OI1
MCID: OST135
MIFTS: 46

Osteogenesis Imperfecta, Type I (OI1) malady

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

Aliases & Classifications for Osteogenesis Imperfecta, Type I

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Aliases & Descriptions for Osteogenesis Imperfecta, Type I:

Name: Osteogenesis Imperfecta, Type I 52 12
Osteogenesis Imperfecta Type 1 11 54 13
Osteogenesis Imperfecta Type I 11 48 70
Osteogenesis Imperfecta with Blue Sclerae 48 70
Non-Deforming Osteogenesis Imperfecta 48 54
Osteogenesis Imperfecta Tarda 48 70
Mild Osteogenesis Imperfecta 48 54
Osteogenesis Imperfecta 1 70 27
Van Der Hoeve Syndrome 48 54
 
Adair-Dighton Syndrome 48 54
Oi, Type I 70 50
Oi Type 1 48 54
Oi1 11 70
Classic Non-Deforming Oi with Blue Sclerae 48
Osteopenic Non-Fracture Syndrome 70
Lobstein's Disease 68
Oi-I 70

Characteristics:

Orphanet epidemiological data:

54
osteogenesis imperfecta type 1:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Sweden); Age of onset: Childhood

HPO:

64
osteogenesis imperfecta, type i:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 166200
Disease Ontology11 DOID:0110334
ICD1030 Q78.0
Orphanet54 ORPHA216796
ICD10 via Orphanet31 Q78.0
MeSH39 D010013

Summaries for Osteogenesis Imperfecta, Type I

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NIH Rare Diseases:48 Osteogenesis imperfecta (oi) is a group of genetic disorders that mainly affect the bones. osteogenesis imperfecta type 1 is the mildest form of oi and is characterized by bone fractures during childhood and adolescence that often result from minor trauma. fractures occur less frequently in adulthood. people with mild forms of the condition typically have a blue or grey tint to the part of the eye that is usually white (the sclera), and may develop hearing loss in adulthood. affected individuals are usually of normal or near normal height. most of the mutations that cause osteogenesis imperfecta type 1 occur in the col1a1 gene. these genetic changes reduce the amount of type i collagen produced in the body, which causes bones to be brittle and to fracture easily. oi type 1 exhibits an autosomal dominant pattern of inheritance. last updated: 12/2/2015

MalaCards based summary: Osteogenesis Imperfecta, Type I, also known as osteogenesis imperfecta type 1, is related to classic non-deforming osteogenesis imperfecta with blue sclerae and osteogenesis imperfecta, type viii, and has symptoms including otosclerosis, hearing impairment and blue sclerae. An important gene associated with Osteogenesis Imperfecta, Type I is COL1A1 (Collagen Type I Alpha 1 Chain). Affiliated tissues include bone, eye and skin.

UniProtKB/Swiss-Prot:70 Osteogenesis imperfecta 1: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI1 is a non-deforming form with normal height or mild short stature, and no dentinogenesis imperfecta.

OMIM:52 Osteogenesis imperfecta type I is a dominantly inherited, generalized connective tissue disorder characterized mainly... (166200) more...

Disease Ontology:11 An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has material basis in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.

Related Diseases for Osteogenesis Imperfecta, Type I

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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 Bmp1-Related Osteogenesis Imperfecta
Crtap-Related Osteogenesis Imperfecta Fkbp10-Related Osteogenesis Imperfecta
Ifitm5-Related Osteogenesis Imperfecta P3h1-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, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1classic non-deforming osteogenesis imperfecta with blue sclerae11.0
2osteogenesis imperfecta, type viii10.9
3osteogenesis imperfecta, type iv10.9
4osteogenesis imperfecta, type xiii10.9
5osteogenesis imperfecta, type xiv10.9
6osteogenesis imperfecta, type v10.9
7osteogenesis imperfecta, type xv10.9
8osteogenesis imperfecta10.7
9otosclerosis10.1
10thrombosis9.8
11vaginitis9.8
12kidney disease9.8
13autosomal dominant polycystic kidney disease9.8
14polycystic kidney disease9.8

Graphical network of diseases related to Osteogenesis Imperfecta, Type I:



Diseases related to osteogenesis imperfecta, type i

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type I

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Symptoms by clinical synopsis from OMIM:

166200

Clinical features from OMIM:

166200

Human phenotypes related to Osteogenesis Imperfecta, Type I:

 64 (show all 16)
id Description HPO Frequency HPO Source Accession
1 otosclerosis64 HP:0000362
2 hearing impairment64 HP:0000365
3 blue sclerae64 HP:0000592
4 dentinogenesis imperfecta64 HP:0000703
5 osteopenia64 HP:0000938
6 thin skin64 HP:0000963
7 bruising susceptibility64 HP:0000978
8 joint hypermobility64 HP:0001382
9 growth abnormality64 HP:0001507
10 mitral valve prolapse64 HP:0001634
11 aortic dilatation64 HP:0001724
12 wormian bones64 HP:0002645
13 increased susceptibility to fractures64 HP:0002659
14 recurrent fractures64 HP:0002757
15 femoral bowing64 HP:0002980
16 biconcave flattened vertebrae64 HP:0003321

Drugs & Therapeutics for Osteogenesis Imperfecta, Type I

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

(show all 19)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Hormone AntagonistsPhase 313180
2Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 313168
3HormonesPhase 314415
4
Cyclosporineapproved, investigational, vet_approvedPhase 192279217-60-0, 59865-13-35284373, 6435893
Synonyms:
1c5f
1cyn
30024_FLUKA
30024_SIGMA
59865-13-3
79217-60-0
AC1L1EQW
AC1NQXJE
AC1NR4C4
AC1NUQK3
AC1NUZNC
AC1O5KOG
AC1Q2UDG
Ambap59865-13-3
Ambotz59865-13-3
Antibiotic S 7481F1
BMT-ABA-SAR-MLE-VAL-MLE-ALA-ALA-MLE-MLE-MVA
BMT-ABA-SAR-MLE-VAL-MLE-ALA-DAL-MLE-MLE-MVA
BPBio1_000496
BRD-A64290322-001-01-6
BRD-A69815203-001-04-3
BRD-K13533483-001-03-0
BSPBio_000450
BSPBio_001596
BSPBio_003186
C 3662
C05086
C1832_SIGMA
C3662_SIGMA
C62H111N11O12
CB-01-09 MMX
CHEBI:106343
CHEBI:328305
CHEBI:4031
CHEMBL160
CHEMBL386389
CHEMBL532318
CID2909
CID5280754
CID5284373
CID5458585
CID5497195
CID6435893
CSA
CYCLOSPORIN A (SEE ALSO TRANSGENIC MODEL EVALUATION (CYCLOSPORIN A))
CYCLOSPORIN A, USP
Ciclosporin
Ciclosporin (JP15)
Ciclosporina
Ciclosporine
Ciclosporinum
Cipol N
Cipol-N
Consupren
Consupren S
CsA
CsA & IFN.alpha.
CyA
Cyclokat
Cyclosporin
Cyclosporin A
Cyclosporin A & IFN.alpha.
Cyclosporin A Implant
Cyclosporin A, Tolypocladium inflatum
Cyclosporine (USP)
Cyclosporine A
Cyclosporine [USAN]
D00184
DE-076
DivK1c_000871
EU-0100242
Equoral
GNF-Pf-2808
Gengraf
Gengraf (TN)
HMS1569G12
HMS1791P18
HMS1921L20
HMS1989P18
HMS2089A09
HMS2092F06
HMS502L13
Helv Chim Acta 60: 1568 (1977)
 
I06-0379
I06-0966
IDI1_000871
KBio1_000871
KBio2_000780
KBio2_003348
KBio2_005916
KBio3_002686
KBioGR_001898
KBioSS_000780
LMPK14000003
LS-257
LS-58836
Lopac0_000242
MLS000028376
MLS001333756
MLS002153454
MLS002207033
Mitogard
Modusik-A
MolPort-000-760-988
MolPort-005-934-008
MolPort-006-705-994
NCGC00093704-01
NCGC00093704-02
NCGC00093704-03
NCGC00093704-04
NCGC00093704-05
NCGC00093704-06
NCGC00093704-07
NCGC00093704-08
NCGC00164258-01
NCGC00164258-02
NINDS_000871
NSC290193
Neoplanta
Neoral
Neoral (TN)
NeuroSTAT
Nova-22007
OL 27-400
OL-27400
OLO-400
Papilock
Prestwick2_000435
Prestwick3_000435
Prestwick_731
Pulminiq
Ramihyphin A
Restasis
Restasis (TN)
S-Neoral
S1514_Selleck
SDZ-OXL 400
SMR000058578
SPBio_001467
SPECTRUM1502202
ST-603
Sandimmun
Sandimmun Neoral
Sandimmune
Sandimmune (TN)
Sandimmune, Gengraf, Restasis, Atopica, Sangcya, Cyclosporine
Sang-2000
Sang-35
SangCyA
Sangcya
Sigmasporin
Sigmasporin Microoral
Spectrum2_001484
Spectrum3_001593
Spectrum4_001279
Spectrum5_001628
Spectrum_000300
TRANSGENIC MODEL EVALUATION (CYCLOSPORIN A)
Vekacia
Zyclorin
cyclophorine
cyclosporin A
cyclosporine
from Tolypocladium inflatum (Trichoderma polysporin)
nchembio.184-comp6
nchembio.301-comp5
nchembio.342-comp1
5
Busulfanapproved, investigationalPhase 154555-98-12478
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)
6
Miconazoleapproved, investigational, vet_approvedPhase 1370622916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Micantin (nitrate)
Miconasil Nitrate
 
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
7
Cyclophosphamideapproved, investigationalPhase 1293550-18-0, 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
Anhydrous cyclophosphamide
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
8Immunosuppressive AgentsPhase 113086
9Dermatologic AgentsPhase 15806
10Calcineurin InhibitorsPhase 11622
11Antirheumatic AgentsPhase 110956
12Antifungal AgentsPhase 13696
13Alkylating AgentsPhase 14827
14Anti-Infective AgentsPhase 122062
15Antineoplastic Agents, AlkylatingPhase 14603
16ImmunoglobulinsPhase 16394
17AntibodiesPhase 16394
18Antibodies, MonoclonalPhase 14039
19
Mentholapproved26062216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol

Interventional clinical trials:

idNameStatusNCT IDPhase
1Growth Hormone Therapy in Osteogenesis ImperfectaCompletedNCT00001305Phase 3
2A Study in Adult Patients With Type I, III or IV Osteogenesis Imperfecta Treated With BPS804RecruitingNCT03118570Phase 2
3Treatment of Severe Osteogenesis Imperfecta by Allogeneic Bone Marrow TransplantationCompletedNCT00705120Phase 1
4Safety of Fresolimumab in the Treatment of Osteogenesis ImperfectaNot yet recruitingNCT03064074Phase 1
5Whole Body Vibration Training in Children With Osteogenesis Imperfecta and Limited MobilityCompletedNCT03029312
6BBD Longitudinal Study of Osteogenesis ImperfectaRecruitingNCT02432625
7Urinary Biomarkers of OI PathobiologyRecruitingNCT02531087

Search NIH Clinical Center for Osteogenesis Imperfecta, Type I

Genetic Tests for Osteogenesis Imperfecta, Type I

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Genetic tests related to Osteogenesis Imperfecta, Type I:

id Genetic test Affiliating Genes
1 Osteogenesis Imperfecta Type I27

Anatomical Context for Osteogenesis Imperfecta, Type I

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MalaCards organs/tissues related to Osteogenesis Imperfecta, Type I:

36
Bone, Eye, Skin, Testes, Kidney

Publications for Osteogenesis Imperfecta, Type I

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Articles related to Osteogenesis Imperfecta, Type I:

(show top 50)    (show all 58)
idTitleAuthorsYear
1
Developmental charts for children with osteogenesis imperfecta, type I (body height, body weight and BMI). (28058531)
2017
2
Isolated olecranon fractures in children affected by osteogenesis imperfecta type I treated with single screw or tension band wiring system: Outcomes and pitfalls in relation to bone mineral density. (28514292)
2017
3
Static postural control in youth with osteogenesis imperfecta type I. (28433416)
2017
4
Rare co-occurrence of osteogenesis imperfecta type I and autosomal dominant polycystic kidney disease. (27059743)
2016
5
Ultrasonographic early diagnosis of osteogenesis imperfecta type I: implications for pre and post-natal therapy. (27052443)
2016
6
Decreased fracture rate, pharmacogenetics and BMD response in 79 Swedish children with osteogenesis imperfecta types I, III and IV treated with Pamidronate. (26957348)
2016
7
Ultrasound findings of a fetus with osteogenesis imperfecta type I. (27040421)
2016
8
Osteogenesis Imperfecta Type I Caused by COL1A1 Deletions. (26478226)
2015
9
Osteogenesis imperfecta Type I caused by a novel mutation in the start codon of the COL1A1 gene in a Korean family. (25696019)
2015
10
Validity of an accelerometer as a vertical ground reaction force measuring device in healthy children and adolescents and in children and adolescents with osteogenesis imperfecta type I. (24879019)
2014
11
Osteogenesis imperfecta type I: A case report. (24926339)
2014
12
A novel mild variant of osteogenesis imperfecta type I caused by a Gly1088Glu mutation in COL1A1. (24682174)
2014
13
Muscle Anatomy and Dynamic Muscle Function in Osteogenesis Imperfecta Type I. (24248189)
2013
14
Eleven years of experience with bisphosphonate plus alfacalcidol treatment in a man with osteogenesis imperfecta type I. (23293527)
2013
15
Teriparatide treatment in adult patients with osteogenesis imperfecta type I. (23907723)
2013
16
Mineral particle size in children with osteogenesis imperfecta type I is not increased independently of specific collagen mutations. (24296239)
2013
17
Risedronate in adults with osteogenesis imperfecta type I: increased bone mineral density and decreased bone turnover, but high fracture rate persists. (21739105)
2012
18
Osteogenesis imperfecta type I: second-trimester diagnosis and incidental identification of a dominant COL1A1 deletion mutation in the paucisymptomatic father. (22795108)
2012
19
Uncomplicated vaginal delivery in two consecutive pregnancies carried to term in a woman with osteogenesis imperfecta type I and bisphosphonate treatment before conception. (22795118)
2012
20
Bone geometry, density, and microarchitecture in the distal radius and tibia in adults with osteogenesis imperfecta type I assessed by high-resolution pQCT. (22407910)
2012
21
Ebstein's anomaly in a child with osteogenesis imperfecta type I. (22461818)
2011
22
An unusual presentation of osteogenesis imperfecta type I. (23754901)
2011
23
Molecular diagnosis of a Chinese pedigree with osteogenesis imperfecta type I]. (19199251)
2009
24
25-gauge sutureless vitrectomy in osteogenesis imperfecta type I. (25389586)
2009
25
Femoral artery thrombosis after internal fixation of a transverse acetabular fracture in a patient with osteogenesis imperfecta type I. (18271949)
2008
26
Molecular diagnosis of osteogenesis imperfecta type I]. (19145934)
2008
27
A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family. (18755172)
2008
28
Stimulation of collagen biosynthesis by flavonoid glycosides in skin fibroblasts of osteogenesis imperfecta type I and the potential mechanism of their action. (17982699)
2007
29
Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. (16786509)
2006
30
Single-dose pharmacokinetics and tolerability of alendronate 35- and 70-milligram tablets in children and adolescents with osteogenesis imperfecta type I. (15827104)
2005
31
Effect of treatment with alendronate in osteogenesis imperfecta type I: a case report. (15647630)
2004
32
Cardiopulmonary fitness and muscle strength in patients with osteogenesis imperfecta type I. (15580207)
2004
33
Gene symbol: COL1A1. Disease: Osteogenesis imperfecta type I. (15046069)
2004
34
Hypercalciuria in osteogenesis imperfecta type I. (14520592)
2003
35
Effects of treatment with etidronate and alfacalcidol for osteogenesis imperfecta type I: a case report. (12665966)
2003
36
Increased bone resorption with decreased activity and increased recruitment of osteoblasts in osteogenesis imperfecta type I. (11984701)
2002
37
Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV. (11317364)
2001
38
MRI-visible pericochlear lesions in osteogenesis imperfecta type I. (11044947)
2000
39
Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy. (11113887)
2000
40
Two pregnancies after preimplantation genetic diagnosis for osteogenesis imperfecta type I and type IV. (10942108)
2000
41
Nonsense mutations in the COL1A1 gene preferentially reduce nuclear levels of mRNA but not hnRNA in osteogenesis imperfecta type I cell strains. (10686420)
2000
42
Prenatal diagnosis of osteogenesis imperfecta type I by COL1A1 null-allele testing. (10521849)
1999
43
Bone density measurements by computed tomography in osteogenesis imperfecta type I. (10550462)
1999
44
Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations. (9443882)
1998
45
A four base pair insertion polymorphism in the 3' untranslated region of the COL1A1 gene is highly informative for null-allele testing in patients with osteogenesis imperfecta type I. (9503369)
1998
46
Hearing loss (in nonoperated ears) in relation to age in osteogenesis imperfecta type I. (9228859)
1997
47
Scanning electron microscopy of teeth in osteogenesis imperfecta type I. (8734703)
1996
48
Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains. (8808594)
1996
49
Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type I. (8544188)
1995
50
Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. (7942841)
1994

Variations for Osteogenesis Imperfecta, Type I

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UniProtKB/Swiss-Prot genetic disease variations for Osteogenesis Imperfecta, Type I:

70 (show all 26)
id Symbol AA change Variation ID SNP ID
1COL1A1p.Gly221CysVAR_001644
2COL1A1p.Gly224CysVAR_001645
3COL1A1p.Gly263ArgVAR_001646
4COL1A1p.Gly263ValVAR_001647
5COL1A1p.Gly272CysVAR_001648
6COL1A1p.Gly1079SerVAR_001714
7COL1A1p.Gly1195CysVAR_001731
8COL1A1p.Gly194ArgVAR_063292
9COL1A1p.Gly200ValVAR_063294
10COL1A1p.Gly266GluVAR_063298
11COL1A1p.Gly287SerVAR_063299
12COL1A1p.Gly320ValVAR_063302
13COL1A1p.Val349PheVAR_063304
14COL1A1p.Pro555ArgVAR_063313
15COL1A1p.Gly647SerVAR_063319
16COL1A1p.Gly722SerVAR_063321
17COL1A1p.Gly1157AspVAR_063338
18COL1A1p.Asp1219GluVAR_063339
19COL1A2p.Gly211AspVAR_001852rs72656378
20COL1A2p.Gly328SerVAR_001855rs66612022
21COL1A2p.Gly736CysVAR_001879rs72658173
22COL1A2p.Gly835SerVAR_001890rs72658193
23COL1A2p.Gly247ArgVAR_063346
24COL1A2p.Gly319ArgVAR_063350rs72656393
25COL1A2p.Gly733CysVAR_063363rs72658172
26COL1A2p.Cys1195TyrVAR_063383rs72659342

Clinvar genetic disease variations for Osteogenesis Imperfecta, Type I:

5 (show all 27)
id Gene Variation Type Significance SNP ID Assembly Location
1COL1A1NM_ 000088.3(COL1A1): c.814G> T (p.Gly272Cys)SNVPathogenicrs72645331GRCh37Chr 17, 48274022: 48274022
2COL1A1NM_ 000088.3(COL1A1): c.4358_ 4362delAATTC (p.Glu1453Glyfs)deletionPathogenicrs72656352GRCh37Chr 17, 48262896: 48262900
3COL1A1NM_ 000088.3(COL1A1): c.1066G> T (p.Gly356Cys)SNVPathogenicrs72645365GRCh37Chr 17, 48273017: 48273017
4COL1A1NM_ 000088.3(COL1A1): c.3235G> A (p.Gly1079Ser)SNVPathogenicrs72654802GRCh37Chr 17, 48265483: 48265483
5COL1A1COL1A1, IVS26DS, G-A, +1SNVPathogenic
6COL1A1NM_ 000088.3(COL1A1): c.3421C> T (p.Arg1141Ter)SNVPathogenicrs72656314GRCh37Chr 17, 48264847: 48264847
7COL1A1COL1A1, IVS19DS, G-C, +1SNVPathogenic
8COL1A1NM_ 000088.3(COL1A1): c.91C> T (p.Gln31Ter)SNVPathogenicrs794726873GRCh37Chr 17, 48278784: 48278784
9COL1A1NM_ 000088.3(COL1A1): c.959G> A (p.Gly320Asp)SNVLikely pathogenicrs72645353GRCh37Chr 17, 48273559: 48273559
10COL1A1NM_ 000088.3(COL1A1): c.1767+2T> GSNVPathogenicrs794727394GRCh37Chr 17, 48271302: 48271302
11COL1A1NM_ 000088.3(COL1A1): c.2866G> A (p.Gly956Arg)SNVLikely pathogenicrs797045033GRCh38Chr 17, 50189239: 50189239
12COL1A1NM_ 000088.3(COL1A1): c.2775delT (p.Gly926Valfs)deletionPathogenicrs878853274GRCh37Chr 17, 48266792: 48266792
13COL1A1NM_ 000088.3(COL1A1): c.1678G> A (p.Gly560Ser)SNVPathogenicrs67507747GRCh37Chr 17, 48271393: 48271393
14COL1A1NM_ 000088.3(COL1A1): c.3935G> A (p.Trp1312Ter)SNVLikely pathogenicrs886039880GRCh37Chr 17, 48263748: 48263748
15COL1A1NM_ 000088.3(COL1A1): c.1875+1G> CSNVPathogenicrs72651622GRCh37Chr 17, 48270157: 48270157
16COL1A1NM_ 000088.3(COL1A1): c.2434G> A (p.Gly812Ser)SNVLikely pathogenicrs886042260GRCh37Chr 17, 48267705: 48267705
17COL1A1NM_ 000088.3(COL1A1): c.3567delT (p.Gly1190Valfs)deletionPathogenicrs886042286GRCh37Chr 17, 48264248: 48264248
18COL1A1NM_ 000088.3(COL1A1): c.2930G> T (p.Gly977Val)SNVLikely pathogenicrs886042308GRCh37Chr 17, 48266536: 48266536
19COL1A1NM_ 000088.3(COL1A1): c.472-1G> CSNVPathogenicrs72667020GRCh37Chr 17, 48275866: 48275866
20COL1A1NM_ 000088.3(COL1A1): c.896delG (p.Gly299Valfs)deletionPathogenicrs886042473GRCh37Chr 17, 48273852: 48273852
21COL1A1NM_ 000088.3(COL1A1): c.643-2A> GSNVPathogenicrs886042602GRCh37Chr 17, 48275148: 48275148
22COL1A1NM_ 000088.3(COL1A1): c.2991delT (p.Gly998Valfs)deletionPathogenicrs886042603GRCh37Chr 17, 48266318: 48266318
23COL1A1NM_ 000088.3(COL1A1): c.3939C> A (p.Tyr1313Ter)SNVPathogenicrs886042609GRCh37Chr 17, 48263744: 48263744
24COL1A1NM_ 000088.3(COL1A1): c.3162delT (p.Gly1055Alafs)deletionPathogenicrs72654794GRCh37Chr 17, 48265936: 48265936
25COL1A1NM_ 000088.3(COL1A1): c.2089C> T (p.Arg697Ter)SNVPathogenicrs72651642GRCh37Chr 17, 48269187: 48269187
26COL1A2NM_ 000089.3(COL1A2): c.2656G> A (p.Gly886Ser)SNVLikely pathogenicrs886043796GRCh37Chr 7, 94053738: 94053738
27COL1A1NM_ 000088.3(COL1A1): c.2161C> T (p.Gln721Ter)SNVPathogenic/ Likely pathogenicrs193922145GRCh37Chr 17, 48268818: 48268818

Expression for genes affiliated with Osteogenesis Imperfecta, Type I

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Search GEO for disease gene expression data for Osteogenesis Imperfecta, Type I.

Pathways for genes affiliated with Osteogenesis Imperfecta, Type I

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GO Terms for genes affiliated with Osteogenesis Imperfecta, Type I

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Sources for Osteogenesis Imperfecta, Type I

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet