MCID: OST164
MIFTS: 53

Osteoporosis, Juvenile

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

Aliases & Classifications for Osteoporosis, Juvenile

MalaCards integrated aliases for Osteoporosis, Juvenile:

Name: Osteoporosis, Juvenile 57 53
Idiopathic Juvenile Osteoporosis 57 12 76 53 59 29 55 15
Juvenile Osteoporosis 12 53 59 73
Idiopathic Osteoporosis 12 55 73
Ijo 57 53 59
Idiopathic Juvenile Osteoporosis; Ijo 57

Characteristics:

Orphanet epidemiological data:

59
idiopathic juvenile osteoporosis
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
osteoporosis, juvenile:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 259750
Disease Ontology 12 DOID:12559
ICD9CM 35 733.02
SNOMED-CT 68 3345002
Orphanet 59 ORPHA85193
ICD10 via Orphanet 34 M81.5
UMLS via Orphanet 74 C0264080
MedGen 42 C0264080
ICD10 33 M80.5 M81.5

Summaries for Osteoporosis, Juvenile

NIH Rare Diseases : 53 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 osteoporosis and juvenile primary osteoporosis. An important gene associated with Osteoporosis, Juvenile is LRP5 (LDL Receptor Related Protein 5), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Signaling by Wnt. The drugs Ergocalciferol and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and skin, and related phenotypes are osteoporosis and gait disturbance

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

Description 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 all 38)
# Related Disease Score Top Affiliating Genes
1 osteoporosis 25.1 BGLAP CALCA COL1A1 DKK1 GC IGF1
2 juvenile primary osteoporosis 11.2
3 hypotrichosis simplex 10.5 LRP5 WNT3A
4 peroneal nerve paralysis 10.5 CALCA LRP5
5 van buchem disease 10.4 COL1A1 LRP5
6 camurati-engelmann disease 10.3 BGLAP LRP5
7 sclerosteosis 10.3 COL1A1 LRP5
8 osteogenesis imperfecta, type iv 10.3 COL1A1 WNT1
9 bone fracture 10.3 BGLAP LRP5
10 osteitis fibrosa 10.2 BGLAP CALCA
11 nontoxic goiter 10.2 BGLAP CALCA
12 hypophosphatasia, adult 10.2 BGLAP CALCA
13 secondary hyperparathyroidism of renal origin 10.2 BGLAP CALCA
14 parathyroid gland disease 10.2 BGLAP CALCA
15 osteogenesis imperfecta, type vi 10.1 COL1A1 WNT3A
16 bruck syndrome 10.1 COL1A1 WNT1
17 bone mineral density quantitative trait locus 18 10.1
18 carcinoid syndrome 10.1 CALCA IGF1
19 renal osteodystrophy 10.1 BGLAP CALCA
20 insulin-like growth factor i 9.9
21 hemiplegia 9.8 BGLAP CALCA
22 osteogenesis imperfecta, type iii 9.8 BGLAP COL1A1 WNT1
23 thyroid gland disease 9.8 CALCA IGF1
24 mccune-albright syndrome 9.8 BGLAP IGF1
25 hyperostosis 9.7 COL1A1 IGF1 LRP5
26 osteomalacia 9.7 BGLAP CALCA
27 craniodiaphyseal dysplasia 9.7 CALCA LRP5 WNT1 WNT3A
28 brittle bone disorder 9.6
29 purpura 9.6
30 thyroiditis 9.6
31 fibrous dysplasia 9.5 BGLAP CALCA IGF1
32 chronic kidney failure 9.5 BGLAP CALCA IGF1
33 retinal vascular disease 9.5 IGF1 LRP5
34 bone remodeling disease 9.2 BGLAP CALCA IGF1 LRP5
35 glucocorticoid-induced osteoporosis 9.2 BGLAP CALCA DKK1 IGF1
36 osteogenesis imperfecta, type i 8.9 BGLAP COL1A1 IGF1 PLS3
37 bone resorption disease 8.3 BGLAP CALCA COL1A1 DKK1 IGF1 LRP5
38 bone disease 8.3 BGLAP CALCA COL1A1 DKK1 IGF1 LRP5

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

Symptoms via clinical synopsis from OMIM:

57
Eyes:
normal sclerae

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

GU:
normal renal function

Misc:
healing with sexual maturation


Clinical features from OMIM:

259750

Human phenotypes related to Osteoporosis, Juvenile:

59 32 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoporosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000939
2 gait disturbance 59 32 frequent (33%) Frequent (79-30%) HP:0001288
3 bone pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002653
4 recurrent fractures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002757
5 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
6 vertebral compression fractures 59 32 frequent (33%) Frequent (79-30%) HP:0002953
7 low serum calcitriol 32 HP:0012052

MGI Mouse Phenotypes related to Osteoporosis, Juvenile:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.72 COL1A1 DKK1 LRP5 WNT1 WNT3A
2 hearing/vestibular/ear MP:0005377 9.56 COL1A1 IGF1 WNT1 WNT3A
3 limbs/digits/tail MP:0005371 9.55 WNT3A COL1A1 DKK1 IGF1 LRP5
4 respiratory system MP:0005388 9.35 COL1A1 DKK1 IGF1 WNT1 WNT3A
5 skeleton MP:0005390 9.23 COL1A1 DKK1 GC IGF1 LRP5 PLS3

Drugs & Therapeutics for Osteoporosis, Juvenile

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

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ergocalciferol Approved, Nutraceutical Phase 3,Phase 2 50-14-6 5280793
2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 1406-16-2
3
Vitamin D3 Approved, Nutraceutical Phase 3,Phase 2 67-97-0 6221 5280795
4 Bone Density Conservation Agents Phase 3,Phase 2
5 Calcium, Dietary Phase 3,Phase 2
6 Ergocalciferols Phase 3,Phase 2
7 Hormone Antagonists Phase 3
8 Hormones Phase 3
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
10 Micronutrients Phase 3,Phase 2
11 Trace Elements Phase 3,Phase 2
12 Vitamins Phase 3,Phase 2
13 Calciferol Nutraceutical Phase 3,Phase 2
14 Vitamin D2 Nutraceutical Phase 3,Phase 2
15
Alendronate Approved Phase 2 121268-17-5, 66376-36-1 2088
16
Calcium Carbonate Approved, Investigational Phase 2 471-34-1
17 Diphosphonates Phase 2
18 glucocorticoids Phase 2
19 Calcium Supplement Nutraceutical Phase 2
20
Pamidronate Approved Not Applicable 40391-99-9 4674

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Growth Hormone Therapy and Bone Quality in Pediatric Osteoporosis Unknown status NCT00757393 Phase 3 Vitamin D + Calcium + Exercise program + Humatrope
2 Phase II Study of Alendronate Sodium in Children With High-Turnover Idiopathic Juvenile Osteoporosis Completed NCT00010439 Phase 2 Alendronate
3 Safety and Efficacy of Alendronate (Fosamax) in Children With Osteoporosis Completed NCT00259857 Phase 2 Alendronate
4 Treatment of Childhood Osteoporosis With Alendronate (Fosamax) Completed NCT00001720 Phase 2 Alendronate
5 Alendronate in Juvenile Osteoporosis Completed NCT00920075 Alendronate (Fosamax)
6 The Influence of Bisphosphonates in the Oral Cavity in Children Completed NCT00402064
7 Prevention of Post Operative Bone Loss in Children Completed NCT00655681 Not Applicable pamidronate

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:

41
Bone, Testes, Skin

Publications for Osteoporosis, Juvenile

Articles related to Osteoporosis, Juvenile:

(show all 40)
# Title Authors Year
1
Radiographic and MR Imaging Findings of the Spine after Bisphosphonate Treatment, in a Child with Idiopathic Juvenile Osteoporosis. ( 25688321 )
2015
2
Idiopathic juvenile osteoporosis: A case report and review of the literature. ( 25768278 )
2015
3
Evidence of Altered Matrix Composition in Iliac Crest Biopsies from Patients with Idiopathic Juvenile Osteoporosis. ( 26539896 )
2015
4
Idiopathic Juvenile Osteoporosis: Clinical Experience from a Single Centre and Screening of LRP5 and LRP6 Genes. ( 25783012 )
2015
5
Idiopathic Juvenile Osteoporosis: A Case Report. ( 26436063 )
2015
6
Pamidronate treatment stimulates the onset of recovery phase reducing fracture rate and skeletal deformities in patients with idiopathic juvenile osteoporosis: comparison with untreated patients. ( 23549954 )
2013
7
Idiopathic juvenile osteoporosis: a cross-sectional single-centre experience with bone histomorphometry and quantitative computed tomography. ( 23418950 )
2013
8
Idiopathic juvenile osteoporosis--an analysis of the muscle-bone relationship. ( 16951909 )
2006
9
The bone formation defect in idiopathic juvenile osteoporosis is surface-specific. ( 12110417 )
2002
10
Idiopathic juvenile osteoporosis. ( 11973603 )
2002
11
Osteoporosis in children and adolescent girls: case report of idiopathic juvenile osteoporosis and review of the literature. ( 11496161 )
2001
12
Clinical evaluation of patients with idiopathic juvenile osteoporosis. ( 11497372 )
2001
13
Deficient bone formation in idiopathic juvenile osteoporosis: a histomorphometric study of cancellous iliac bone. ( 10804027 )
2000
14
Idiopathic juvenile osteoporosis. ( 10818429 )
2000
15
Just taller or more bone? The impact of growth hormone on osteogenesis imperfecta and idiopathic juvenile osteoporosis. ( 11086654 )
2000
16
Difficulty walking. A presentation of idiopathic juvenile osteoporosis. ( 9458225 )
1998
17
Collagen peptides in osteogenesis imperfecta, idiopathic juvenile osteoporosis and Ehlers--Danlos syndrome. ( 8816205 )
1996
18
Idiopathic juvenile osteoporosis: experience of twenty-one patients. ( 7881843 )
1995
19
Idiopathic juvenile osteoporosis: five-year case follow-up. ( 7613264 )
1995
20
Fracture of the humerus in ball throwers. A consequence of idiopathic juvenile osteoporosis in a female handball player? ( 7882130 )
1995
21
Idiopathic juvenile osteoporosis. An unusual cause of back pain in an adolescent. ( 8581446 )
1995
22
Case report: effect of pregnancy on idiopathic juvenile osteoporosis. ( 7900745 )
1995
23
Type I collagen biosynthesis by skin fibroblasts from patients with idiopathic juvenile osteoporosis. ( 7671570 )
1995
24
Estrogen and diclofenac sodium therapy in a prepubertal female with idiopathic juvenile osteoporosis. ( 7584708 )
1995
25
Idiopathic juvenile osteoporosis. ( 8434248 )
1993
26
Idiopathic juvenile osteoporosis: evidence of normal osteoblast function by 1,25-dihydroxyvitamin D3 stimulation test. ( 1393771 )
1992
27
Mineral metabolism and calcitriol therapy in idiopathic juvenile osteoporosis. ( 2012031 )
1991
28
Effect of calcitonin replacement therapy in idiopathic juvenile osteoporosis. ( 3177335 )
1988
29
Bone metabolism in idiopathic juvenile osteoporosis: a case report. ( 6839191 )
1983
30
Calcitriol deficiency in idiopathic juvenile osteoporosis. ( 6896958 )
1982
31
Idiopathic juvenile osteoporosis and scoliosis. ( 7130387 )
1982
32
Spinal deformity in idiopathic juvenile osteoporosis. ( 7209670 )
1981
33
Idiopathic juvenile osteoporosis. ( 6784514 )
1981
34
Idiopathic juvenile osteoporosis. ( 474538 )
1979
35
Idiopathic juvenile osteoporosis. ( 314235 )
1979
36
A case-report of idiopathic juvenile osteoporosis with particular reference to 47-calcium absorption. ( 891571 )
1977
37
Idiopathic juvenile osteoporosis. ( 5459928 )
1970
38
Idiopathic juvenile osteoporosis. ( 5363391 )
1969
39
Idiopathic juvenile osteoporosis: report of a case and review of the literature. ( 4908113 )
1969
40
IDIOPATHIC JUVENILE OSTEOPOROSIS. ( 14319616 )
1965

Variations for Osteoporosis, Juvenile

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 31)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.76 COL1A1 IGF1 WNT1 WNT3A
2
Show member pathways
12.67 DKK1 LRP5 WNT1 WNT3A
3 12.62 IGF1 LRP5 WNT1 WNT3A
4
Show member pathways
12.53 IGF1 LRP5 WNT1 WNT3A
5
Show member pathways
12.31 DKK1 LRP5 WNT1 WNT3A
6
Show member pathways
12.27 DKK1 WNT1 WNT3A
7
Show member pathways
12.27 DKK1 LRP5 WNT1 WNT3A
8
Show member pathways
12.22 IGF1 LRP5 WNT1 WNT3A
9
Show member pathways
12.21 CALCA WNT1 WNT3A
10 12.1 IGF1 WNT1 WNT3A
11 12.04 DKK1 LRP5 WNT3A
12 11.98 LRP5 WNT1 WNT3A
13
Show member pathways
11.96 IGF1 LRP5 WNT3A
14
Show member pathways
11.91 IGF1 WNT1 WNT3A
15 11.87 IGF1 WNT1 WNT3A
16
Show member pathways
11.85 DKK1 LRP5 WNT1 WNT3A
17 11.84 DKK1 IGF1 WNT3A
18
Show member pathways
11.74 DKK1 LRP5 WNT1 WNT3A
19 11.48 DKK1 LRP5 WNT1
20 11.43 DKK1 LRP5 WNT1
21
Show member pathways
11.39 WNT1 WNT3A
22 11.3 DKK1 WNT1
23 11.3 DKK1 IGF1 WNT3A
24 11.22 BGLAP COL1A1
25 11.14 DKK1 IGF1 WNT1 WNT3A
26
Show member pathways
11.11 LRP5 WNT3A
27 10.91 BGLAP CALCA COL1A1 IGF1
28 10.88 DKK1 LRP5 WNT1
29
Show member pathways
10.76 DKK1 LRP5 WNT3A
30 10.67 BGLAP COL1A1
31 10.37 DKK1 LRP5 WNT1 WNT3A

GO Terms for Osteoporosis, Juvenile

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.56 BGLAP COL1A1 WNT1 WNT3A
2 extracellular region GO:0005576 9.56 BGLAP CALCA COL1A1 DKK1 GC IGF1
3 Golgi lumen GO:0005796 9.5 BGLAP WNT1 WNT3A
4 extracellular space GO:0005615 9.23 BGLAP CALCA COL1A1 DKK1 GC IGF1
5 Wnt-Frizzled-LRP5/6 complex GO:1990851 9.16 LRP5 WNT3A

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.89 IGF1 LRP5 WNT1 WNT3A
2 positive regulation of transcription, DNA-templated GO:0045893 9.8 COL1A1 IGF1 LRP5 WNT1 WNT3A
3 skeletal system development GO:0001501 9.75 BGLAP COL1A1 IGF1
4 positive regulation of canonical Wnt signaling pathway GO:0090263 9.73 COL1A1 WNT1 WNT3A
5 positive regulation of DNA binding transcription factor activity GO:0051091 9.69 LRP5 WNT1 WNT3A
6 osteoblast differentiation GO:0001649 9.67 BGLAP COL1A1 WNT3A
7 canonical Wnt signaling pathway GO:0060070 9.65 LRP5 WNT1 WNT3A
8 positive regulation of fibroblast proliferation GO:0048146 9.64 IGF1 WNT1
9 negative regulation of BMP signaling pathway GO:0030514 9.63 DKK1 WNT1
10 response to heat GO:0009408 9.63 CALCA IGF1
11 negative regulation of fat cell differentiation GO:0045599 9.62 WNT1 WNT3A
12 midbrain development GO:0030901 9.62 WNT1 WNT3A
13 Wnt signaling pathway GO:0016055 9.62 DKK1 LRP5 WNT1 WNT3A
14 face morphogenesis GO:0060325 9.61 COL1A1 DKK1
15 positive regulation of mitotic nuclear division GO:0045840 9.61 IGF1 LRP5
16 vasculature development GO:0001944 9.6 CALCA LRP5
17 negative regulation of ossification GO:0030279 9.58 CALCA DKK1
18 osteoblast development GO:0002076 9.57 BGLAP LRP5
19 negative regulation of cell-substrate adhesion GO:0010812 9.55 COL1A1 WNT1
20 regulation of signaling receptor activity GO:0010469 9.55 CALCA DKK1 IGF1 WNT1 WNT3A
21 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 9.54 IGF1 WNT1
22 response to nutrient levels GO:0031667 9.54 BGLAP COL1A1 IGF1
23 spinal cord association neuron differentiation GO:0021527 9.52 WNT1 WNT3A
24 Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation GO:1904953 9.46 WNT1 WNT3A
25 cell proliferation in midbrain GO:0033278 9.43 WNT1 WNT3A
26 positive regulation of dermatome development GO:0061184 9.26 WNT1 WNT3A
27 beta-catenin destruction complex disassembly GO:1904886 9.13 LRP5 WNT1 WNT3A
28 bone development GO:0060348 8.92 BGLAP LRP5 PLS3 WNT1

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

# Name GO ID Score Top Affiliating Genes
1 frizzled binding GO:0005109 9.16 WNT1 WNT3A
2 receptor ligand activity GO:0048018 8.96 WNT1 WNT3A
3 co-receptor binding GO:0039706 8.62 DKK1 WNT3A

Sources for Osteoporosis, Juvenile

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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