MCID: JVN025
MIFTS: 21

Juvenile Primary Osteoporosis

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

Aliases & Classifications for Juvenile Primary Osteoporosis

MalaCards integrated aliases for Juvenile Primary Osteoporosis:

Name: Juvenile Primary Osteoporosis 43 70
Childhood-Onset Primary Osteoporosis 43
Idiopathic Juvenile Osteoporosis 43
Juvenile Osteoporosis 70

Classifications:



External Ids:

UMLS 70 C0264080 C3711559

Summaries for Juvenile Primary Osteoporosis

MedlinePlus Genetics : 43 Juvenile primary osteoporosis is a skeletal disorder characterized by thinning of the bones (osteoporosis) that begins in childhood. Osteoporosis is caused by a shortage of calcium and other minerals in bones (decreased bone mineral density), which makes the bones brittle and prone to fracture. Affected individuals often have multiple fractures in the long bones of the arms and legs, especially in the regions where new bone forms (metaphyses). They also have fractures in the bones that form the spine (vertebrae), which can cause collapse of the affected vertebrae (compressed vertebrae). Multiple fractures can cause bone pain and lead to movement problems.

MalaCards based summary : Juvenile Primary Osteoporosis, also known as childhood-onset primary osteoporosis, is related to osteoporosis, juvenile and osteoporosis. The drugs Alendronate and Calcium carbonate have been mentioned in the context of this disorder. Affiliated tissues include bone.

Related Diseases for Juvenile Primary Osteoporosis

Diseases in the Osteoporosis family:

Osteoporosis, Juvenile Juvenile Primary Osteoporosis
Lrp5-Related Primary Osteoporosis

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

(show all 15)
# Related Disease Score Top Affiliating Genes
1 osteoporosis, juvenile 11.9
2 osteoporosis 10.8
3 bone mineral density quantitative trait locus 8 10.8
4 bone mineral density quantitative trait locus 15 10.8
5 bone disease 10.4
6 bone resorption disease 10.4
7 brittle bone disorder 10.2
8 osteogenesis imperfecta, type i 10.1
9 hyperparathyroidism 10.1
10 osteogenesis imperfecta, type iii 9.9
11 scoliosis 9.9
12 secondary hyperparathyroidism 9.9
13 ehlers-danlos syndrome 9.9
14 47,xyy 9.9
15 back pain 9.9

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



Diseases related to Juvenile Primary Osteoporosis

Symptoms & Phenotypes for Juvenile Primary Osteoporosis

Drugs & Therapeutics for Juvenile Primary Osteoporosis

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

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Alendronate Approved Phase 2 121268-17-5, 66376-36-1 2088
2
Calcium carbonate Approved, Investigational Phase 2 471-34-1
3
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
4
Vitamin D3 Approved, Nutraceutical Phase 2 67-97-0 6221 5280795
5
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
6 Calcium Supplement Phase 2
7 Calcium, Dietary Phase 2
8 Diphosphonates Phase 2
9 glucocorticoids Phase 2
10 Vitamin D2 Phase 2
11 Ergocalciferols Phase 2
12 Vitamins Phase 2
13 Calciferol Phase 2
14
Calcium Nutraceutical Phase 2 7440-70-2 271

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 Alendronate Versus Placebo for Idiopathic Juvenile Osteoporosis Completed NCT00001720 Phase 2 Alendronate
3 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
4 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)

Search NIH Clinical Center for Juvenile Primary Osteoporosis

Genetic Tests for Juvenile Primary Osteoporosis

Anatomical Context for Juvenile Primary Osteoporosis

MalaCards organs/tissues related to Juvenile Primary Osteoporosis:

40
Bone

Publications for Juvenile Primary Osteoporosis

Articles related to Juvenile Primary Osteoporosis:

(show top 50) (show all 131)
# Title Authors PMID Year
1
Hajdu Cheney Syndrome due to NOTCH2 defect - First case report from Pakistan and review of literature. 61
33520214 2021
2
Do Bisphosphonates Alleviate Pain in Children? A Systematic Review. 61
32960409 2020
3
Siglec-15-targeting therapy protects against glucocorticoid-induced osteoporosis of growing skeleton in juvenile rats. 61
32217159 2020
4
Juvenile osteoporosis with calvarial doughnuts: Progressive high-turnover bone loss responsive to bisphosphonate therapy. 61
31678657 2020
5
Osteoporosis-pseudoglioma syndrome: clinical, genetic, and treatment-response study of 10 new cases in Greece. 61
30499050 2019
6
Siglec-15-targeting therapy increases bone mass in rats without impairing skeletal growth. 61
30076992 2018
7
Novel PLS3 variants in X-linked osteoporosis: Exploring bone material properties. 61
29736964 2018
8
Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy. 61
28676440 2017
9
Primary osteoporosis in children. 61
28866630 2017
10
A Subtrochanteric Femoral Stress Fracture following Bisphosphonate Treatment in an Adolescent Girl. 61
27379824 2017
11
Atypical femur fracture in an adolescent boy treated with bisphosphonates for X-linked osteoporosis based on PLS3 mutation. 61
27477003 2016
12
Genetic control of bone mass. 61
26747728 2016
13
Potential blindness in children of patients with hereditary bone disease. 61
26243358 2016
14
Osteoporosis-Pseudoglioma in a Mauritanian Child due to a Novel Mutation in LRP5. 61
26904320 2016
15
Evidence of altered matrix composition in iliac crest biopsies from patients with idiopathic juvenile osteoporosis. 61
26539896 2016
16
[Osteoporosis - epidemiology and pathogenesis]. 61
28124937 2016
17
Effect of alendronate on the mandible and long bones: an experimental study in vivo. 61
26331769 2015
18
A look behind the scenes: the risk and pathogenesis of primary osteoporosis. 61
25900210 2015
19
Idiopathic Juvenile Osteoporosis: A Case Report. 61
26436063 2015
20
Idiopathic Juvenile Osteoporosis: Clinical Experience from a Single Centre and Screening of LRP5 and LRP6 Genes. 61
25783012 2015
21
Idiopathic juvenile osteoporosis: A case report and review of the literature. 61
25768278 2015
22
Radiographic and MR Imaging Findings of the Spine after Bisphosphonate Treatment, in a Child with Idiopathic Juvenile Osteoporosis. 61
25688321 2015
23
Whole-exome sequencing reveals a heterozygous LRP5 mutation in a 6-year-old boy with vertebral compression fractures and low trabecular bone density. 61
23886840 2013
24
The risk of bisphosphonate-related osteonecrosis of the jaw in children. A case report and literature review. 61
24386765 2013
25
[Idiopathic juvenile osteoporosis]. 61
23490432 2013
26
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
27
Juvenile osteoporosis in a 5-year-old girl. 61
24082756 2013
28
Idiopathic juvenile osteoporosis: a cross-sectional single-centre experience with bone histomorphometry and quantitative computed tomography. 61
23418950 2013
29
Case history of juvenile osteoporosis associated with LRP5 abnormality. 61
24422159 2013
30
Osteoporosis-pseudoglioma syndrome: three novel mutations in the LRP5 gene and response to bisphosphonate treatment. 61
22456437 2012
31
Effects of risedronate in Runx2 overexpressing mice, an animal model for evaluation of treatment effects on bone quality and fractures. 61
21455736 2011
32
Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray. 61
20034086 2010
33
Severe osteoporosis and high level TSH in a child before the diagnosis of acute lymphoblastic leukemia. 61
19636264 2009
34
Osteoporosis-pseudoglioma syndrome: description of 9 new cases and beneficial response to bisphosphonates. 61
18602879 2008
35
[Juvenile osteoporosis]. 61
18329256 2008
36
[One- and two-stage procedure for revision after failure of anterior cruciate ligament reconstruction]. 61
18072036 2007
37
[Bone mineral density in children and adolescents with idiopathic chronic musculoskeletal pain syndromes]. 61
17405294 2006
38
[Back pain and dorsal kyphosis in childhood]. 61
17058388 2006
39
Idiopathic juvenile osteoporosis--an analysis of the muscle-bone relationship. 61
16951909 2006
40
How to manage osteoporosis in children. 61
16301193 2005
41
Bisphosphonate treatment of pediatric bone disease. 61
16361982 2005
42
Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children. 61
15824851 2005
43
[Diagnosis and treatment of juvenile osteoporosis]. 61
15885552 2005
44
Effective parenteral clodronate treatment of a child with severe juvenile idiopathic osteoporosis. 61
15517381 2005
45
Three children with lower limb fractures and a mineralization defect: a novel bone fragility disorder? 61
15542026 2004
46
[Wnt/LRP5, a new regulation osteoblastic pathway involved in reaching peak bone masses]. 61
15095618 2004
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
Juvenile osteoporosis: recognizing the risk. 61
12795371 2003
49
The bone formation defect in idiopathic juvenile osteoporosis is surface-specific. 61
12110417 2002
50
Dissociation of angiogenesis and osteoclastogenesis during endochondral bone formation in neonatal mice. 61
12054176 2002

Variations for Juvenile Primary Osteoporosis

Expression for Juvenile Primary Osteoporosis

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

Pathways for Juvenile Primary Osteoporosis

GO Terms for Juvenile Primary Osteoporosis

Sources for Juvenile Primary Osteoporosis

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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