MCID: OST005
MIFTS: 68

Osteogenesis Imperfecta malady

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

Aliases & Classifications for Osteogenesis Imperfecta

About this section
Sources:
10Disease Ontology, 68Wikipedia, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 36MeSH, 35MedlinePlus, 65UMLS, 24GTR, 27ICD10, 29ICD9CM, 42NCIt, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet
See all MalaCards sources

Aliases & Descriptions for Osteogenesis Imperfecta:

Name: Osteogenesis Imperfecta 10 68 45 22 23 47 12 51 36 35 65
Brittle Bone Disease 10 68 45 22 23 51
Oi 68 45 22 23 51
Fragilitas Ossium 10 68 45 23
Osteopsathyrosis 10 68 45 51
Vrolik Disease 68 45 23
Porak and Durante Disease 45 51
Lobstein Disease 45 51
 
Osteogenesis Imperfecta, Recessive Perinatal Lethal 65
Osteogenesis Imperfecta, Dominant Perinatal Lethal 65
Osteogenesis Imperfecta Type 24
Ekman-Lobstein Disease 68
Lobstein's Syndrome 10
Glass Bone Disease 51
Lobstein's Disease 65
Vrolik's Disease 10

Characteristics:

Orphanet epidemiological data:

51
osteogenesis imperfecta:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages

Classifications:



External Ids:

Disease Ontology10 DOID:12347
ICD1027 Q78.0
ICD9CM29 756.51
MeSH36 D010013
Orphanet51 666
UMLS via Orphanet66 C0029434
ICD10 via Orphanet28 Q78.0
MESH via Orphanet37 D010013
UMLS65 C0023931, C0029434, C0268358 C0268360, more

Summaries for Osteogenesis Imperfecta

About this section
MedlinePlus:35 Osteogenesis imperfecta (oi) is a genetic disorder in which bones break easily. sometimes the bones break for no known reason. oi can also cause weak muscles, brittle teeth, a curved spine, and hearing loss. oi is caused by one of several genes that aren't working properly. when these genes don't work, it affects how you make collagen, a protein that helps make bones strong. oi can range from mild to severe, and symptoms vary from person to person. a person may have just a few or as many as several hundred fractures in a lifetime. no single test can identify oi. your doctor uses your medical and family history, physical exam, and imaging and lab tests to diagnose it. your doctor may also test your collagen (from skin) or genes (from blood). there is no cure, but you can manage symptoms. treatments include exercise, pain medicine, physical therapy, wheelchairs, braces, and surgery. nih: national institute of arthritis and musculoskeletal and skin diseases

MalaCards based summary: Osteogenesis Imperfecta, also known as brittle bone disease, is related to osteogenesis imperfecta, type iv and osteogenesis imperfecta, type ii, and has symptoms including macrocephaly, prominent occiput and micrognathia. An important gene associated with Osteogenesis Imperfecta is COL1A2 (Collagen Type I Alpha 2), and among its related pathways are Inflammatory Response Pathway and Cell adhesion_Endothelial cell contacts by non-junctional mechanisms. The drugs calcitonin and salmon calcitonin have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and testes, and related mouse phenotypes are muscle and limbs/digits/tail.

Disease Ontology:10 An osteochondrodysplasia that has material basis in a deficiency in type-I collagen which results in brittle bones and defective connective tissue.

Genetics Home Reference:23 Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People with this condition have bones that break easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime.

NIH Rare Diseases:45 Osteogenesis imperfecta (oi) is a group of genetic disorders that mainly affect the bones. people with this condition have bones that break easily, often from little or no trauma. severity varies among affected people. multiple fractures are common, and in severe cases, can even occur before birth. milder cases may involve only a few fractures over a person's lifetime. people with oi also have dental problems (dentinogenesis imperfecta) and hearing loss in adulthood. other features may include muscle weakness, loose joints, and skeletal malformations. there are various recognized forms of oi which are distinguished by their features and genetic causes. depending on the genetic cause, oi may be inherited in an autosomal dominant (more commonly) or autosomal recessive manner. treatment is supportive and aims to decrease the number of fractures and disabilities. last updated: 10/6/2015

Wikipedia:68 Osteogenesis imperfecta (OI), also known as brittle bone disease or Lobstein syndrome, is a congenital... more...

Related Diseases for Osteogenesis Imperfecta

About this section

Diseases in the Osteogenesis Imperfecta family:

Osteogenesis Imperfecta, Type Viii Osteogenesis Imperfecta, Type Vii
Osteogenesis Imperfecta, Type Xvii Osteogenesis Imperfecta, Type Iv
Osteogenesis Imperfecta, Type Iii Osteogenesis Imperfecta, Type Ii
Osteogenesis Imperfecta, Type Xiii Osteogenesis Imperfecta, Type Xiv
Osteogenesis Imperfecta, Type V Osteogenesis Imperfecta, Type Xvi
Osteogenesis Imperfecta, Type X Osteogenesis Imperfecta, Type Xv
Osteogenesis Imperfecta, Type Xii Osteogenesis Imperfecta, Type Ix
Osteogenesis Imperfecta, Type Vi Osteogenesis Imperfecta, Type Xi
Osteogenesis Imperfecta, Type I Bmp1-Related Osteogenesis Imperfecta
Crtap-Related Osteogenesis Imperfecta Fkbp10-Related Osteogenesis Imperfecta
Ifitm5-Related Osteogenesis Imperfecta Lepre1-Related Osteogenesis Imperfecta
Ppib-Related Osteogenesis Imperfecta Serpinf1-Related Osteogenesis Imperfecta
Serpinh1-Related Osteogenesis Imperfecta Sp7-Related Osteogenesis Imperfecta
Tmem38b-Related Osteogenesis Imperfecta Sparc-Related Osteogenesis Imperfecta
Wnt1-Related Osteogenesis Imperfecta

Diseases related to Osteogenesis Imperfecta via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 185)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta, type iv34.7COL1A1, COL1A2
2osteogenesis imperfecta, type ii30.8BMP1, COL1A1, COL1A2, CRTAP, FKBP10, P3H1
3osteogenesis imperfecta, type iii29.3COL1A1, COL1A2, CRTAP, DSPP, FKBP10, PPIB
4osteogenesis imperfecta, type i12.6
5osteogenesis imperfecta, type v12.6
6osteogenesis imperfecta, type vi12.5
7osteogenesis imperfecta, type vii12.5
8osteogenesis imperfecta, type ix12.4
9osteogenesis imperfecta, type viii12.3
10osteogenesis imperfecta, type x12.3
11osteogenesis imperfecta, type xi12.3
12osteogenesis imperfecta, type xii12.3
13osteogenesis imperfecta, type xiii12.3
14osteogenesis imperfecta, type xiv12.3
15osteogenesis imperfecta, type xv12.3
16osteogenesis imperfecta, type xvi12.3
17osteogenesis imperfecta, type xvii12.2
18high bone mass osteogenesis imperfecta12.2
19perinatally lethal osteogenesis imperfecta12.2
20progressively deforming osteogenesis imperfecta12.2
21col1a1/2-related osteogenesis imperfecta12.2
22congenital osteogenesis imperfecta-microcephaly-cataracts syndrome12.1
23osteogenesis imperfecta levin type12.1
24common variable osteogenesis imperfecta with normal sclerae12.1
25wnt1-related osteogenesis imperfecta12.1
26tmem38b-related osteogenesis imperfecta12.0
27classic non-deforming osteogenesis imperfecta with blue sclerae12.0
28sparc-related osteogenesis imperfecta12.0
29bmp1-related osteogenesis imperfecta12.0
30crtap-related osteogenesis imperfecta12.0
31fkbp10-related osteogenesis imperfecta12.0
32ifitm5-related osteogenesis imperfecta12.0
33lepre1-related osteogenesis imperfecta12.0
34ppib-related osteogenesis imperfecta12.0
35serpinf1-related osteogenesis imperfecta12.0
36serpinh1-related osteogenesis imperfecta12.0
37sp7-related osteogenesis imperfecta12.0
38osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome12.0
39ehlers-danlos/osteogenesis imperfecta syndrome12.0
40dentinogenesis imperfecta11.9
41bruck syndrome11.8
42osteoporosis-pseudoglioma syndrome11.7
43dentinogenesis imperfecta, shields type ii11.6
44gnathodiaphyseal dysplasia11.4
45bruck syndrome 211.4
46orthostatic intolerance11.0
47bruck syndrome 111.0
48al gazali sabrinathan nair syndrome11.0
49dentinogenesis imperfecta type 211.0
50cole-carpenter syndrome10.9

Graphical network of the top 20 diseases related to Osteogenesis Imperfecta:



Diseases related to osteogenesis imperfecta

Symptoms for Osteogenesis Imperfecta

About this section

Symptoms:

 51 (show all 53)
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • brachycephaly/flat occiput
  • prominent occiput/occipital bossing
  • poorly ossified skull/calvarium
  • micrognathia/retrognathia/micrognathism/retrognathism
  • blue sclerae
  • beaked nose
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • dentine anomaly
  • dental staining anomaly/spotted teeth/erythrodontia
  • multiple caries
  • pectus carinatum
  • rib structure anomalies
  • tibia anomaly (excluding short)/absence/agenesis/hypoplasia/tibial ray anomaly
  • abnormal gait
  • metaphyseal anomaly
  • enlarged diaphysis/diaphyses
  • autosomal dominant inheritance
  • intrauterine growth retardation
  • large fontanelle/delayed fontanelle closure
  • triangular face
  • glaucoma
  • corneal clouding/opacity/vascularisation
  • visual loss/blindness/amblyopia
  • narrow rib cage/thorax
  • scoliosis
  • abnormal vertebral size/shape
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • genu valgum
  • hyperhidrosis/increased sweating
  • congenital cardiac anomaly/malformation/cardiopathy
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • bowed diaphysis/diaphyses/long bones
  • narrowed/gracile diaphysis/diaphyses/long bones/dolichostenomelia
  • cortical anomaly/thick bone cortical layer
  • hyperextensible joints/articular hyperlaxity
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • stillbirth/neonatal death
  • wormian bones
  • hearing loss/hypoacusia/deafness
  • pectus excavatum
  • kyphosis
  • inguinal/inguinoscrotal/crural hernia
  • umbilical hernia
  • short limbs/micromelia/brachymelia
  • purpura/petichiae
  • endocardium anomalies/fibroelastosis/endocarditis
  • visceral angiomatosis (excluding skin)
  • mutiple fractures/bone fragility
  • thrombocytopenia/thrombopenia
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism

HPO human phenotypes related to Osteogenesis Imperfecta:

(show all 42)
id Description Frequency HPO Source Accession
1 macrocephaly hallmark (90%) HP:0000256
2 prominent occiput hallmark (90%) HP:0000269
3 micrognathia hallmark (90%) HP:0000347
4 convex nasal ridge hallmark (90%) HP:0000444
5 blue sclerae hallmark (90%) HP:0000592
6 carious teeth hallmark (90%) HP:0000670
7 pectus carinatum hallmark (90%) HP:0000768
8 abnormality of the ribs hallmark (90%) HP:0000772
9 abnormality of the metaphyses hallmark (90%) HP:0000944
10 gait disturbance hallmark (90%) HP:0001288
11 intrauterine growth retardation hallmark (90%) HP:0001511
12 abnormality of the tibia hallmark (90%) HP:0002992
13 decreased skull ossification hallmark (90%) HP:0004331
14 abnormality of dentin hallmark (90%) HP:0010299
15 abnormality of dental color hallmark (90%) HP:0011073
16 triangular face typical (50%) HP:0000325
17 glaucoma typical (50%) HP:0000501
18 visual impairment typical (50%) HP:0000505
19 narrow chest typical (50%) HP:0000774
20 hyperhidrosis typical (50%) HP:0000975
21 joint hypermobility typical (50%) HP:0001382
22 scoliosis typical (50%) HP:0002650
23 abnormality of the femur typical (50%) HP:0002823
24 genu valgum typical (50%) HP:0002857
25 slender long bone typical (50%) HP:0003100
26 abnormal cortical bone morphology typical (50%) HP:0003103
27 abnormality of the hip bone typical (50%) HP:0003272
28 abnormal form of the vertebral bodies typical (50%) HP:0003312
29 reduced bone mineral density typical (50%) HP:0004349
30 opacification of the corneal stroma typical (50%) HP:0007759
31 hearing impairment occasional (7.5%) HP:0000365
32 pectus excavatum occasional (7.5%) HP:0000767
33 umbilical hernia occasional (7.5%) HP:0001537
34 thrombocytopenia occasional (7.5%) HP:0001873
35 subcutaneous hemorrhage occasional (7.5%) HP:0001933
36 wormian bones occasional (7.5%) HP:0002645
37 recurrent fractures occasional (7.5%) HP:0002757
38 kyphosis occasional (7.5%) HP:0002808
39 micromelia occasional (7.5%) HP:0002983
40 abnormality of the endocardium occasional (7.5%) HP:0004306
41 short stature occasional (7.5%) HP:0004322
42 visceral angiomatosis occasional (7.5%) HP:0100761

UMLS symptoms related to Osteogenesis Imperfecta:


sciatica, muscle cramp, back pain, scleral discoloration

Drugs & Therapeutics for Osteogenesis Imperfecta

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Drugs for Osteogenesis Imperfecta (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 36)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AlendronateapprovedPhase 4155121268-17-5, 66376-36-12088
Synonyms:
(4-Amino-1-hydroxybutylidene)bisphosphonic acid
(4-Amino-1-hydroxybutylidene)diphosphonic acid
(4-amino-1-hydroxy-1-phosphonobutyl)phosphonic acid
(4-amino-1-hydroxybutane-1,1-diyl)bis(phosphonic acid)
121268-17-5 (mono-hydrochloride salt, trihydrate)
1yhm
4-Amino-1-hydroxybutane-1,1-diphosphonate
4-Amino-1-hydroxybutane-1,1-diphosphonic Acid
4-Amino-1-hydroxybutylidene-1,1-bis(phosphonic acid)
4-Amino-1-hydroxybutylidene-1,1-bisphosphonate
66376-36-1
AC1L1CW3
AKOS001015793
ALENDRONATE SODIUM
ALENDRONIC ACID
Acide Alendronique
Acide Alendronique [INN-French]
Acide alendronique
Acide alendronique [INN-French]
Acido Alendronico
Acido Alendronico [INN-Spanish]
Acido alendronico
Acido alendronico [INN-Spanish]
Acidum Alendronicum
Acidum Alendronicum [INN-Latin]
Acidum alendronicum
Acidum alendronicum [INN-Latin]
Adronat
Alendronate
Alendronate Sodium
 
Alendronate sodium hydrate
Alendronic acid
Alendronic acid (INN)
Alendronic acid [INN:BAN]
Alendros
Arendal
BIDD:GT0180
Binosto
C07752
CHEBI:2567
CHEMBL870
CID2088
D07119
DB00630
Fosamax
Fosamax Plus D
HSCI1_000337
LS-106421
MK 217
MK-217
MolPort-000-421-410
NCGC00096054-01
NCGC00096054-03
NCGC00096054-04
Onclast
Oprea1_422906
Phosphonic acid, (4-amino-1-hydroxybutylidene)bis
SPECTRUM1505166
ST50036159
UNII-X1J18R4W8P
alendronate
bisphosphonate, 65
2
PamidronateapprovedPhase 4, Phase 3, Phase 24340391-99-94674
Synonyms:
(3-AMINO-1-HYDROXY-1-PHOSPHONO-PROPYL)PHOSPHONIC ACID
(3-Amino-1-hydroxypropylidene)bisphosphonic acid
(3-Amino-1-hydroxypropylidene)diphosphonic acid
(3-amino-1-hydroxy-1-phosphonopropyl)phosphonic acid
(3-amino-1-hydroxypropane-1,1-diyl)bis(phosphonic acid)
(3-amino-1-hydroxypropylidene)-1,1-biphosphonate
(3-amino-1-hydroxypropylidene)-1,1-bisphosphonate
1-hydroxy-3-aminopropane-1,1-diphosphonic acid
3-Amino-1-hydroxypropylidene-1,1-diphosphonate
40391-99-9
57248-88-1
57248-88-1 (di-hydrochloride salt)
AC1L1IP4
AHPrBP
AKOS003599275
APD
Acide pamidronique
Acide pamidronique [INN-French]
Acido pamidronico
Acido pamidronico [INN-Spanish]
Acidum pamidronicum
Acidum pamidronicum [INN-Latin]
Amidronate
Aminomux
Aredia
BIDD:GT0538
Bisphosphonate 6
C019248
C07395
C3H11NO7P2
 
CHEMBL834
CID4674
ChemDiv1_025240
D07281
DB00282
EINECS 254-905-2
HMS2090C13
HMS658L06
HSCI1_000312
I14-2407
LS-174826
MolPort-002-131-054
NCGC00159433-02
NCGC00159433-03
Novartis brand of pamidronate disodium salt
PAMIDRONATE DISODIUM
PAMIDRONIC ACID
Pamidronate Disodium
Pamidronic acid
Pamidronic acid (INN)
Pamidronic acid [INN:BAN]
Ribodroat
Ribodroat (TN)
STOCK1N-12562
UNII-OYY3447OMC
amino-1-hydroxypropane-1,1-diphosphonate
aminohydroxypropylidene diphosphonate
aminopropanehydroxydiphosphonate
pamidronate
pamidronate calcium
pamidronate monosodium
3
Teriparatideapproved, investigationalPhase 4, Phase 212952232-67-416133850
Synonyms:
52232-67-4
D06078
Forteo
 
Forteo (TN)
TERIPARATIDE
Teriparatide (USAN/INN)
Teriparatide (genetical recombination)
Teriparatide (genetical recombination) (JAN)
4
Ergocalciferolapproved, nutraceuticalPhase 492350-14-65280793
Synonyms:
'Ergosterol irradiated'
(+)-Vitamin D2
(3-beta,5Z,7E,22E)-9,10-Secoergosta-5,7,10,(19),22-tetraen-3-ol
(3S,5Z,7E,14xi,17alpha,22E)-9,10-secoergosta-5,7,10,22-tetraen-3-ol
(3S,5Z,7E,22E)-9,10-secoergosta-5,7,10(19),22-tetraen-3-ol
(3S,5Z,7E,22E)-9,10-secoergosta-5,7,10,22-tetraen-3-ol
(3beta,5Z,7E,22E)-9,10-secoergosta-5,7,10(19),22-tetraen-3-ol
(3beta,5Z,7e,22e)-9,10-Secoergosta-5,7,10(19),22-tetraen-3-ol
(5E,7E,22E)-9,10-Secoergosta-5,7,10,22-tetraen-3-ol
(5Z,7E,22E)-(3S)-9,10-seco-5,7,10(19),22-ergostatetraen-3-ol
(5Z,7E,22E)-(3S)-9,10-secoergosta-5,7,10(19),22-tetraen-3-ol
(5Z,7e,22e)-(3S)-9,10-Seco-5,7,10(19),22-ergostatetraen-3-ol
(5Z,7e,22e)-(3S)-9,10-Secoergosta-5,7,10(19),22-tetraen-3-ol
22-Tetraen 3beta 9,10,Secoergosta-5,7,10(19)-ol
31316-19-5
4-Methylene-3-[2-[tetrahydro-7a-methyl-1-(1,4,5-trimethyl-2-hexenyl)-4(3aH)-indanylidene]ethylidene]-Cyclohexanol
47768_SUPELCO
50-14-6
7489-18-1
7E677DC1-E1C4-4FC5-8F4A-BCE1857F7E87
8017-28-5
9,10,Secoergosta-5,7,10(19),22-tetraen 3.beta.-ol
9,10-Seco(5Z,7E,22E)-5,7,10(19),22-ergostatetraen-3-ol
9,10-Secoergosta-5,7,10(19),22-tetraen-3-beta-ol
9,10-Secoergosta-5,7,10(19),22-tetraen-3b-ol
95220_FLUKA
95220_SIGMA
AC-1355
AC1L1FIE
AC1NQXLH
AC1NS4DE
AC1NS9GI
AC1NSSVD
AC1NWAM3
AC1O5EDK
AC1O6WAM
ACon1_002187
Activated ergosterol
BPBio1_000418
BSPBio_000380
BSPBio_001974
Buco-D
C05441
C28H44O
CALCIFEROL IN A GELATIN MATRIX
CALCIFEROL, U.S.P.
CHEBI:28934
CHEMBL1536
CID11003810
CID3249
CID5280793
CID5315257
CID5353610
CID5356615
CID5702050
CID6432478
CID6536972
Calciferol
Calciferol (TN)
Calciferol (vitamin D2)
Calciferolum
Calciferon 2
Condacaps
Condocaps
Condol
Crtron
Crystallina
D-Arthin
D-Tracetten
D00187
DB00153
Daral
Davitamon D
Davitin
De-rat concentrate
Decaps
Dee-Osterol
Dee-Ron
Dee-Ronal
Dee-Roual
Deltalin
Deratol
Detalup
Diactol
Divit urto
Doral
Drisdol
Drisdol (TN)
E5750_SIGMA
EINECS 200-014-9
Ercalciol
Ergocalciferol
Ergocalciferol (D2)
Ergocalciferol (JP15/USP)
Ergocalciferol [INN:BAN:JAN]
Ergocalciferol oil
Ergocalciferol: Vitamin D
 
Ergocalciferolo
Ergocalciferolo [DCIT]
Ergocalciferols
Ergocalciferolum
Ergocalciferolum [INN-Latin]
Ergorone
Ergosterol activated
Ergosterol irradiated
Ergosterol, irradiated
Ertron
Fortodyl
Geltabs
Geltabs Vitamin D
HMS1920K20
HMS2091B19
HMS502I07
HSDB 819
Haliver
Hi-Deratol
Hyperkil
I05-0022
IDI1_000805
Infron
Irradiated ergosta-5,7,22-trien-3-beta-ol
Irradiated ergosta-5,7,22-trien-3.beta.-ol
Irradiated ergosta-5,7,22-trien-3beta-ol
Irradiated ergosterol
LMST03010001
LMST03010014
LS-3228
MEGxm0_000466
MLS001332467
MLS001332468
Metadee
Mina D2
MolPort-001-740-057
MolPort-001-793-930
MolPort-002-526-645
MolPort-003-666-178
MolPort-006-822-629
Mulsiferol
Mykostin
NCGC00142497-01
NCGC00179579-01
NCGC00179579-02
NSC 62792
NSC62792
Novovitamin-D
Oleovitamin D
Oleovitamin D, Synthetic
Oleovitamin D2
Osteil
Ostelin
Prestwick3_000420
Prestwick_554
Radiostol
Radstein
Radsterin
Rodine C
Rodinec
SMR000857106
SPECTRUM1500276
ST057150
STOCK1N-53397
Shock-ferol
Shock-ferol sterogyl
Sorex C.R
Sorex C.R.
Spectrum5_000666
Sterogyl
Synthetic Vitamin D
UNII-VS041H42XC
Uvesterol D
Uvesterol-D
VITAMIN D2
VITAMIN D2 WATER DISPERSABLE U.S.P.
VITAMIN_D2
Vigantol
Vio D
Vio-D
Viostdrol
Viosterol
Viosterol in Oil
Vitamin D
Vitamin D2
Vitamin- D2
Vitamin-?D2
Vitamina D2
Vitavel-D
WLN: L56 FYTJ A1 BY1&1U1Y1&Y1&1 FU2U- BL6YYTJ AU1 DQ
ZINC04474571
ZINC04629876
beta-Ol
bmse000510
component of Geltabs Vitamin D
delta-Arthin
delta-Tracetten
ergocalciferol
vitamin d-2
5
Cholecalciferolapproved, nutraceuticalPhase 479967-97-06221, 10883523, 5280795
Synonyms:
()-Vitamin D3
(+)-Vitamin D3
(+)-vitamin D3
(1S,3Z)-3-[(2e)-2-[(1R,3AR,7as)-7a-methyl-1-[(2R)-6-methylheptan-2-yl]-2,3,3a,5,6,7-hexahydro-1H-inden-4-ylidene]ethylidene]-4-methylidene-cyclohexan-1-ol
(3S,5Z,7E)-9,10-secocholesta-5,7,10(19)-trien-3-ol
(3beta,5Z,7E)-9,10-secocholesta-5,7,10(19)-trien-3-ol
(3beta,5Z,7e)-9,10-Secocholesta-5,7,10(19)-trien-3-ol
(3beta,Z,7E)-9,10-Secocholesta-5,7,10(19)-trien-3-ol
(5E,7E)-9,10-Secocholesta-5,7,10-trien-3-ol
(5Z,7E)-(3S)-9,10-seco-5,7,10(19)-cholestatrien-3-ol
(5Z,7E)-(3S)-9,10-secocholesta-5,7,10(19)-trien-3-ol
(5Z,7e)-(3S)-9,10-Secocholesta-5,7,10(19)-trien-3-ol
1406-16-2
25(OH)D
3-beta,Z,7E-9,10-Secocholestr-5,7,10(19)-trien-3-ol
47763_SUPELCO
57651-82-8
67-97-0
7-Dehydrocholesterol activated
7-Dehydrocholesterol, Activated
7-Dehydrocholesterol, irradiated
7-Dehydrocholestrol, activated
8024-19-9
8050-67-7
89193_FLUKA
9,10-Seco(5Z,7E)-5,7,10(19)-cholestatrien-3-ol
9,10-Seco(5Z,7E)-5,7,10(19)-cholestatrien-3beta-ol
9,10-Secocholesta-5(Z),7(E),10(19)-trien-3(.beta.)-ol
9,10-Secocholesta-5,7,10(19)-trien-3-beta-ol
9,10-Secocholesta-5,7,10(19)-trien-3-ol
9,10-Secocholesta-5,7,10-trien-3-ol
AB1002422
AC-11697
AC1L1ECK
AC1L1M23
AC1LU7IZ
AC1NQXLN
AC1NR2UO
AC1NR2UR
AC1NR2UU
AC1NS4AJ
AC1NSHJX
AC1O5EOF
AC1O7GAV
AC1O7GQ3
AC1O8FEU
AC1O8PWJ
AC1OF2GI
AC1OF2GL
AC1OIEW5
AC1OIEWB
ACon1_001997
Activated 7-dehydrocholesterol
Arachitol
BPBio1_000460
BSPBio_000418
BSPBio_002408
Bio-0845
C05443
C1357_SIAL
C27H44O
C9756_SIGMA
C9774_SIAL
CAS-67-97-0
CC
CCRIS 5813
CCRIS 6286
CHEBI:283119
CHEBI:28940
CHEMBL1042
CHEMBL432780
CID10000117
CID10045875
CID10340013
CID10883523
CID10894379
CID11014566
CID11025493
CID11058152
CID11463269
CID1548921
CID2735
CID5280795
CID5283710
CID5283711
CID5283712
CID5353527
CID5363362
CID6221
CID6432644
CID6604201
CID6604662
CID6708595
CID6713938
CID6992015
CID6992016
CID7067439
CID7067440
CID7251172
CID7251174
CID9821465
Calciol
Cholecalciferol
Cholecalciferol (D3)
Cholecalciferol (JP15/USP)
Cholecalciferol D3
Cholecalciferol [USAN:BAN:JAN]
Cholecalciferol, D3
Cholecalciferolum
 
Colecalciferol
Colecalciferol (INN)
Colecalciferolo
Colecalciferolo [DCIT]
Colecalciferolum
Colecalciferolum [INN-Latin]
Colecalcipherol
D00188
D3-Vicotrat
D3-Vigantol
DB00169
Delsterol
Delta-D
Delta-D (TN)
Deparal
Devaron
DivK1c_006276
Duphafral D3 1000
EINECS 200-673-2
EINECS 215-797-2
EPA Pesticide Chemical Code 202901
Ebivit
FeraCol
Granuvit D3
HMS1569E20
HMS2092M12
HSDB 820
I05-0041
Irradiated 7-dehydrocholesterol
KBio1_001220
KBio2_001643
KBio2_004211
KBio2_006779
KBio3_001628
KBioGR_001602
KBioSS_001643
LMST03020001
LMST03020219
LMST03020220
LMST03020221
LS-1570
LS-825
LT00244775
MEGxm0_000458
Micro-dee
MolPort-001-740-051
MolPort-001-785-972
MolPort-003-666-021
MolPort-004-946-964
NCGC00016301-01
NCGC00017328-01
NCGC00091072-01
NCGC00142511-01
NCGC00159331-02
NCGC00159331-04
NCGC00178668-01
NCGC00179565-01
NCGC00179565-02
NEO Dohyfral D3
NSC 375571
NSC-375571
NSC375571
Oleovitamin D3
Prestwick0_000429
Prestwick1_000429
Prestwick2_000429
Prestwick3_000429
Prestwick_63
Provitamine
Provitina
Quintox
Rampage
Ricketon
SMP1_000068
SPBio_001298
SPBio_002357
SR-05000001559
SR-05000001559-3
ST057172
SpecPlus_000180
Spectrum2_001369
Spectrum3_000764
Spectrum4_001201
Spectrum_001163
TNP00266
Trivitan
UNII-1C6V77QF41
UPCMLD-DP152
UPCMLD-DP152:001
VITAMIN D
VITAMIN D3 POWDER
VITAMIN_D3
Vi-De3
Vi-de-3-hydrosol
VidDe-3-hydrosol
Videkhol
Vigantol
Vigorsan
Vitamin D3
Vitamin D3 emulsifiable
Vitinc Dan-Dee-3
ZINC04474460
ZINC04492874
ZINC04492875
ZINC04492876
ZINC04492878
bmse000507
calciol
cholecalciferol
delta-D
vitamin d-3
6Trace ElementsPhase 43900
7vitamin dPhase 41524
8VitaminsPhase 43857
9MicronutrientsPhase 43901
10ErgocalciferolsPhase 4923
11Bone Density Conservation AgentsPhase 4, Phase 3, Phase 22600
12DiphosphonatesPhase 4, Phase 3, Phase 2381
13Vitamin D2NutraceuticalPhase 4923
14CalciferolNutraceuticalPhase 41074
15
Etidronic acidapprovedPhase 3427414-83-73305
Synonyms:
(1-Hydroxyethylene)diphosphonic acid
(1-Hydroxyethylidene)bis(phosphonic acid)
(1-Hydroxyethylidene)bisphosphonic acid
(1-Hydroxyethylidene)diphoshonic acid
(1-Hydroxyethylidene)diphosphonic acid
(1-hydroxy-1-phosphonoethyl)phosphonic acid
(1-hydroxyethane-1,1-diyl)bis(phosphonic acid)
(Hydroxyethylidene)diphosphonic acid
0-02-00-00171 (Beilstein Handbook Reference)
1,1,1-Ethanetriol diphosphonate
1-HYDROXY-1,1-DIPHOSPHONOETHANE
1-Hydroxy-1,1-diphosphonoethane
1-Hydroxyethane-1,1,-diphosphonic acid
1-Hydroxyethane-1,1-bisphosphonic acid
1-Hydroxyethane-1,1-diphosphonate
1-Hydroxyethane-1,1-diphosphonic acid
1-Hydroxyethanediphosphonic acid
1-Hydroxyethylidene 1,1-diphosphonic acid
1-Hydroxyethylidene-1,1-biphosphonate
1-Hydroxyethylidene-1,1-bisphosphonate
1-Hydroxyethylidene-1,1-diphosphonic acid
1-Hydroxyethylidenediphosphonic acid
1-hydroxyethane 1,1-diphosphonic acid
1000SL
100511-44-2
103736-66-9
106908-76-3
129130-42-3
138360-84-6
14860-53-8 (tetra-potassium salt)
192526-55-9
2809-21-4
303177-33-5
51888-66-5
54342_ALDRICH
54342_FLUKA
66216-98-6
853028-38-3
85985-26-8
86159-18-4
AC1L1FMT
Acetodiphosphonic acid
Acide etidronique
Acide etidronique [INN-French]
Acido etidronico
Acido etidronico [INN-Spanish]
Acidum etidronicum
Acidum etidronicum [INN-Latin]
BPBio1_000997
BRN 1789291
BSPBio_000905
Bio-0708
C07736
CHEBI:170675
CHEBI:4907
CHEMBL871
 
CID3305
Cintichem Technetium 99m Hedspa
D02373
DB01077
Dequest 2010
Dequest 2015
Dequest Z 010
Didronel
Didronel IV
Diphosphonate (base)
EHDP
EINECS 220-552-8
Ethane-1-hydroxy-1,1-bisphosphonate
Ethane-1-hydroxy-1,1-bisphosphonic acid
Ethane-1-hydroxy-1,1-diphosphonate
Ethane-1-hydroxy-1,1-diphosphonic acid
Etidronate
Etidronate Disodium
Etidronate disodium
Etidronic acid
Etidronic acid (USAN/INN)
Etidronic acid [USAN:INN:BAN]
Etidronic acid monohydrate
Etidronsaeure
Etidronsäure
Ferrofos 510
H0587
H6773_ALDRICH
H6773_SIGMA
HEDP
HSDB 5898
Hydroxyethane-1,1-diphosphonic acid
Hydroxyethanediphosphonic acid
I14-1271
Jsp005415
LS-106637
MLS002207267
MLS002695948
MPI Stannous Diphosphonate
MolPort-001-786-542
NCGC00159352-02
NSC 227995
NSC227995
Osteoscan
Oxyethylidenediphosphonic acid
Phosphonic acid, 1-hydroxy-1,1-ethanediyl ester
Prestwick0_000863
Prestwick1_000863
Prestwick2_000863
Prestwick3_000863
RP 61
SMR000038750
SPBio_002826
STK721995
Turpinal SL
UNII-M2F465ROXU
ethane-1-hydroxy-1,1-bisphosphonic acid
etidronate
16
DenosumabapprovedPhase 3, Phase 2120615258-40-7
Synonyms:
615258-40-7
AMG-162
D03684
Denosumab
 
Denosumab (USAN)
Denosumab (genetical recombination)
Denosumab (genetical recombination) (JAN)
Prolia
Xgeva
17Risedronate SodiumPhase 398115436-72-1
18Calcium, DietaryPhase 34678
19calcium channel blockersPhase 31743
20HormonesPhase 311748
21
Zoledronic acidPhase 3, Phase 2286118072-93-868740
Synonyms:
(1-Hydroxy-2-imidazol-1-ylethylidene)diphosphonic acid
(1-hydroxy-2-(1H-imidazol-1-yl)ethylidene)bisphosphonic acid
(1-hydroxy-2-imidazol-1-yl-1-phosphonoethyl)phosphonic acid
(1-hydroxy-2-imidazol-1-yl-phosphonoethyl)phosphonic acid monohydrate
118072-93-8
2-(imidazol-1-yl)-1-hydroxyethane-1,1-diphosphonic acid
2-(imidazol-1-yl)-1-hydroxyethylidene-1,1-bisphosphonic acid
AC-1092
AC1L2ACJ
AC1Q6RN3
AKOS005145739
Aclasta
BIDD:GT0292
BIDD:PXR0134
Bio-0112
Bisphosphonate 3
C088658
CGP 42'446
CGP 42446
CGP 42446A
CGP-42'446
CGP-42446
CHEBI:46557
CHEMBL924
CID68740
D08689
 
DB00399
FT-0082657
HMS2089O09
I06-0710
KS-1132
LS-181815
MolPort-002-885-874
MolPort-003-850-890
NCGC00159521-02
NCGC00159521-03
NSC721517
Novartis brand of zoledronic acid
Reclast
Reclast (TN)
S00092
S1314_Selleck
UNII-70HZ18PH24
ZOL
Zoledronate
Zoledronic acid
Zoledronic acid (INN)
Zoledronic acid [USAN:INN]
Zometa
Zometa (Novartis)
Zometa (TN)
Zometa Concentrate
Zometa, Zomera, Aclasta and Reclast, Zoledronic Acid
[1-hydroxy-2-(1H-imidazol-1-yl)ethane-1,1-diyl]bis(phosphonic acid)
22Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 39988
23Hormone AntagonistsPhase 310002
24ImmunoglobulinsPhase 24477
25AntibodiesPhase 24477
26
Cyclophosphamideapproved, investigationalPhase 1264350-18-0, 6055-19-22907
Synonyms:
(+-)-Cyclophosphamide
(-)-Cyclophosphamide
(RS)-Cyclophosphamide
1-(bis(2-chloroethyl)amino)-1-oxo-2-aza-5-oxaphosphoridine
1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridin
2-[Bis(2-chloroethylamino)]-tetrahydro-2H-1,3,2-oxazaphosphorine-2-oxide
4-Hydroxy-cyclophosphan-mamophosphatide
50-18-0
60007-95-6
6055-19-2 (monohydrate)
75526-90-8
AC1L1EQQ
AI3-26198
ASTA
ASTA B518
Asta B 518
B 518
B-518
BRN 0011744
BSPBio_002099
Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester
C 0768
C07888
C7H15Cl2N2O2P
CB 4564
CB-4564
CCRIS 188
CHEBI:4027
CHEMBL32520
CHEMBL88
CID2907
CP
CPA
CTX
CY
Ciclofosfamida
Ciclofosfamida [INN-Spanish]
Ciclofosfamide
Ciclophosphamide
Ciclophosphamide [INN]
Clafen
Claphene
Cycloblastin
Cyclophosphamid
Cyclophosphamide
Cyclophosphamide (INN)
Cyclophosphamide (TN)
Cyclophosphamide (anhydrous form)
Cyclophosphamide (anhydrous)
Cyclophosphamide Monohydrate
Cyclophosphamide Sterile
Cyclophosphamide anhydrous
Cyclophosphamide, (+-)-Isomer
Cyclophosphamides
Cyclophosphamidum
Cyclophosphamidum [INN-Latin]
Cyclophosphan
Cyclophosphane
Cyclophosphanum
Cyclophosphoramide
Cyclostin
Cyklofosfamid
Cyklofosfamid [Czech]
Cytophosphan
Cytophosphane
Cytoxan
Cytoxan (TN)
Cytoxan Lyoph
D,L-Cyclophosphamide
D07760
DB00531
 
DivK1c_000246
EINECS 200-015-4
EU-0100238
Endoxan
Endoxan R
Endoxan-Asta
Endoxana
Endoxanal
Endoxane
Enduxan
Genoxal
HMS2090A12
HSDB 3047
Hexadrin
IDI1_000246
KBio1_000246
KBio2_001338
KBio2_003906
KBio2_006474
KBio3_001319
KBioGR_000888
KBioSS_001338
LS-1302
LS-99787
Ledoxina
Lopac-C-0768
Lopac0_000238
Lyophilized Cytoxan
Mitoxan
MolPort-001-783-420
N,N-Bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide
N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
NCGC00015209-01
NCGC00015209-03
NCGC00015209-06
NCGC00091741-02
NCGC00091741-03
NCI-C04900
NCI60_002097
NINDS_000246
NSC 26271
NSC-26271
NSC26271
NSC273033
NSC273034
Neosar
Occupation, cyclophosphamide exposure
Procytox
RCRA waste no. U058
Rcra Waste Number U058
Rcra waste number U058
Revimmune
S1217_Selleck
SK 20501
SPBio_001071
STK177249
STOCK2S-91217
Semdoxan
Sendoxan
Senduxan
Spectrum2_001146
Spectrum3_000370
Spectrum4_000304
Spectrum5_000795
Spectrum_000858
UNII-6UXW23996M
WLN: T6MPOTJ BO BN2G2G
Zyklophosphamid
Zyklophosphamid [German]
bis(2-Chloroethyl)phosphami de cyclic propanolamide
bis(2-Chloroethyl)phosphamide cyclic propanolamide ester
cyclophosphamide
27
Busulfanapproved, investigationalPhase 150655-98-12478
Synonyms:
1, 4-Dimethanesulfonoxybutane
1, 4-Dimethylsulfonoxybutane
1, {4-Bis[methanesulfonoxy]butane}
1,4-BUTANEDIOL DIMETHANESULFONATE
1,4-Bis(methanesulfonoxy)butane
1,4-Bis(methanesulfonyloxy)butane
1,4-Bis[methanesulfonoxy]butane
1,4-Butanedi yl dimethanesulfonate
1,4-Butanediol dimethanesulfonate
1,4-Butanediol dimethanesulphonate
1,4-Butanediol dimethylsulfonate
1,4-Butanediol, dimethanesulfonate
1,4-Butanediol, dimethanesulphonate
1,4-Butanediyl dimethanesulfonate
1,4-Di(methylsulfonoxy)butane
1,4-Dimesyloxybutane
1,4-Dimethane sulfonyl oxybutane
1,4-Dimethanesulfonoxybutane
1,4-Dimethanesulfonoxylbutane
1,4-Dimethanesulfonyloxybutane
1,4-Dimethanesulphonyloxybutane
1,4-Dimethylsulfonoxybutane
1,4-Dimethylsulfonyloxybutane
2041 C. B
2041 C. B.
2041 C.B
2041 C.B.
4-((Methylsulfonyl)oxy)butyl methanesulfonate
4-methylsulfonyloxybutyl methanesulfonate
55-98-1
AC-198
AC1L1DRQ
AC1Q4GRQ
AI3-25012
AKOS003614975
AN 33501
Ambap55-98-1
B1022
B2635_FLUKA
B2635_SIGMA
BRN 1791786
BSPBio_001920
BUSULFAN (1,4-BUTANEDIOL, DIMETHANESULFONATE)
Bisulfex
Busilvex
Busulfan
Busulfan (JP15/USP/INN)
Busulfan GlaxoSmithKline Brand
Busulfan Orphan Brand
Busulfan Wellcome
Busulfan Wellcome Brand
Busulfan [INN:JAN]
Busulfano
Busulfano [INN-Spanish]
Busulfanum
Busulfanum [INN-Latin]
Busulfex
Busulphan
Busulphane
Butanedioldimethanesulfonate
Buzulfan
C.B. 2041
C6H14O6S2
CB 2041
CCRIS 418
CHEBI:28901
CHEMBL820
CID2478
CPD000058613
Citosulfan
D002066
D00248
DB01008
DivK1c_000847
EINECS 200-250-2
FT-0083567
G.T. 41
GT 2041
GT 41
Glaxo Wellcome Brand of Busulfan
GlaxoSmithKline Brand of Busulfan
Glyzophrol
HMS1920I07
HMS2091O09
HMS502K09
 
HSDB 7605
I09-1371
IDI1_000847
InChI=1/C6H14O6S2/c1-13(7,8)11-5-3-4-6-12-14(2,9)10/h3-6H2,1-2H3
KBio1_000847
KBio2_000512
KBio2_003080
KBio2_005648
KBio3_001420
KBioGR_000698
KBioSS_000512
LS-1358
Leucosulfan
MLS001076666
MYLERAN (TN)
Mablin
Methanesulfonic
Methanesulfonic acid, tetram ethylene ester
Methanesulfonic acid, tetramethylene ester
Mielevcin
Mielosan
Mielucin
Milecitan
Mileran
Misulban
Mitosan
Mitostan
MolPort-001-783-406
Myeleukon
Myeloleukon
Myelosan
Myelosanum
Mylecytan
Myleran
Myleran Tablets
Myleran tablets
Myleran, Busulfex, Busulfan
Mylerlan
NCGC00090905-01
NCGC00090905-02
NCGC00090905-03
NCGC00090905-04
NCGC00090905-05
NCGC00090905-06
NCGC00090905-07
NCI-C01592
NCI60_041640
NCIMech_000192
NINDS_000847
NSC 750
NSC-750
NSC-750sulphabutin
NSC750
Orphan Brand of Busulfan
Prestwick_989
S1692_Selleck
SAM002554887
SMR000058613
SPBio_000253
SPECTRUM1500152
ST50825921
Spectrum2_000067
Spectrum3_000320
Spectrum4_000259
Spectrum5_000928
Spectrum_000092
Sulfabutin
Sulfabutin (VAN)
Sulphabutin
Tetramethylene Dimethane Sulfonate
Tetramethylene bis(methanesulfonate)
Tetramethylene bis[methanesulfonate]
Tetramethylene dimethane sulfonate
Tetramethylene {bis[methanesulfonate]}
Tetramethylenester Kyseliny Methansulfonove
Tetramethylenester kyseliny methansulfonove
Tetramethylenester kyseliny methansulfonove [Czech]
UNII-G1LN9045DK
WLN: WS1&O4OSW1
Wellcome Brand of Busulfan
Wellcome, Busulfan
X 149
acid, tetramethylene ester
alkylating agent: crosslinks guanine residues
busulfan
butane-1,4-diyl dimethanesulfonate
n-Butane-1,3-di(methylsulfonate)
28CyclosporinsPhase 1873
29Psychotropic Drugs5501
30Tranquilizing Agents3597
31Lithium Carbonate211
32Central Nervous System Depressants10016
33Antidepressive Agents2367
34Antimanic Agents663
35CitrateNutraceutical1001
36
Citric Acidnutraceutical100177-92-9311
Synonyms:
2-Hydroxy-1,2,3-propanetricarboxylate
2-Hydroxy-1,2,3-propanetricarboxylic acid
2-Hydroxytricarballylic acid
3-Carboxy-3-hydroxypentane-1,5-dioate
3-Carboxy-3-hydroxypentane-1,5-dioic acid
Aciletten
Anhydrous citrate
Anhydrous citric acid
Chemfill
Citraclean
 
Citrate
Citretten
Citric acid
Citro
Citronensäure
E 330
Hydrocerol A
Kyselina citronova
Suby G
Uro-trainer
beta-Hydroxytricarballylate
beta-Hydroxytricarballylic acid

Interventional clinical trials:

(show all 28)
idNameStatusNCT IDPhase
1Study of Teriparatide (FORTEO) to Treat Adults With Osteogenesis ImperfectaCompletedNCT00131469Phase 4
2Bisphosphonate Therapy for Osteogenesis ImperfectaCompletedNCT00159419Phase 4
3Effect of High-Dose Vitamin D on Bone Density in Osteogenesis ImperfectaCompletedNCT01713231Phase 4
4Efficacy and Safety of Alendronate in Chinese Children or Adolescents With Osteogenesis ImperfectaCompletedNCT02303873Phase 4
5Pamidronate to Treat Osteogenesis Imperfecta in ChildrenCompletedNCT00005901Phase 3
6An Efficacy and Safety Trial of Intravenous Zoledronic Acid in Infants Less Than One Year of Age, With Severe Osteogenesis ImperfectaCompletedNCT00982124Phase 3
7Safety and Efficacy of Risedronate in the Treatment of Osteogenesis Imperfecta in ChildrenCompletedNCT00106028Phase 3
8Multicenter,Single-arm Study to Evaluate Efficacy, Safety, & Pharmacokinetics of Denosumab in Children w/ OIRecruitingNCT02352753Phase 3
9Growth Hormone Therapy in Osteogenesis ImperfectaActive, not recruitingNCT00001305Phase 3
10Bisphosphonate Treatment of Osteogenesis ImperfectaCompletedNCT00063479Phase 2
11Translational Therapy in Patients With Osteogenesis Imperfecta - A Pilot Trial on Treatment With the Rankl-Antibody DenosumabCompletedNCT01799798Phase 2
12Safety, Pharmacokinetics and Pharmacodynamics of BPS804 in Osteogenesis ImperfectaCompletedNCT01417091Phase 2
13Zoledronic Acid in Children (1 -17 Years) With Severe Osteogenesis ImperfectaCompletedNCT00131118Phase 2
14Efficacy and Safety of Neridronate (Nerixia®)to Treat Osteoporosis in Patients With TM and TICompletedNCT01140321Phase 2
15The Effect of Treatment With Teriparatide and Zoledronic Acid in Patients With Osteogenesis ImperfectaRecruitingNCT01679080Phase 2
16Repeated Infusions of Mesenchymal Stromal Cells in Children With Osteogenesis ImperfectaCompletedNCT01061099Phase 1
17Treatment of Severe Osteogenesis Imperfecta by Allogeneic Bone Marrow TransplantationCompletedNCT00705120Phase 1
18Stromal Therapy of Osteodysplasia After Allogeneic Bone Marrow TransplantationCompletedNCT00186914Phase 1
19Mesenchymal Stem Cell Based Therapy for the Treatment of Osteogenesis ImperfectaRecruitingNCT02172885Phase 1
20Marrow Mesenchymal Cell Therapy for Osteogenesis Imperfecta: A Pilot StudyCompletedNCT00187018
21Prevention of Post Operative Bone Loss in ChildrenCompletedNCT00655681
22The Influence of Bisphosphonates in the Oral Cavity in ChildrenCompletedNCT00402064
23Trial of Lithium Carbonate for Treatment of Osteoporosis-pseudoglioma SyndromeCompletedNCT01108068
24Evaluation and Intervention for the Effects of Osteogenesis ImperfectaRecruitingNCT00001594
25BBD Longitudinal Study of Osteogenesis ImperfectaRecruitingNCT02432625
26Urinary Biomarkers of OI PathobiologyRecruitingNCT02531087
27Growth Hormone for Osteoporosis Pseudoglioma SyndromeNot yet recruitingNCT01614171
28Effects of a Physical Rehabilitation Program Using the Nintendo Wii on Children With Osteogenesis Imperfecta (OI)TerminatedNCT02542540

Search NIH Clinical Center for Osteogenesis Imperfecta

Inferred drug relations via UMLS65/NDF-RT43:


Cochrane evidence based reviews: osteogenesis imperfecta

Genetic Tests for Osteogenesis Imperfecta

About this section

Genetic tests related to Osteogenesis Imperfecta:

id Genetic test Affiliating Genes
1 Osteogenesis Imperfecta22

Anatomical Context for Osteogenesis Imperfecta

About this section

MalaCards organs/tissues related to Osteogenesis Imperfecta:

33
Bone, Skin, Testes, Breast, Bone marrow, Brain, T cells

Animal Models for Osteogenesis Imperfecta or affiliated genes

About this section

MGI Mouse Phenotypes related to Osteogenesis Imperfecta:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.3BMP1, COL1A1, COL1A2, P3H1, TMEM38B, WNT1
2MP:00053718.2BMP1, COL1A1, COL1A2, FKBP10, IFITM5, P3H1
3MP:00053827.6BMP1, COL1A1, FKBP10, IFITM5, PPIB, SPARC
4MP:00053787.3BMP1, COL1A1, COL1A2, CRTAP, FKBP10, P3H1
5MP:00053906.0BMP1, COL1A1, COL1A2, CRTAP, FKBP10, IFITM5

Publications for Osteogenesis Imperfecta

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Articles related to Osteogenesis Imperfecta:

(show top 50)    (show all 953)
idTitleAuthorsYear
1
Safety and efficacy of denosumab in children with osteogenesis imperfecta - a first prospective trial. (26944820)
2016
2
Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta. (26467156)
2015
3
A rare combination of amniotic constriction band with osteogenesis imperfecta. (26561227)
2015
4
Structure-mechanics relationships of collagen fibrils in the osteogenesis imperfecta mouse model. (26468064)
2015
5
Anthropometric and Nutritional Parameters in Egyptian Children and Adolescents with Osteogenesis Imperfecta. (25766874)
2015
6
Development of a high-throughput resequencing array for the detection of pathogenic mutations in osteogenesis imperfecta. (25742658)
2015
7
Interdisciplinary Care Improves Functional Mobility in an Individual with Type IX Osteogenesis Imperfecta. (25737674)
2015
8
A cephalometric method to diagnosis the craniovertebral junction abnormalities in osteogenesis imperfecta patients. (25810828)
2015
9
Osteogenesis imperfecta--multi-systemic and life-long disease that affects whole family. (25145021)
2014
10
Effect of intravenous pamidronate treatment in children with osteogenesis imperfecta. (25233970)
2014
11
Serum Sclerostin Levels are Decreased in Adult Patients with Different Types of Osteogenesis Imperfecta. (24203063)
2013
12
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. (22949511)
2013
13
Spinal deformities and Lung Function in Adults with Osteogenesis Imperfecta. (24308436)
2013
14
Evaluation of the severity of malocclusions in children affected by osteogenesis imperfecta with the peer assessment rating and discrepancy indexes. (23452967)
2013
15
Prenatal diagnosis of a missense mutation of c.2279G>A, Gly760Glu in exon 37 of COL1A2 in a fetus with familial osteogenesis imperfecta type IV and favorable outcome. (23548243)
2013
16
Phenotype and genotype analysis of Chinese patients with osteogenesis imperfecta type V. (23977282)
2013
17
Valvular and aortic diseases in osteogenesis imperfecta. (23791715)
2013
18
Intravenous pamidronate treatment in children with moderate-to-severe osteogenesis imperfecta started under three years of age. (23735642)
2013
19
Osteogenesis imperfecta type I: second-trimester diagnosis and incidental identification of a dominant COL1A1 deletion mutation in the paucisymptomatic father. (22795108)
2012
20
Assessment of quality of life of parents of children with osteogenesis imperfecta. (23214306)
2012
21
Safety and efficacy of a 1-year treatment with zoledronic acid compared with pamidronate in children with osteogenesis imperfecta. (22876543)
2012
22
Identification of a deletion mutation in the short flanking repeat region of exon 44 of the COL1A1 gene in a fetus with osteogenesis imperfecta type II. (22795119)
2012
23
Dentinogenesis imperfecta associated with osteogenesis imperfecta. (23162594)
2012
24
Intravitreal bevacizumab for treatment of choroidal neovascularization associated with osteogenesis imperfecta. (22569391)
2012
25
Osteogenesis imperfecta presenting as aneurysmal subarachnoid haemorrhage in a 53-year-old man. (22674700)
2011
26
Osteogenesis imperfecta, multiple intra-abdominal arterial dissections and a ruptured dissecting-type intracranial aneurysm. (22005702)
2011
27
Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding. (20089953)
2010
28
The potential research impact of patient reported outcomes on osteogenesis imperfecta. (20458644)
2010
29
Incomplete abortion at 13 weeks' gestation due to extreme pelvic deformity in a woman with severe osteogenesis imperfecta. (20143985)
2010
30
Metaphyseal bands in osteogenesis imperfecta. (20351992)
2010
31
Amelioration of a mouse model of osteogenesis imperfecta with hematopoietic stem cell transplantation: microcomputed tomography studies. (20417683)
2010
32
Intravenous pamidronate in osteogenesis imperfecta type VII. (19137231)
2009
33
A fracture risk assessment model of the femur in children with osteogenesis imperfecta (OI) during gait. (19683956)
2009
34
A novel arginine-to-cysteine substitution in the triple helical region of the alpha1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers-Danlos phenotype. (18028452)
2008
35
Case report: endourologic treatment for a ureteral stone in a patient with osteogenesis imperfecta. (18355141)
2008
36
Cochlear implantation in 3 patients with osteogenesis imperfecta: imaging, surgery and programming issues. (18057871)
2008
37
Prospective comparative case study of uterine collagen in a woman with osteogenesis imperfecta type 1 who had previously ruptured her uterus. (17999312)
2007
38
Second-trimester diagnosis of osteogenesis imperfecta associated with schizencephaly by sonography. (17676222)
2007
39
Gene mutation analysis of a Chinese family with osteogenesis imperfecta]. (16604495)
2006
40
Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect. (11771667)
2002
41
Bisphosphonate therapy for severe osteogenesis imperfecta. (11086652)
2000
42
Mutations in the carboxyl-terminal propeptide of the pro alpha 1(I) chain of type I collagen result in defective chain association and produce lethal osteogenesis imperfecta. (8349697)
1993
43
A single amino acid deletion in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III. (8444468)
1993
44
Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta. (2052622)
1991
45
Osteogenesis imperfecta: translation of mutation to phenotype. (1895312)
1991
46
Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent. (2339700)
1990
47
Hydrocephalus of intrauterine onset in perinatally lethal osteogenesis imperfecta: clinical, sonographic, and pathologic correlations. (3062601)
1988
48
A point mutation in a type I procollagen gene converts glycine 748 of the alpha 1 chain to cysteine and destabilizes the triple helix in a lethal variant of osteogenesis imperfecta. (3667599)
1987
49
50

Variations for Osteogenesis Imperfecta

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Expression for genes affiliated with Osteogenesis Imperfecta

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Search GEO for disease gene expression data for Osteogenesis Imperfecta.

Pathways for genes affiliated with Osteogenesis Imperfecta

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GO Terms for genes affiliated with Osteogenesis Imperfecta

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Cellular components related to Osteogenesis Imperfecta according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1collagen type I trimerGO:000558410.0COL1A1, COL1A2
2proteinaceous extracellular matrixGO:00055789.4BMP1, SPARC

Biological processes related to Osteogenesis Imperfecta according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1collagen catabolic processGO:003057410.1COL1A1, COL1A2
2protein peptidyl-prolyl isomerizationGO:000041310.1FKBP10, PPIB
3bone developmentGO:006034810.0PPIB, WNT1
4cellular response to amino acid stimulusGO:007123010.0COL1A1, COL1A2
5skin morphogenesisGO:00435899.9COL1A1, COL1A2
6platelet activationGO:00301689.8COL1A1, COL1A2, SPARC
7negative regulation of angiogenesisGO:00165259.6SERPINF1, SPARC
8ossificationGO:00015039.6BMP1, COL1A1, DSPP
9extracellular matrix disassemblyGO:00226179.5BMP1, COL1A1, COL1A2
10response to peptide hormoneGO:00434349.5COL1A1, SPARC

Sources for Osteogenesis Imperfecta

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet