MCID: JVN025
MIFTS: 21

Juvenile Primary Osteoporosis

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Juvenile Primary Osteoporosis

MalaCards integrated aliases for Juvenile Primary Osteoporosis:

Name: Juvenile Primary Osteoporosis 42 71
Childhood-Onset Primary Osteoporosis 42
Idiopathic Juvenile Osteoporosis 42
Juvenile Osteoporosis 71

Classifications:



External Ids:

UMLS 71 C0264080 C3711559

Summaries for Juvenile Primary Osteoporosis

MedlinePlus Genetics: 42 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 Alendronic acid and Calcium carbonate have been mentioned in the context of this disorder. Affiliated tissues include bone and skin.

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 18)
# 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 brittle bone disorder 10.2
7 osteogenesis imperfecta, type i 10.1
8 osteogenesis imperfecta, type vi 10.1
9 hyperparathyroidism 10.1
10 down syndrome 9.9
11 osteogenesis imperfecta, type iii 9.9
12 bone mineral density quantitative trait locus 16 9.9
13 scoliosis 9.9
14 conn's syndrome 9.9
15 secondary hyperparathyroidism 9.9
16 ehlers-danlos syndrome 9.9
17 47 xxx syndrome 9.9
18 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 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Alendronic acid Approved Phase 2 121268-17-5, 66376-36-1 2088
2
Calcium carbonate Approved, Investigational Phase 2 471-34-1
3
Cholecalciferol Approved, Nutraceutical, Vet_approved Phase 2 67-97-0, 1406-16-2 5280795 10883523
4
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
5 glucocorticoids Phase 2
6 Diphosphonates Phase 2
7 Vitamins Phase 2
8
Vitamin D2 Phase 2 3249
9 Calciferol Phase 2
10 Ergocalciferols Phase 2
11 Calcium, Dietary Phase 2
12
Calcium Nutraceutical Phase 2 7440-70-2 271

Interventional clinical trials:


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

Organs/tissues related to Juvenile Primary Osteoporosis:

MalaCards : Bone, Skin

Publications for Juvenile Primary Osteoporosis

Articles related to Juvenile Primary Osteoporosis:

(show top 50) (show all 97)
# Title Authors PMID Year
1
Idiopathic juvenile osteoporosis in a child: a four-year follow-up with review of literature. 62
34331423 2021
2
Progressive idiopathic juvenile osteoporosis in pregnancy: A case report of two successive pregnancies in the same woman. 62
34040998 2021
3
Efficacy and safety of intravenous pamidronate infusion for treating osteoporosis in children and adolescents. 62
34218632 2021
4
Do Bisphosphonates Alleviate Pain in Children? A Systematic Review. 62
32960409 2020
5
Novel PLS3 variants in X-linked osteoporosis: Exploring bone material properties. 62
29736964 2018
6
PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization. 62
28777485 2017
7
PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants. 62
28748388 2017
8
Primary osteoporosis in children. 62
28866630 2017
9
A Subtrochanteric Femoral Stress Fracture following Bisphosphonate Treatment in an Adolescent Girl. 62
27379824 2017
10
Abnormal Proteoglycan Synthesis Due to Gene Defects Causes Skeletal Diseases with Overlapping Phenotypes. 62
27871115 2016
11
[Osteoporosis - epidemiology and pathogenesis]. 62
28124937 2016
12
Evidence of altered matrix composition in iliac crest biopsies from patients with idiopathic juvenile osteoporosis. 62
26539896 2016
13
Idiopathic Juvenile Osteoporosis: A Case Report. 62
26436063 2015
14
Idiopathic Juvenile Osteoporosis: Clinical Experience from a Single Centre and Screening of LRP5 and LRP6 Genes. 62
25783012 2015
15
Radiographic and MR Imaging Findings of the Spine after Bisphosphonate Treatment, in a Child with Idiopathic Juvenile Osteoporosis. 62
25688321 2015
16
Idiopathic juvenile osteoporosis: A case report and review of the literature. 62
25768278 2015
17
New Genetic Forms of Childhood-Onset Primary Osteoporosis. 62
26517534 2015
18
The risk of bisphosphonate-related osteonecrosis of the jaw in children. A case report and literature review. 62
24386765 2013
19
[Idiopathic juvenile osteoporosis]. 62
23490432 2013
20
Pamidronate treatment stimulates the onset of recovery phase reducing fracture rate and skeletal deformities in patients with idiopathic juvenile osteoporosis: comparison with untreated patients. 62
23549954 2013
21
Causes, mechanisms and management of paediatric osteoporosis. 62
23591487 2013
22
Juvenile osteoporosis in a 5-year-old girl. 62
24082756 2013
23
Idiopathic juvenile osteoporosis: a cross-sectional single-centre experience with bone histomorphometry and quantitative computed tomography. 62
23418950 2013
24
Rare variations in WNT3A and DKK1 may predispose carriers to primary osteoporosis. 62
22789636 2012
25
Calvarial doughnut lesions and osteoporosis: a new three-generation family and review. 62
19839042 2009
26
Severe osteoporosis and high level TSH in a child before the diagnosis of acute lymphoblastic leukemia. 62
19636264 2009
27
Idiopathic juvenile osteoporosis--an analysis of the muscle-bone relationship. 62
16951909 2006
28
Bisphosphonate treatment of pediatric bone disease. 62
16361982 2005
29
How to manage osteoporosis in children. 62
16301193 2005
30
Effective parenteral clodronate treatment of a child with severe juvenile idiopathic osteoporosis. 62
15517381 2005
31
Three children with lower limb fractures and a mineralization defect: a novel bone fragility disorder? 62
15542026 2004
32
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. 62
12700367 2003
33
The bone formation defect in idiopathic juvenile osteoporosis is surface-specific. 62
12110417 2002
34
Idiopathic juvenile osteoporosis. 62
11973603 2002
35
Use of bisphosphonates in children and adolescents. 62
12199351 2002
36
Osteoporosis in children and adolescent girls: case report of idiopathic juvenile osteoporosis and review of the literature. 62
11496161 2001
37
Clinical evaluation of patients with idiopathic juvenile osteoporosis. 62
11497372 2001
38
Just taller or more bone? The impact of growth hormone on osteogenesis imperfecta and idiopathic juvenile osteoporosis. 62
11086654 2000
39
Deficient bone formation in idiopathic juvenile osteoporosis: a histomorphometric study of cancellous iliac bone. 62
10804027 2000
40
[Clinical observation of osteoporosis in adolescents]. 62
10907348 2000
41
Idiopathic juvenile osteoporosis. 62
10818429 2000
42
[Osteoporosis in children]. 62
10907357 2000
43
[Idiopathic juvenile osteoporosis: a new observation]. 62
10472398 1999
44
Difficulty walking. A presentation of idiopathic juvenile osteoporosis. 62
9458225 1998
45
How do we manage specific types of osteoporosis? 62
9367039 1997
46
Collagen peptides in osteogenesis imperfecta, idiopathic juvenile osteoporosis and Ehlers--Danlos syndrome. 62
8816205 1996
47
Idiopathic juvenile osteoporosis. An unusual cause of back pain in an adolescent. 62
8581446 1995
48
Type I collagen biosynthesis by skin fibroblasts from patients with idiopathic juvenile osteoporosis. 62
7671570 1995
49
Idiopathic juvenile osteoporosis: five-year case follow-up. 62
7613264 1995
50
Estrogen and diclofenac sodium therapy in a prepubertal female with idiopathic juvenile osteoporosis. 62
7584708 1995

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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