MCID: IDP002
MIFTS: 48

Idiopathic Juvenile Osteoporosis malady

Rare diseases, Bone diseases, Fetal diseases categories

Summaries for Idiopathic Juvenile Osteoporosis

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NIH Rare Diseases:41 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.  last updated: 5/30/2012

MalaCards based summary: Idiopathic Juvenile Osteoporosis, also known as juvenile osteoporosis, is related to osteoporosis and ehlers-danlos syndrome, and has symptoms including bone pain, recurrent fractures and reduced bone mineral density. An important gene associated with Idiopathic Juvenile Osteoporosis is WNT1 (wingless-type MMTV integration site family, member 1), and among its related pathways are Wnt Pathway and Presenilin action in Notch and Wnt signaling. The compounds tiludronate and cyanogen bromide have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and testes, and related mouse phenotypes are craniofacial and limbs/digits/tail.

Disease Ontology:9 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:63 Juvenile osteoporosis is osteoporosis in children and adolescents. more...

Aliases & Classifications for Idiopathic Juvenile Osteoporosis

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 11DISEASES, 43Novoseek, 47Orphanet, 60UMLS, 55SNOMED-CT, 27ICD9CM, 26ICD10 via Orphanet, 25ICD10
See all sources

Idiopathic Juvenile Osteoporosis, Aliases & Descriptions:

Name: Idiopathic Juvenile Osteoporosis 9 41 11 43 47
Juvenile Osteoporosis 9 41 47 60
Idiopathic Osteoporosis 9 43 60
 
Ijo 41 47
Osteoporosis, Juvenile 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

47
idiopathic juvenile osteoporosis:
Inheritance: Multigenic/multifactorial,Not applicable; Age of onset: Childhood


External Ids:

Disease Ontology9 DOID:12559
ICD9CM27 733.02
Orphanet47 85193
SNOMED-CT55 3345002
ICD10 via Orphanet26 M81.5
ICD1025 M80.5, M81.5

Related Diseases for Idiopathic Juvenile Osteoporosis

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

(show top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1osteoporosis31.4CD36, CALCA, BGLAP, LRP5
2ehlers-danlos syndrome30.6CD36, COL1A2
3osteogenesis imperfecta30.4LRP5, BGLAP, COL1A2, CD36
4reflex sympathetic dystrophy10.5CALCA
5paget disease of bone10.4CALCA
6osteitis fibrosa10.4BGLAP
7insulin-like growth factor i10.3
8camurati-engelmann disease10.3LRP5, BGLAP
9hyperostosis10.3BGLAP, LRP5
10fibrous dysplasia10.3CD36, BGLAP
11osteogenesis imperfecta, type iii10.3COL1A2, CD36
12osteogenesis imperfecta, type ii10.3COL1A2, CD36
13osteogenesis imperfecta, type iv10.2COL1A2, CD36
14pseudohypoparathyroidism10.2BGLAP, CALCA
15osteopetrosis10.2BGLAP, LRP5
16otosclerosis10.2COL1A2, CD36
17hypophosphatemia10.2CALCA, BGLAP
18rickets10.2BGLAP, CD36
19hypoparathyroidism10.2CALCA, BGLAP
20marfan syndrome10.2COL1A2, CD36
21giant cell tumor10.2BGLAP, CALCA
22bone cancer10.2BGLAP, CD36
23dentinogenesis imperfecta10.2CD36, COL1A2
24goiter10.2BGLAP, CALCA
25hyperparathyroidism10.2BGLAP, CALCA
26scoliosis10.2
27juvenile primary osteoporosis10.2
28back pain10.2
29cushing's syndrome10.2BGLAP, CALCA
30connective tissue disease10.2CD36, COL1A2
31hypercalcemia10.2BGLAP, CALCA
32hypogonadism10.2CALCA, BGLAP
33glomerulosclerosis10.1CD36, COL1A2
34primary hyperoxaluria10.1CALCA, BGLAP
35marchiafava bignami disease10.1CD36, CALCA, BGLAP
36renal osteodystrophy10.1BGLAP, CALCA, CD36
37primary hyperparathyroidism10.1BGLAP, CALCA, CD36
38secondary hyperparathyroidism of renal origin10.1BGLAP, CALCA, CD36
39osteomalacia10.1CD36, CALCA, BGLAP
40periodontal disease10.1BGLAP, CD36
41pulmonary fibrosis10.1CD36, COL1A2
42osteogenesis imperfecta, type i10.1CD36, COL1A2, BGLAP
43x-linked osteoporosis with fractures10.0
44myeloma10.0CD36, DKK1, BGLAP
45diabetes mellitus, insulin-dependent9.9CD36, CALCA, BGLAP, LRP5
46osteosarcoma, somatic9.9LRP5, BGLAP, DKK1, CD36
47pancreatic cancer9.8DKK1, WNT1, CD36
48secondary syphilis9.7LRP5, BGLAP, DKK1, CALCA, CD36
49osteoarthritis9.7LRP5, BGLAP, COL1A2, CALCA, CD36
50prostate cancer9.6CD36, WNT3A, DKK1, BGLAP

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



Diseases related to idiopathic juvenile osteoporosis

Symptoms for Idiopathic Juvenile Osteoporosis

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Symptoms:

 47
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • mutiple fractures/bone fragility
  • bone pain
  • motor deficit/trouble
  • abnormal gait
  • kyphosis

HPO human phenotypes related to Idiopathic Juvenile Osteoporosis:

(show all 8)
id Description Frequency HPO Source Accession
1 bone pain hallmark (90%) HP:0002653
2 recurrent fractures hallmark (90%) HP:0002757
3 reduced bone mineral density hallmark (90%) HP:0004349
4 gait disturbance typical (50%) HP:0001288
5 kyphosis occasional (7.5%) HP:0002808
6 autosomal recessive inheritance HP:0000007
7 osteoporosis HP:0000939
8 low serum calcitriol (1,25-dihydroxycholecalciferol) HP:0012052

Drugs & Therapeutics for Idiopathic Juvenile Osteoporosis

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Drug clinical trials:

Search ClinicalTrials for Idiopathic Juvenile Osteoporosis

Search NIH Clinical Center for Idiopathic Juvenile Osteoporosis

Genetic Tests for Idiopathic Juvenile Osteoporosis

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Anatomical Context for Idiopathic Juvenile Osteoporosis

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MalaCards organs/tissues related to Idiopathic Juvenile Osteoporosis:

31
Bone, Skin, Testes

Animal Models for Idiopathic Juvenile Osteoporosis or affiliated genes

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MGI Mouse Phenotypes related to Idiopathic Juvenile Osteoporosis:

35 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.0WNT3A, WNT1, DKK1, LRP5
2MP:00053718.9COL1A2, WNT3A, DKK1, LRP5
3MP:00053888.5CALCA, WNT3A, WNT1, DKK1
4MP:00053678.5DKK1, WNT3A, CALCA, CD36
5MP:00053808.4LRP5, DKK1, WNT1, WNT3A, CALCA
6MP:00053698.4WNT1, WNT3A, COL1A2, CD36
7MP:00053848.3CD36, COL1A2, WNT1, DKK1, LRP5
8MP:00053858.1LRP5, WNT3A, COL1A2, CALCA, CD36
9MP:00036317.9LRP5, DKK1, WNT1, WNT3A, CALCA, CD36
10MP:00053867.9LRP5, WNT1, WNT3A, COL1A2, CALCA, CD36
11MP:00053907.5CD36, LRP5, DKK1, WNT1, WNT3A, COL1A2
12MP:00107687.5LRP5, DKK1, WNT1, WNT3A, COL1A2, CALCA

Publications for Idiopathic Juvenile Osteoporosis

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Articles related to Idiopathic Juvenile Osteoporosis:

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

Variations for Idiopathic Juvenile Osteoporosis

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Clinvar genetic disease variations for Idiopathic Juvenile Osteoporosis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1WNT1NM_005430.3(WNT1): c.859dupC (p.His287Profs)duplicationPathogenic, risk factorrs387907353GRCh37Chr 12, 49375169: 49375170
2WNT1NM_005430.3(WNT1): c.703C> T (p.Arg235Trp)single nucleotide variantrisk factorrs387907359GRCh37Chr 12, 49375013: 49375013
3WNT1NM_005430.3(WNT1): c.652T> G (p.Cys218Gly)single nucleotide variantrisk factorrs397514702GRCh37Chr 12, 49374962: 49374962

Expression for genes affiliated with Idiopathic Juvenile Osteoporosis

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

Pathways for genes affiliated with Idiopathic Juvenile Osteoporosis

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

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.7WNT1, WNT3A
29.7WNT1, DKK1
39.6WNT3A, DKK1
49.6COL1A2, WNT1
59.5COL1A2, DKK1
69.4COL1A2, CD36
7
Show member pathways
9.4COL1A2, CD36
8
Show member pathways
DNA damage response (only ATM dependent)36
Wnt Signaling Pathway and Pluripotency36
9.3WNT3A, WNT1, LRP5
99.3LRP5, WNT1, WNT3A
109.3LRP5, DKK1, WNT1
11
Show member pathways
9.3DKK1, WNT1, WNT3A
129.2WNT3A, DKK1, LRP5
139.1BGLAP, COL1A2
149.1COL1A2, BGLAP
15
Show member pathways
9.1CALCA, WNT3A, WNT1
169.0CALCA, BGLAP
178.9WNT3A, WNT1, DKK1, LRP5
188.9WNT3A, WNT1, DKK1, LRP5
19
Show member pathways
Wnt Signaling Pathway NetPath36
8.9LRP5, DKK1, WNT1, WNT3A

Compounds for genes affiliated with Idiopathic Juvenile Osteoporosis

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Compounds related to Idiopathic Juvenile Osteoporosis according to GeneCards Suite gene sharing:

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1tiludronate43 49 1211.7CD36, CALCA
2cyanogen bromide439.7COL1A2, CD36
3silver nitrate439.7CALCA, CD36
4mithramycin439.6CALCA, COL1A2
5ti6al4v439.5CD36, BGLAP
622-oxacalcitriol439.5CD36, BGLAP
7alizarin439.5CD36, BGLAP
8polyglycolic acid439.5BGLAP, CD36
9ipriflavone439.4CALCA, BGLAP
10chitosan439.4BGLAP, CD36
11calcium gluconate439.4CALCA, BGLAP
1224,25-dihydroxyvitamin d3439.4BGLAP, CALCA
13alfacalcidol43 59 1211.4BGLAP, CALCA
14nandrolone decanoate43 1210.4BGLAP, CALCA
15glycogen43 2410.4DKK1, WNT1, WNT3A
16titanium439.4CD36, BGLAP
17sodium fluoride439.4CALCA, BGLAP
18budesonide43 49 1211.3CD36, BGLAP
19thiazide439.3BGLAP, CALCA
20tibolone439.3BGLAP, CALCA
21alginate439.3CD36, BGLAP
22furosemide43 59 28 49 24 1214.1CALCA, BGLAP
231,25 dihydroxy vitamin d3439.0LRP5, BGLAP, CALCA
24phosphorus439.0BGLAP, CALCA
25captopril43 59 49 28 1213.0CD36, CALCA
26procollagen439.0BGLAP, COL1A2, CD36
27etidronate439.0CD36, CALCA, BGLAP
28teriparatide43 1210.0CD36, CALCA, BGLAP
29ibandronate43 1210.0BGLAP, CALCA, CD36
30calcium carbonate439.0BGLAP, CALCA, CD36
31tartrate439.0BGLAP, CALCA, CD36
32vitamin k2438.9BGLAP, CALCA, CD36
33pamidronate43 49 1210.9CD36, CALCA, BGLAP
34risedronate43 49 28 59 1212.9BGLAP, CALCA, CD36
35clodronate43 49 1210.9CD36, CALCA, BGLAP
36pyridinoline438.9BGLAP, CALCA, CD36
37fluoride438.9CALCA, BGLAP
38deoxypyridinoline438.9BGLAP, CALCA, CD36
39zoledronic acid438.9BGLAP, CALCA, CD36
40alendronate43 49 1210.9CD36, CALCA, BGLAP
4125-hydroxyvitamin d438.9BGLAP, CALCA, CD36
42raloxifene43 49 28 1211.9CD36, CALCA, BGLAP
43hydroxyproline43 24 1210.9BGLAP, CALCA, CD36
44hydrocortisone43 2 59 1211.9CD36, CALCA, BGLAP
45calcitriol43 59 24 1211.8CD36, CALCA, BGLAP
46retinoic acid43 249.6BGLAP, WNT1, WNT3A, CD36
47pge2438.5CD36, CALCA, BGLAP
48vitamin d438.1CD36, CALCA, COL1A2, BGLAP, LRP5
49calcium43 49 24 1210.8LRP5, BGLAP, COL1A2, CALCA, CD36
50estrogen437.7LRP5, BGLAP, WNT1, COL1A2, CALCA, CD36

GO Terms for genes affiliated with Idiopathic Juvenile Osteoporosis

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

idNameGO IDScoreTop Affiliating Genes
1Golgi lumenGO:00057969.7WNT3A, WNT1
2endoplasmic reticulum lumenGO:00057889.1COL1A2, WNT3A, WNT1
3cell surfaceGO:00099868.9WNT1, WNT3A, CD36
4extracellular regionGO:00055767.8BGLAP, WNT1, WNT3A, COL1A2, CALCA
5extracellular spaceGO:00056157.4CALCA, COL1A2, WNT3A, WNT1, DKK1, BGLAP

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of dermatome developmentGO:006118410.0WNT3A, WNT1
2spinal cord association neuron differentiationGO:002152710.0WNT3A, WNT1
3negative regulation of fat cell differentiationGO:00455999.9WNT3A, WNT1
4negative regulation of BMP signaling pathwayGO:00305149.9WNT1, DKK1
5embryonic limb morphogenesisGO:00303269.8LRP5, DKK1
6neuron differentiationGO:00301829.7WNT3A, WNT1
7canonical Wnt signaling pathwayGO:00600709.6WNT3A, WNT1, LRP5
8inner ear morphogenesisGO:00424729.6WNT3A, WNT1
9positive regulation of sequence-specific DNA binding transcription factor activityGO:00510919.6LRP5, WNT1, WNT3A
10osteoblast developmentGO:00020769.5BGLAP, LRP5
11bone developmentGO:00603489.5BGLAP, WNT1
12odontogenesisGO:00424769.4COL1A2, BGLAP
13positive regulation of cell proliferationGO:00082849.3LRP5, WNT1, WNT3A
14osteoblast differentiationGO:00016499.3WNT3A, BGLAP
15regulation of blood pressureGO:00082179.3CALCA, COL1A2, LRP5
16positive regulation of transcription, DNA-templatedGO:00458939.0WNT3A, WNT1, LRP5

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

idNameGO IDScoreTop Affiliating Genes
1frizzled bindingGO:00051099.7WNT3A, WNT1
2receptor agonist activityGO:00480189.4WNT3A, WNT1

Products for genes affiliated with Idiopathic Juvenile Osteoporosis

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Sources for Idiopathic Juvenile Osteoporosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet