA-templated GO:0045893 9.98 WNT3A WNT1 SOST RUNX2 LRP5 IGF1
4 positive regulation of gene expression GO:0010628 9.97 WNT3A TNFSF11 RUNX2 IGF1 DKK1 CD36
5 extracellular matrix organization GO:0030198 9.93 WNT3A SPARC COL1A2 COL1A1
6 Wnt signaling pathway GO:0016055 9.85 WNT3A WNT1 SOST LRP5 DKK1
7 platelet activation GO:0030168 9.83 WNT3A COL1A2 COL1A1
8 wound healing GO:0042060 9.82 SPARC IGF1 COL1A1
9 response to nutrient levels GO:0031667 9.79 PTH COL1A1 BGLAP
10 positive regulation of DNA-binding transcription factor activity GO:0051091 9.78 WNT3A WNT1 TNFSF11 LRP5
11 positive regulation of osteoblast differentiation GO:0045669 9.77 RUNX2 LRP5 IGF1
12 canonical Wnt signaling pathway GO:0060070 9.77 WNT3A WNT1 LRP5
13 regulation of blood pressure GO:0008217 9.76 LRP5 COL1A2 CALCA
14 response to mechanical stimulus GO:0009612 9.75 SOST COL1A1 BGLAP
15 response to peptide hormone GO:0043434 9.74 SPARC LRP5 COL1A1
16 osteoblast differentiation GO:0001649 9.65 WNT3A RUNX2 IGFBP3 COL1A1 BGLAP
17 positive regulation of glycogen biosynthetic process GO:0045725 9.64 PTH IGF1
18 regulation of osteoclast differentiation GO:0045670 9.64 TNFSF11 BGLAP
19 skeletal system development GO:0001501 9.63 RUNX2 PTH IGF1 COL1A2 COL1A1 BGLAP
20 spinal cord association neuron differentiation GO:0021527 9.62 WNT3A WNT1
21 skin morphogenesis GO:0043589 9.62 COL1A2 COL1A1
22 response to gravity GO:0009629 9.61 SPARC BGLAP
23 negative regulation of ossification GO:0030279 9.58 SOST DKK1 CALCA
24 tooth eruption GO:0044691 9.55 TNFSF11 COL1A1
25 Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation GO:1904953 9.54 WNT3A WNT1
26 osteoblast development GO:0002076 9.54 RUNX2 LRP5 BGLAP
27 cell proliferation in midbrain GO:0033278 9.52 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 ossification GO:0001503 9.1 TNFSF11 SPARC SOST RUNX2 COL1A1 BGLAP

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 9.16 WNT3A DKK1
2 platelet-derived growth factor binding GO:0048407 8.96 COL1A2 COL1A1
3 receptor ligand activity GO:0048018 8.8 WNT3A WNT1 PTH

Sources for Osteoporosis, Juvenile

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
Content
Loading form....