MCID: OST005
MIFTS: 70

Osteogenesis Imperfecta malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Oral diseases categories

Aliases & Classifications for Osteogenesis Imperfecta

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

Aliases & Descriptions for Osteogenesis Imperfecta:

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


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology10 DOID:12347
Orphanet51 666
UMLS via Orphanet66 C0029434
ICD10 via Orphanet28 Q78.0
MESH via Orphanet37 D010013
ICD1027 Q78.0

Summaries for Osteogenesis Imperfecta

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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 v 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 VEGFR3 signaling in lymphatic endothelium and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. 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 limbs/digits/tail and growth/size/body.

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

Related Diseases for Osteogenesis Imperfecta

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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 Osteogenesis Imperfecta Type 1a
Osteogenesis Imperfecta Type 2a Osteogenesis Imperfecta Type 2b
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
Wnt1-Related Osteogenesis Imperfecta Sparc-Related Osteogenesis Imperfecta

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

(show top 50)    (show all 277)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta, type v31.8CD36, IFITM5
2osteogenesis imperfecta, type ii31.8CD36, COL1A1, COL1A2, CRTAP, P3H1, PPIB
3osteogenesis imperfecta, type vii31.7CD36, CRTAP
4osteogenesis imperfecta, type xii31.5FKBP10, SERPINF1, SP7
5osteogenesis imperfecta, type iii31.3BGLAP, BMP1, CD36, COL1A1, COL1A2, CREB3L1
6osteogenesis imperfecta, type iv31.3CD36, COL1A1, COL1A2, CRTAP, DSPP, FKBP10
7osteoporosis31.3BGLAP, CD36, COL1A1, COL1A2, SP7, WNT1
8bruck syndrome 130.7FKBP10, SP7
9osteogenesis imperfecta, type i11.1
10dentinogenesis imperfecta10.9
11osteogenesis imperfecta, type vi10.9
12osteogenesis imperfecta congenita microcephaly and cataracts10.8
13skeletal dysplasias10.8
14skeletal dysplasia10.8
15secondary syphilis10.8
16connective tissue disease10.8
17osteochondrodysplasia10.8
18mucopolysaccharidosis iva10.8
19mucopolysaccharidosis iv10.8
20bone development disease10.8
21collagen disease10.8
22osteogenesis imperfecta, type ix10.7
23bone fracture10.7
24perinatally lethal osteogenesis imperfecta10.7
25osteogenesis imperfecta, type viii10.7
26osteogenesis imperfecta, type x10.7
27bone structure disease10.7
28osteogenesis imperfecta, type xiii10.7
29osteogenesis imperfecta, type xiv10.7
30osteogenesis imperfecta, type xv10.7
31osteogenesis imperfecta, type xi10.7
32bruck syndrome10.6
33ehlers-danlos syndrome10.6
34aneurysm10.6
35osteogenesis imperfecta, type xvii10.6
36osteogenesis imperfecta, type xvi10.6
37osteoporosis-pseudoglioma syndrome10.6
38osteogenesis imperfecta type 2a10.6
39progressively deforming osteogenesis imperfecta10.6
40col1a1/2-related osteogenesis imperfecta10.5
41osteogenesis imperfecta levin type10.5
42osteogenesis imperfecta type 1a10.5
43high bone mass osteogenesis imperfecta10.5
44gnathodiaphyseal dysplasia10.5
45spinal and bulbar muscular atrophy of kennedy10.5
46dentinogenesis imperfecta, shields type ii10.5
47osteogenesis imperfecta type 2b10.5
48osteonecrosis10.4
49sensorineural hearing loss10.4
50parathyroid gland disease10.4

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 43)
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 malformation of the heart and great vessels typical (50%) HP:0002564
23 scoliosis typical (50%) HP:0002650
24 abnormality of the femur typical (50%) HP:0002823
25 genu valgum typical (50%) HP:0002857
26 slender long bone typical (50%) HP:0003100
27 abnormal cortical bone morphology typical (50%) HP:0003103
28 abnormality of the hip bone typical (50%) HP:0003272
29 abnormal form of the vertebral bodies typical (50%) HP:0003312
30 reduced bone mineral density typical (50%) HP:0004349
31 opacification of the corneal stroma typical (50%) HP:0007759
32 hearing impairment occasional (7.5%) HP:0000365
33 pectus excavatum occasional (7.5%) HP:0000767
34 umbilical hernia occasional (7.5%) HP:0001537
35 thrombocytopenia occasional (7.5%) HP:0001873
36 subcutaneous hemorrhage occasional (7.5%) HP:0001933
37 wormian bones occasional (7.5%) HP:0002645
38 recurrent fractures occasional (7.5%) HP:0002757
39 kyphosis occasional (7.5%) HP:0002808
40 micromelia occasional (7.5%) HP:0002983
41 abnormality of the endocardium occasional (7.5%) HP:0004306
42 short stature occasional (7.5%) HP:0004322
43 visceral angiomatosis occasional (7.5%) HP:0100761

Drugs & Therapeutics for Osteogenesis Imperfecta

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

(show all 21)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PamidronateapprovedPhase 4, Phase 3, Phase 24240391-99-94674
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
2
Teriparatideapproved, investigationalPhase 4, Phase 212852232-67-416133850
Synonyms:
52232-67-4
D06078
Forteo
 
Forteo (TN)
TERIPARATIDE
Teriparatide (USAN/INN)
Teriparatide (genetical recombination)
Teriparatide (genetical recombination) (JAN)
3
AlendronateapprovedPhase 4153121268-17-5, 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
4
Ergocalciferolapproved, nutraceuticalPhase 488550-14-65280793
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 475567-97-06221, 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
6DiphosphonatesPhase 4, Phase 3, Phase 2369
7ErgocalciferolsPhase 4885
8vitamin dPhase 41463
9CalciferolNutraceuticalPhase 41028
10Vitamin D2NutraceuticalPhase 4885
11
Etidronic acidapprovedPhase 3407414-83-73305
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
12
Zoledronic acidPhase 3, Phase 2276118072-93-868740
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)
13Calcium, DietaryPhase 33529
14risedronic acidPhase 397
15
Cyclophosphamideapproved, investigationalPhase 1252550-18-0, 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
16
Busulfanapproved, investigationalPhase 148655-98-12478
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)
17CyclosporinsPhase 1849
18
Lithiumapproved2067439-93-228486
Synonyms:
159577-72-7
201049_ALDRICH
207241_ALDRICH
207241_FLUKA
220914_ALDRICH
248827_ALDRICH
265969_ALDRICH
265977_ALDRICH
265985_ALDRICH
265993_ALDRICH
266000_ALDRICH
278327_ALDRICH
320080_ALDRICH
340421_ALDRICH
3Li
444456_ALDRICH
499811_ALDRICH
62500_FLUKA
64975-42-4
7439-93-2
7580-67-8
AB1003835
AC1MHL68
C15473
CHEBI:30145
CID3028194
D008094
D08133
EINECS 231-102-5
EINECS 231-484-3
Eskalith
HSD690000
HSDB 549
HSDB 647
HSDB 6900
Hydrure de lithium [French]
LITHIUM
LITHIUM HYDRIDE
 
LITHIUM HYDRIDE, 98.6%
LITHIUM ion
LS-88055
LS-88066
LTBB002851
Li
Li(+)
Li(+) cation
Li(+) ion
Lithium
Lithium Carbonate
Lithium [UN1415] [Dangerous when wet]
Lithium [UN1415] [Dangerous when wet]
Lithium atom
Lithium atomic absorption standard solution
Lithium carbonate
Lithium cation
Lithium compounds
Lithium element
Lithium hydride (LiH)
Lithium hydride [UN1414] [Dangerous when wet]
Lithium hydride [UN1414] [Dangerous when wet]
Lithium hydride, fused solid [UN2805] [Dangerous when wet]
Lithium hydride, fused solid [UN2805] [Dangerous when wet]
Lithium monohydride
Lithium, elemental
Lithium, ion
Lithium, ion (li1+)
Lithium, metallic
Lithium-6Li
LithoTab
Lithobid
MolPort-003-926-239
MolPort-003-927-072
Normothymin-E
Normothymin-E (TN)
UN1414
UN1415
UN2805
litio
19Lithium Carbonate206
20
Citric Acidnutraceutical78477-92-9311
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
21CitrateNutraceutical784

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
6Safety and Efficacy of Risedronate in the Treatment of Osteogenesis Imperfecta in ChildrenCompletedNCT00106028Phase 3
7Multicenter,Single-arm Study to Evaluate Efficacy, Safety, & Pharmacokinetics of Denosumab in Children w/ OIRecruitingNCT02352753Phase 3
8An Efficacy and Safety Trial of Intravenous Zoledronic Acid in Infants Less Than One Year of Age, With Severe Osteogenesis ImperfectaActive, not recruitingNCT00982124Phase 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

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Genetic tests related to Osteogenesis Imperfecta:

id Genetic test Affiliating Genes
1 Osteogenesis Imperfecta22 24

Anatomical Context for Osteogenesis Imperfecta

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MalaCards organs/tissues related to Osteogenesis Imperfecta:

33
Bone, Skin, Testes, Bone marrow, Heart, Breast, Colon

Animal Models for Osteogenesis Imperfecta or affiliated genes

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MGI Mouse Phenotypes related to Osteogenesis Imperfecta:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.8COL1A1, COL1A2, FKBP10, P3H1, SERPINH1, SP7
2MP:00053789.1BMP1, CD36, COL1A1, COL1A2, CREB3L1, CRTAP
3MP:00053909.0BMP1, CD36, COL1A1, COL1A2, CREB3L1, CRTAP

Publications for Osteogenesis Imperfecta

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Articles related to Osteogenesis Imperfecta:

(show top 50)    (show all 924)
idTitleAuthorsYear
1
Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta. (26467156)
2015
2
A rare combination of amniotic constriction band with osteogenesis imperfecta. (26561227)
2015
3
Structure-mechanics relationships of collagen fibrils in the osteogenesis imperfecta mouse model. (26468064)
2015
4
Anthropometric and Nutritional Parameters in Egyptian Children and Adolescents with Osteogenesis Imperfecta. (25766874)
2015
5
Development of a high-throughput resequencing array for the detection of pathogenic mutations in osteogenesis imperfecta. (25742658)
2015
6
Interdisciplinary Care Improves Functional Mobility in an Individual with Type IX Osteogenesis Imperfecta. (25737674)
2015
7
A cephalometric method to diagnosis the craniovertebral junction abnormalities in osteogenesis imperfecta patients. (25810828)
2015
8
Osteogenesis imperfecta--multi-systemic and life-long disease that affects whole family. (25145021)
2014
9
Effect of intravenous pamidronate treatment in children with osteogenesis imperfecta. (25233970)
2014
10
Serum Sclerostin Levels are Decreased in Adult Patients with Different Types of Osteogenesis Imperfecta. (24203063)
2013
11
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
12
Spinal deformities and Lung Function in Adults with Osteogenesis Imperfecta. (24308436)
2013
13
Evaluation of the severity of malocclusions in children affected by osteogenesis imperfecta with the peer assessment rating and discrepancy indexes. (23452967)
2013
14
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
15
Phenotype and genotype analysis of Chinese patients with osteogenesis imperfecta type V. (23977282)
2013
16
Valvular and aortic diseases in osteogenesis imperfecta. (23791715)
2013
17
Intravenous pamidronate treatment in children with moderate-to-severe osteogenesis imperfecta started under three years of age. (23735642)
2013
18
Osteogenesis imperfecta type I: second-trimester diagnosis and incidental identification of a dominant COL1A1 deletion mutation in the paucisymptomatic father. (22795108)
2012
19
Assessment of quality of life of parents of children with osteogenesis imperfecta. (23214306)
2012
20
Safety and efficacy of a 1-year treatment with zoledronic acid compared with pamidronate in children with osteogenesis imperfecta. (22876543)
2012
21
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
22
Dentinogenesis imperfecta associated with osteogenesis imperfecta. (23162594)
2012
23
Intravitreal bevacizumab for treatment of choroidal neovascularization associated with osteogenesis imperfecta. (22569391)
2012
24
Osteogenesis imperfecta presenting as aneurysmal subarachnoid haemorrhage in a 53-year-old man. (22674700)
2011
25
Osteogenesis imperfecta, multiple intra-abdominal arterial dissections and a ruptured dissecting-type intracranial aneurysm. (22005702)
2011
26
Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding. (20089953)
2010
27
The potential research impact of patient reported outcomes on osteogenesis imperfecta. (20458644)
2010
28
Incomplete abortion at 13 weeks' gestation due to extreme pelvic deformity in a woman with severe osteogenesis imperfecta. (20143985)
2010
29
Metaphyseal bands in osteogenesis imperfecta. (20351992)
2010
30
Amelioration of a mouse model of osteogenesis imperfecta with hematopoietic stem cell transplantation: microcomputed tomography studies. (20417683)
2010
31
Intravenous pamidronate in osteogenesis imperfecta type VII. (19137231)
2009
32
A fracture risk assessment model of the femur in children with osteogenesis imperfecta (OI) during gait. (19683956)
2009
33
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
34
Case report: endourologic treatment for a ureteral stone in a patient with osteogenesis imperfecta. (18355141)
2008
35
Cochlear implantation in 3 patients with osteogenesis imperfecta: imaging, surgery and programming issues. (18057871)
2008
36
Prospective comparative case study of uterine collagen in a woman with osteogenesis imperfecta type 1 who had previously ruptured her uterus. (17999312)
2007
37
Second-trimester diagnosis of osteogenesis imperfecta associated with schizencephaly by sonography. (17676222)
2007
38
Gene mutation analysis of a Chinese family with osteogenesis imperfecta]. (16604495)
2006
39
Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect. (11771667)
2002
40
Bisphosphonate therapy for severe osteogenesis imperfecta. (11086652)
2000
41
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
42
A single amino acid deletion in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III. (8444468)
1993
43
A novel glycine to glutamic acid substitution at position 343 in the alpha 2 chain of type I collagen in an individual with lethal osteogenesis imperfecta. (7906591)
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
Substitutions for glycine alpha 1-637 and glycine alpha 2-694 of type I procollagen in lethal osteogenesis imperfecta. The conformational strain on the triple helix introduced by a glycine substitution can be transmitted along the helix. (1874719)
1991
47
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
48
Hydrocephalus of intrauterine onset in perinatally lethal osteogenesis imperfecta: clinical, sonographic, and pathologic correlations. (3062601)
1988
49
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
50
Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation. (6092353)
1984

Variations for Osteogenesis Imperfecta

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Clinvar genetic disease variations for Osteogenesis Imperfecta:

5 (show all 118)
id Gene Variation Type Significance SNP ID Assembly Location
1COL1A2NM_000089.3(COL1A2): c.3034G> C (p.Gly1012Arg)single nucleotide variantPathogenicrs72659319GRCh37Chr 7, 94055771: 94055771
2COL1A2NM_000089.3(COL1A2): c.4001_4004delATAA (p.Asn1334Serfs)deletionPathogenicrs72659345GRCh37Chr 7, 94059605: 94059608
3COL1A2NC_000007.14: g.94418886_94423301del4416deletionPathogenicrs74315138GRCh37Chr 7, 94048198: 94052613
4COL1A2NM_000089.3(COL1A2): c.2720G> A (p.Gly907Asp)single nucleotide variantPathogenicrs121912900GRCh37Chr 7, 94054475: 94054475
5COL1A2COL1A2, EX33DELdeletionPathogenic
6COL1A2NM_000089.3(COL1A2): c.1640G> A (p.Gly547Asp)single nucleotide variantPathogenicrs121912901GRCh37Chr 7, 94043234: 94043234
7COL1A2NM_000089.3(COL1A2): c.2593G> A (p.Gly865Ser)single nucleotide variantPathogenicrs121912902GRCh37Chr 7, 94053675: 94053675
8COL1A2NM_000089.3(COL1A2): c.1936G> T (p.Gly646Cys)single nucleotide variantPathogenicrs121912903GRCh37Chr 7, 94047108: 94047108
9COL1A2COL1A2, EX26DELdeletionPathogenic
10COL1A2COL1A2, GLY976ASPundetermined variantPathogenic
11COL1A2NM_000089.3(COL1A2): c.2414G> A (p.Gly805Asp)single nucleotide variantPathogenicrs121912904GRCh37Chr 7, 94052279: 94052279
12COL1A2NM_000089.3(COL1A2): c.775G> T (p.Gly259Cys)single nucleotide variantPathogenicrs121912905GRCh37Chr 7, 94038118: 94038118
13COL1A2COL1A2, EX28DELdeletionPathogenic
14COL1A2NM_000089.3(COL1A2): c.1414G> T (p.Gly472Cys)single nucleotide variantPathogenicrs121912906GRCh37Chr 7, 94041905: 94041905
15COL1A2COL1A2, IVS33DS, G-A, +5single nucleotide variantPathogenic
16COL1A2NM_000089.3(COL1A2): c.1757G> T (p.Gly586Val)single nucleotide variantPathogenicrs121912907GRCh37Chr 7, 94044575: 94044575
17COL1A2NM_000089.3(COL1A2): c.2080G> C (p.Gly694Arg)single nucleotide variantPathogenicrs121912908GRCh37Chr 7, 94049545: 94049545
18COL1A2NM_000089.3(COL1A2): c.1739G> A (p.Gly580Asp)single nucleotide variantPathogenicrs121912909GRCh37Chr 7, 94044557: 94044557
19COL1A2COL1A2, VAL255DELdeletionPathogenic
20COL1A2NM_000089.3(COL1A2): c.2575G> A (p.Gly859Ser)single nucleotide variantPathogenicrs72658200GRCh37Chr 7, 94053657: 94053657
21COL1A2NM_000089.3(COL1A2): c.1504G> A (p.Gly502Ser)single nucleotide variantPathogenicrs121912910GRCh37Chr 7, 94042395: 94042395
22COL1A2NM_000089.3(COL1A2): c.3279_3287delTCCCCCTGG (p.Pro1100_Gly1102del)deletionPathogenicrs74315103GRCh37Chr 7, 94056950: 94056958
23COL1A2COL1A2, IVS21DS, G-A, +5deletionPathogenic
24COL1A2NM_000089.3(COL1A2): c.3017G> C (p.Gly1006Ala)single nucleotide variantPathogenicrs121912911GRCh37Chr 7, 94055754: 94055754
25COL1A2NM_000089.3(COL1A2): c.2251G> A (p.Gly751Ser)single nucleotide variantPathogenicrs72658176GRCh37Chr 7, 94049916: 94049916
26COL1A2COL1A2, IVS26DS, A-G, +3single nucleotide variantPathogenic
27COL1A2NM_000089.3(COL1A2): c.1099G> T (p.Gly367Trp)single nucleotide variantPathogenicrs72656402GRCh37Chr 7, 94039741: 94039741
28COL1A2NM_000089.3(COL1A2): c.1136G> C (p.Gly379Ala)single nucleotide variantPathogenicrs121912912GRCh37Chr 7, 94039778: 94039778
29COL1A2NM_000089.3(COL1A2): c.1262G> A (p.Gly421Asp)single nucleotide variantPathogenicrs267606741GRCh37Chr 7, 94040378: 94040378
30COL1A2NM_000089.3(COL1A2): c.3269G> A (p.Gly1090Asp)single nucleotide variantPathogenicrs267606742GRCh37Chr 7, 94056940: 94056940
31COL1A2NM_000089.3(COL1A2): c.3295G> A (p.Gly1099Arg)single nucleotide variantPathogenicrs72659338GRCh37Chr 7, 94056966: 94056966
32COL1A1NM_000088.3(COL1A1): c.824G> A (p.Gly275Asp)single nucleotide variantPathogenicrs72645333GRCh37Chr 17, 48274012: 48274012
33COL1A1NM_000088.3(COL1A1): c.814G> T (p.Gly272Cys)single nucleotide variantPathogenicrs72645331GRCh37Chr 17, 48274022: 48274022
34COL1A1NM_000088.3(COL1A1): c.1057G> T (p.Gly353Cys)single nucleotide variantPathogenicrs66721653GRCh37Chr 17, 48273026: 48273026
35COL1A1NM_000088.3(COL1A1): c.1705G> C (p.Gly569Arg)single nucleotide variantPathogenicrs72648363GRCh37Chr 17, 48271366: 48271366
36COL1A1NM_000088.3(COL1A1): c.2110G> T (p.Gly704Cys)single nucleotide variantPathogenicrs67368147GRCh37Chr 17, 48269166: 48269166
37COL1A1NM_000088.3(COL1A1): c.2210G> A (p.Gly737Asp)single nucleotide variantPathogenicrs72651651GRCh37Chr 17, 48268769: 48268769
38COL1A1NM_000088.3(COL1A1): c.2552G> A (p.Gly851Asp)single nucleotide variantPathogenicrs72653137GRCh37Chr 17, 48267369: 48267369
39COL1A1NM_000088.3(COL1A1): c.2533G> A (p.Gly845Arg)single nucleotide variantPathogenicrs72653136GRCh37Chr 17, 48267388: 48267388
40COL1A1NM_000088.3(COL1A1): c.2605G> T (p.Gly869Cys)single nucleotide variantPathogenicrs72653143GRCh37Chr 17, 48267228: 48267228
41COL1A1NM_000088.3(COL1A1): c.2686G> T (p.Gly896Cys)single nucleotide variantPathogenicrs72653152GRCh37Chr 17, 48266881: 48266881
42COL1A1NM_000088.3(COL1A1): c.2776G> T (p.Gly926Cys)single nucleotide variantPathogenicrs72653154GRCh37Chr 17, 48266791: 48266791
43COL1A1NM_000088.3(COL1A1): c.3028G> A (p.Gly1010Ser)single nucleotide variantPathogenicrs72653169GRCh37Chr 17, 48266281: 48266281
44COL1A1NM_000088.3(COL1A1): c.3064G> A (p.Gly1022Ser)single nucleotide variantPathogenicrs66523073GRCh37Chr 17, 48266138: 48266138
45COL1A1NM_000088.3(COL1A1): c.3073G> A (p.Gly1025Arg)single nucleotide variantPathogenicrs72653172GRCh37Chr 17, 48266129: 48266129
46COL1A1NM_000088.3(COL1A1): c.3182G> A (p.Gly1061Asp)single nucleotide variantPathogenicrs72654797GRCh37Chr 17, 48265916: 48265916
47COL1A1NM_000088.3(COL1A1): c.3244G> T (p.Gly1082Cys)single nucleotide variantPathogenicrs72656303GRCh37Chr 17, 48265474: 48265474
48COL1A1NM_000088.3(COL1A1): c.3271G> A (p.Gly1091Ser)single nucleotide variantPathogenicrs72656306GRCh37Chr 17, 48265335: 48265335
49COL1A1NM_000088.3(COL1A1): c.3496G> T (p.Gly1166Cys)single nucleotide variantPathogenicrs72656324GRCh37Chr 17, 48264411: 48264411
50COL1A1NM_000088.3(COL1A1): c.3559G> A (p.Gly1187Ser)single nucleotide variantPathogenicrs72656332GRCh37Chr 17, 48264256: 48264256
51COL1A1COL1A1, EX22DELdeletionPathogenic
52COL1A1COL1A1, 9-BP DELdeletionPathogenic
53COL1A1NM_000088.3(COL1A1): c.4358_4362delAATTC (p.Glu1453Glyfs)deletionPathogenicrs72656352GRCh37Chr 17, 48262896: 48262900
54COL1A1COL1A1, 1-BP INS, 4088TinsertionPathogenic
55COL1A1NM_000088.3(COL1A1): c.1066G> T (p.Gly356Cys)single nucleotide variantPathogenicrs72645365GRCh37Chr 17, 48273017: 48273017
56COL1A1NM_000088.3(COL1A1): c.2156G> A (p.Gly719Asp)single nucleotide variantPathogenicrs72651646GRCh37Chr 17, 48268823: 48268823
57COL1A1NM_000088.3(COL1A1): c.994G> A (p.Gly332Arg)single nucleotide variantPathogenicrs72645357GRCh37Chr 17, 48273524: 48273524
58COL1A1NM_000088.3(COL1A1): c.3541G> A (p.Gly1181Ser)single nucleotide variantPathogenicrs72656330GRCh37Chr 17, 48264274: 48264274
59COL1A1NM_000088.3(COL1A1): c.2444G> T (p.Gly815Val)single nucleotide variantPathogenicrs66929517GRCh37Chr 17, 48267695: 48267695
60COL1A1NM_000088.3(COL1A1): c.787G> A (p.Gly263Arg)single nucleotide variantPathogenicrs72645323GRCh37Chr 17, 48274388: 48274388
61COL1A1NM_000088.3(COL1A1): c.3452G> T (p.Gly1151Val)single nucleotide variantPathogenicrs72656321GRCh37Chr 17, 48264455: 48264455
62COL1A1NM_000088.3(COL1A1): c.1301G> T (p.Gly434Val)single nucleotide variantPathogenicrs72648333GRCh37Chr 17, 48272460: 48272460
63COL1A1COL1A1, IVS14DS, G-A, +5single nucleotide variantPathogenic
64COL1A1NM_000088.3(COL1A1): c.3235G> A (p.Gly1079Ser)single nucleotide variantPathogenicrs72654802GRCh37Chr 17, 48265483: 48265483
65COL1A1NM_000088.3(COL1A1): c.2939G> T (p.Gly980Val)single nucleotide variantPathogenicrs72653166GRCh37Chr 17, 48266370: 48266370
66COL1A1NM_000088.3(COL1A1): c.1588G> A (p.Gly530Ser)single nucleotide variantPathogenicrs67682641GRCh37Chr 17, 48271736: 48271736
67COL1A1COL1A1, EX15-16DUPduplicationPathogenic
68COL1A1NM_000088.3(COL1A1): c.1777G> A (p.Gly593Ser)single nucleotide variantPathogenicrs66527965GRCh37Chr 17, 48270399: 48270399
69COL1A1NM_000088.3(COL1A1): c.2228G> T (p.Gly743Val)single nucleotide variantPathogenicrs72651653GRCh37Chr 17, 48268751: 48268751
70COL1A1COL1A1, IVS26DS, G-A, +1single nucleotide variantPathogenic
71COL1A1NM_000088.3(COL1A1): c.1598G> A (p.Gly533Asp)single nucleotide variantPathogenicrs72648356GRCh37Chr 17, 48271726: 48271726
72COL1A1NM_000088.3(COL1A1): c.3118G> A (p.Gly1040Ser)single nucleotide variantPathogenicrs72653178GRCh37Chr 17, 48265980: 48265980
73COL1A1NM_000088.3(COL1A1): c.2515G> A (p.Gly839Ser)single nucleotide variantPathogenicrs72653131GRCh37Chr 17, 48267406: 48267406
74COL1A1NM_000088.3(COL1A1): c.4391T> C (p.Leu1464Pro)single nucleotide variantPathogenicrs72656353GRCh37Chr 17, 48262867: 48262867
75COL1A1COL1A1, 562-BP DELdeletionPathogenic
76COL1A1NM_000088.3(COL1A1): c.3421C> T (p.Arg1141Ter)single nucleotide variantPathogenicrs72656314GRCh37Chr 17, 48264847: 48264847
77COL1A1NM_000088.3(COL1A1): c.2291G> T (p.Gly764Val)single nucleotide variantPathogenicrs72651657GRCh37Chr 17, 48268230: 48268230
78COL1A1COL1A1, IVS8DS, G-A, +1single nucleotide variantPathogenic
79COL1A1COL1A1, 9-BP DUPduplicationPathogenic
80COL1A1COL1A1, 3-BP DEL, 1964GGCdeletionPathogenic
81COL1A1COL1A1, IVS19DS, G-C, +1single nucleotide variantPathogenic
82COL1A1NM_000088.3(COL1A1): c.761G> A (p.Gly254Glu)single nucleotide variantPathogenicrs72645320GRCh37Chr 17, 48274414: 48274414
83WNT1NM_005430.3(WNT1): c.1025delC (p.Glu343Serfs)deletionPathogenicrs727505392GRCh37Chr 12, 49375335: 49375335
84BMP1NM_001199.3(BMP1): c.*241T> Csingle nucleotide variantPathogenicrs786205217GRCh37Chr 8, 22058957: 22058957
85BMP1NM_001199.3(BMP1): c.2107G> C (p.Glu703Gln)single nucleotide variantPathogenicrs786205218GRCh38Chr 8, 22197420: 22197420
86BMP1NM_006129.4(BMP1): c.808A> G (p.Met270Val)single nucleotide variantPathogenicrs786205219GRCh37Chr 8, 22035442: 22035442
87BMP1NM_006129.4(BMP1): c.1297G> T (p.Ala433Ser)single nucleotide variantPathogenicrs786205220GRCh37Chr 8, 22051687: 22051687
88COL1A1NM_000088.3(COL1A1): c.91C> T (p.Gln31Ter)single nucleotide variantPathogenicrs794726873GRCh37Chr 17, 48278784: 48278784
89COL1A1NM_000088.3(COL1A1): c.959G> A (p.Gly320Asp)single nucleotide variantLikely pathogenicrs72645353GRCh37Chr 17, 48273559: 48273559
90COL1A2NM_000089.3(COL1A2): c.1971+1G> Asingle nucleotide variantPathogenicrs72658151GRCh37Chr 7, 94047144: 94047144
91COL1A2NM_000089.3(COL1A2): c.2099G> A (p.Gly700Asp)single nucleotide variantPathogenicrs72658161GRCh37Chr 7, 94049564: 94049564
92COL1A1NM_000088.3(COL1A1): c.2866G> A (p.Gly956Arg)single nucleotide variantLikely pathogenicrs797045033GRCh38Chr 17, 50189239: 50189239
93COL1A2NM_000089.3(COL1A2): c.3034G> A (p.Gly1012Ser)single nucleotide variantLikely pathogenicrs72659319GRCh37Chr 7, 94055771: 94055771
94COL1A2NM_000089.3(COL1A2): c.2957C> T (p.Pro986Leu)single nucleotide variantLikely pathogenicrs768171831GRCh37Chr 7, 94055323: 94055323
95SERPINF1SERPINF1, 2-BP DUP, 324CTduplicationPathogenic
96SERPINH1NM_001235.3(SERPINH1): c.233T> C (p.Leu78Pro)single nucleotide variantPathogenicrs137853892GRCh37Chr 11, 75277627: 75277627
97SP7SP7, 1-BP DEL, 1052AdeletionPathogenic
98FKBP10FKBP10, 35-BP DEL, NT122deletionPathogenic
99FKBP10FKBP10, 33-BP DEL, NT321deletionPathogenic
100FKBP10FKBP10, 1-BP DUP, 831CduplicationPathogenic
101COL1A1NM_000088.3(COL1A1): c.1200+1G> Asingle nucleotide variantPathogenicrs72648320GRCh37Chr 17, 48272794: 48272794
102COL1A1NM_000088.3(COL1A1): c.3076C> T (p.Arg1026Ter)single nucleotide variantPathogenicrs72653173GRCh37Chr 17, 48266126: 48266126
103COL1A2NM_000089.3(COL1A2): c.838G> A (p.Gly280Ser)single nucleotide variantPathogenicrs72656387GRCh37Chr 7, 94038679: 94038679
104BMP1NM_006129.4(BMP1): c.747C> G (p.Phe249Leu)single nucleotide variantPathogenicrs398122891GRCh37Chr 8, 22035381: 22035381
105TMEM38BNG_032971.1: g.32476_53457del20982insAATTAAGGTATAindelPathogenicGRCh37Chr 9, 108484281: 108505262
106FKBP10NM_021939.3(FKBP10): c.1207C> T (p.Arg403Ter)single nucleotide variantPathogenicrs372896892GRCh37Chr 17, 39976664: 39976664
107FKBP10NM_021939.3(FKBP10): c.1271_1272delCCinsA (p.Ala424Aspfs)indelPathogenicrs397509383GRCh37Chr 17, 39977213: 39977214
108COL1A1NM_000088.3(COL1A1): c.4247delC (p.Thr1416Argfs)deletionPathogenicrs398122835GRCh37Chr 17, 48263140: 48263140
109COL1A1NM_000088.3(COL1A1): c.4160C> T (p.Ala1387Val)single nucleotide variantPathogenicrs397514672GRCh37Chr 17, 48263227: 48263227
110SERPINF1NM_002615.5(SERPINF1): c.118_119delGT (p.Val40Glyfs)deletionPathogenicrs398122518GRCh37Chr 17, 1673179: 1673180
111SERPINF1NM_002615.5(SERPINF1): c.-9+2dupTduplicationPathogenicrs398122519GRCh37Chr 17, 1665409: 1665409
112SERPINF1NM_002615.5(SERPINF1): c.653delT (p.Val218Glufs)deletionPathogenicrs398122520GRCh37Chr 17, 1678361: 1678361
113FKBP10NM_021939.3(FKBP10): c.948dupT (p.Ile317Tyrfs)duplicationPathogenicrs387907325GRCh37Chr 17, 39975812: 39975812
114WNT1NM_005430.3(WNT1): c.624+4A> Gsingle nucleotide variantPathogenicrs387907354GRCh37Chr 12, 49374476: 49374476
115WNT1NM_005430.3(WNT1): c.565G> T (p.Glu189Ter)single nucleotide variantPathogenicrs387907355GRCh37Chr 12, 49374413: 49374413
116WNT1NM_005430.3(WNT1): c.884C> A (p.Ser295Ter)single nucleotide variantPathogenicrs387907356GRCh37Chr 12, 49375194: 49375194
117WNT1NM_005430.3(WNT1): c.946_949dupAACA (p.Ser317Lysfs)duplicationPathogenicrs387907357GRCh37Chr 12, 49375256: 49375259
118WNT1NM_005430.3(WNT1): c.1063G> T (p.Val355Phe)single nucleotide variantPathogenicrs387907358GRCh37Chr 12, 49375373: 49375373

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:000558411.0COL1A1, COL1A2
2membrane-bounded vesicleGO:003198810.7BGLAP, BMP1
3macromolecular complexGO:003299110.6CRTAP, P3H1, PPIB
4proteinaceous extracellular matrixGO:00055789.8BMP1, COL1A1, CRTAP, DSPP, P3H1, WNT1
5endoplasmic reticulumGO:00057839.8COL1A1, CREB3L1, CRTAP, P3H1, PLOD2, PPIB
6extracellular spaceGO:00056159.3BGLAP, BMP1, CD36, COL1A1, COL1A2, CRTAP
7endoplasmic reticulum lumenGO:00057889.2COL1A1, COL1A2, CRTAP, FKBP10, P3H1, PPIB

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:004358910.9COL1A1, COL1A2
2negative regulation of cell-substrate adhesionGO:001081210.9COL1A1, WNT1
3collagen biosynthetic processGO:003296410.8COL1A1, SERPINH1
4protein heterotrimerizationGO:007020810.7COL1A1, COL1A2
5negative regulation of post-translational protein modificationGO:190187410.7CRTAP, P3H1
6regulation of bone mineralizationGO:003050010.6BGLAP, IFITM5
7chaperone-mediated protein foldingGO:006107710.4CRTAP, FKBP10, P3H1, PPIB
8protein stabilizationGO:005082110.4CRTAP, P3H1, PPIB
9osteoblast differentiationGO:000164910.3BGLAP, COL1A1, CREB3L1, SP7
10ossificationGO:000150310.2BGLAP, BMP1, COL1A1, DSPP
11extracellular matrix disassemblyGO:002261710.2BMP1, COL1A1, COL1A2
12bone developmentGO:006034810.1BGLAP, P3H1, PPIB, WNT1
13collagen fibril organizationGO:003019910.1COL1A1, COL1A2, P3H1, SERPINH1
14skeletal system developmentGO:000150110.0BGLAP, BMP1, COL1A1, COL1A2, DSPP
15multicellular organismal developmentGO:00072759.5BMP1, CREB3L1, DSPP, SERPINF1, WNT1
16extracellular matrix organizationGO:00301989.3BMP1, COL1A1, COL1A2, CRTAP, DSPP, P3H1

Molecular functions related to Osteogenesis Imperfecta according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1L-ascorbic acid bindingGO:003141810.4P3H1, PLOD2
2platelet-derived growth factor bindingGO:004840710.3COL1A1, COL1A2
3unfolded protein bindingGO:005108210.2PPIB, SERPINH1, SPG7
4collagen bindingGO:000551810.1DSPP, P3H1, PPIB, SERPINH1
5extracellular matrix structural constituentGO:00052019.8COL1A1, COL1A2, DSPP

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