MCID: OST122
MIFTS: 56

Osteogenesis Imperfecta, Type Iii malady

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

Aliases & Classifications for Osteogenesis Imperfecta, Type Iii

About this section
Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 68Wikipedia, 67UniProtKB/Swiss-Prot, 65UMLS, 51Orphanet, 47Novoseek, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Osteogenesis Imperfecta, Type Iii:

Name: Osteogenesis Imperfecta, Type Iii 49
Osteogenesis Imperfecta Type Iii 68 45 67 65
Progressively Deforming Osteogenesis Imperfecta with Normal Sclerae 68 67
Progressive Deforming Osteogenesis Imperfecta 45 51
Severe Osteogenesis Imperfecta 45 51
Osteogenesis Imperfecta 3 67 24
Oi, Type Iii 47 67
 
Oi Type Iii 11 45
Oi Type 3 45 51
Osteogenesis Imperfecta, Progressively Deforming with Normal Sclerae 45
Osteogenesis Imperfecta Type 3 51
Progressively Deforming Oi 45
Oi-Iii 67
Oi3 67

Characteristics:

Orphanet epidemiological data:

51
progressive deforming osteogenesis imperfecta:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

61
osteogenesis imperfecta, type iii:
Inheritance: autosomal recessive inheritance, autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 259420
Orphanet51 216812
ICD10 via Orphanet28 Q78.0
MESH via Orphanet37 C536044
UMLS via Orphanet66 C0268362
MedGen34 C0268362
MeSH36 D010013
UMLS65 C0268362

Summaries for Osteogenesis Imperfecta, Type Iii

About this section
NIH Rare Diseases:45 Osteogenesis imperfecta type iii (oi type iii) is a form of osteogenesis imperfecta, a group of genetic conditions that primarily affect the bones. in oi type iii, specifically, a diagnosis can often be made shortly after birth as fractures (broken bones) during the newborn period simply from handling the infant are common. other signs and symptoms vary significantly from person to person but may include severe bone fragility, bone malformations, short stature, dental problems (dentinogenesis imperfect), macrocephaly (unusually large head), hearing loss, and blue sclerae (whites of the eyes). most affected people are unable to walk without assistance. oi type iii is caused by changes (mutations) in the col1a1 or col1a2 genes and is inherited in an autosomal dominant manner. treatment is based on the signs and symptoms present in each person. last updated: 3/24/2016

MalaCards based summary: Osteogenesis Imperfecta, Type Iii, also known as osteogenesis imperfecta type iii, is related to progressively deforming osteogenesis imperfecta and osteogenesis imperfecta, and has symptoms including neonatal short-limb short stature, severe generalized osteoporosis and multiple prenatal fractures. An important gene associated with Osteogenesis Imperfecta, Type Iii is COL1A2 (Collagen Type I Alpha 2), and among its related pathways are VEGFR3 signaling in lymphatic endothelium and Inflammatory Response Pathway. Affiliated tissues include bone, eye and bone marrow, and related mouse phenotypes are adipose tissue and limbs/digits/tail.

UniProtKB/Swiss-Prot:67 Osteogenesis imperfecta 3: 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. OI3 is characterized by progressively deforming bones, very short stature, a triangular face, severe scoliosis, grayish sclera and dentinogenesis imperfecta.

Description from OMIM:49 259420

Related Diseases for Osteogenesis Imperfecta, Type Iii

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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 Lepre1-Related Osteogenesis Imperfecta
Ppib-Related Osteogenesis Imperfecta Serpinf1-Related Osteogenesis Imperfecta
Serpinh1-Related Osteogenesis Imperfecta Sp7-Related Osteogenesis Imperfecta
Tmem38b-Related Osteogenesis Imperfecta Sparc-Related Osteogenesis Imperfecta
Wnt1-Related Osteogenesis Imperfecta

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

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1progressively deforming osteogenesis imperfecta11.3
2osteogenesis imperfecta10.7
3congenital trigeminal anesthesia10.7COL1A1, COL1A2
4col4a1-related disorders10.6COL1A1, COL1A2
5idiopathic linear interstitial keratitis10.6COL1A1, COL1A2
6eif4g1-related parkinson disease10.6COL1A1, COL1A2
7osteogenesis imperfecta, type iv10.6COL1A1, COL1A2
8prok2-related isolated gonadotropin-releasing hormone deficiency10.5COL1A2, SERPINF1
9autosomal dominant microcephaly10.5COL1A1, COL1A2
10anodontia10.5BGLAP, COL1A2
11lymph node adenoid cystic carcinoma10.4CD36, COL1A1, COL1A2
12ehlers-danlos syndrome, classic type10.4CD36, COL1A1, COL1A2
13mental retardation, autosomal recessive 3510.4COL1A1, COL1A2
14osteogenesis imperfecta levin type10.4BGLAP, CD36
15anterior cruciate ligament tears10.4BGLAP, COL1A1, COL1A2
16ankylosis10.4BGLAP, COL1A1, COL1A2
17aortic aneurysm, familial abdominal, 410.3FKBP10, SERPINF1
18darier disease10.3COL1A1, COL1A2
19osteogenesis imperfecta, type vii10.3CD36, CRTAP
20pontocerebellar hypoplasia, type 2e10.3FKBP10, SERPINF1
21marcus gunn phenomenon10.3BGLAP, CD36
22dicrocoeliasis10.2COL1A1, COL1A2
23ulceration of vulva10.1BGLAP, COL1A1, WNT1
24caffey disease10.1BGLAP, CD36, COL1A1, COL1A2
25yellow fever10.1CRTAP, SERPINH1
26atrophoderma vermiculata10.1CD36, CREB3L1
27chromosomal disease10.0BGLAP, COL1A1
28brachydactyly10.0
29arachnoiditis10.0
30arachnoid cysts10.0
31cerebellar hypoplasia10.0
32cerebellar angioblastoma9.7COL1A1, COL1A2, P3H1, PPIB, SERPINH1
33chylomicron retention disease9.5BGLAP, CD36, COL1A1, COL1A2, WNT1
34depressed scar9.4COL1A1, COL1A2, CRTAP, FKBP10, SERPINH1
35ehlers-danlos syndrome, cardiac valvular form9.3CD36, COL1A1, COL1A2, CRTAP, P3H1, PPIB
36bone deterioration disease9.1COL1A1, COL1A2, CRTAP, FKBP10, P3H1, PPIB
37branchiootic syndrome8.4COL1A1, COL1A2, CRTAP, FKBP10, P3H1, PPIB
38osteogenesis imperfecta, type iii8.3CD36, COL1A1, COL1A2, CRTAP, FKBP10, PPIB
39primary eye hypotony7.5BMP1, COL1A1, COL1A2, CRTAP, FKBP10, P3H1
40osteogenesis imperfecta, type ii5.9BGLAP, BMP1, CD36, COL1A1, COL1A2, CREB3L1

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



Diseases related to osteogenesis imperfecta, type iii

Symptoms for Osteogenesis Imperfecta, Type Iii

About this section

Symptoms by clinical synopsis from OMIM:

259420

Clinical features from OMIM:

259420

HPO human phenotypes related to Osteogenesis Imperfecta, Type Iii:

(show all 25)
id Description Frequency HPO Source Accession
1 neonatal short-limb short stature HP:0008921
2 severe generalized osteoporosis HP:0005897
3 multiple prenatal fractures HP:0005855
4 basilar impression HP:0005758
5 decreased calvarial ossification HP:0005474
6 biconcave vertebral bodies HP:0004586
7 protrusio acetabuli HP:0003179
8 slender long bone HP:0003100
9 bowing of limbs due to multiple fractures HP:0003023
10 tibial bowing HP:0002982
11 kyphosis HP:0002808
12 recurrent fractures HP:0002757
13 platybasia HP:0002691
14 scoliosis HP:0002650
15 wormian bones HP:0002645
16 pulmonary hypertension HP:0002092
17 frontal bossing HP:0002007
18 abnormality of the thorax HP:0000765
19 abnormality of the nervous system HP:0000707
20 dentinogenesis imperfecta HP:0000703
21 blue sclerae HP:0000592
22 hearing impairment HP:0000365
23 micrognathia HP:0000347
24 triangular face HP:0000325
25 wide anterior fontanel HP:0000260

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Iii

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

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PamidronateapprovedPhase 34340391-99-94674
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
2DiphosphonatesPhase 3, Phase 2381
3Bone Density Conservation AgentsPhase 3, Phase 22600
4HormonesPhase 311748
5
Zoledronic acidPhase 3, Phase 2286118072-93-868740
Synonyms:
(1-Hydroxy-2-imidazol-1-ylethylidene)diphosphonic acid
(1-hydroxy-2-(1H-imidazol-1-yl)ethylidene)bisphosphonic acid
(1-hydroxy-2-imidazol-1-yl-1-phosphonoethyl)phosphonic acid
(1-hydroxy-2-imidazol-1-yl-phosphonoethyl)phosphonic acid monohydrate
118072-93-8
2-(imidazol-1-yl)-1-hydroxyethane-1,1-diphosphonic acid
2-(imidazol-1-yl)-1-hydroxyethylidene-1,1-bisphosphonic acid
AC-1092
AC1L2ACJ
AC1Q6RN3
AKOS005145739
Aclasta
BIDD:GT0292
BIDD:PXR0134
Bio-0112
Bisphosphonate 3
C088658
CGP 42'446
CGP 42446
CGP 42446A
CGP-42'446
CGP-42446
CHEBI:46557
CHEMBL924
CID68740
D08689
 
DB00399
FT-0082657
HMS2089O09
I06-0710
KS-1132
LS-181815
MolPort-002-885-874
MolPort-003-850-890
NCGC00159521-02
NCGC00159521-03
NSC721517
Novartis brand of zoledronic acid
Reclast
Reclast (TN)
S00092
S1314_Selleck
UNII-70HZ18PH24
ZOL
Zoledronate
Zoledronic acid
Zoledronic acid (INN)
Zoledronic acid [USAN:INN]
Zometa
Zometa (Novartis)
Zometa (TN)
Zometa Concentrate
Zometa, Zomera, Aclasta and Reclast, Zoledronic Acid
[1-hydroxy-2-(1H-imidazol-1-yl)ethane-1,1-diyl]bis(phosphonic acid)
6Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 39988
7Hormone AntagonistsPhase 310002
8
Busulfanapproved, investigationalPhase 150655-98-12478
Synonyms:
1, 4-Dimethanesulfonoxybutane
1, 4-Dimethylsulfonoxybutane
1, {4-Bis[methanesulfonoxy]butane}
1,4-BUTANEDIOL DIMETHANESULFONATE
1,4-Bis(methanesulfonoxy)butane
1,4-Bis(methanesulfonyloxy)butane
1,4-Bis[methanesulfonoxy]butane
1,4-Butanedi yl dimethanesulfonate
1,4-Butanediol dimethanesulfonate
1,4-Butanediol dimethanesulphonate
1,4-Butanediol dimethylsulfonate
1,4-Butanediol, dimethanesulfonate
1,4-Butanediol, dimethanesulphonate
1,4-Butanediyl dimethanesulfonate
1,4-Di(methylsulfonoxy)butane
1,4-Dimesyloxybutane
1,4-Dimethane sulfonyl oxybutane
1,4-Dimethanesulfonoxybutane
1,4-Dimethanesulfonoxylbutane
1,4-Dimethanesulfonyloxybutane
1,4-Dimethanesulphonyloxybutane
1,4-Dimethylsulfonoxybutane
1,4-Dimethylsulfonyloxybutane
2041 C. B
2041 C. B.
2041 C.B
2041 C.B.
4-((Methylsulfonyl)oxy)butyl methanesulfonate
4-methylsulfonyloxybutyl methanesulfonate
55-98-1
AC-198
AC1L1DRQ
AC1Q4GRQ
AI3-25012
AKOS003614975
AN 33501
Ambap55-98-1
B1022
B2635_FLUKA
B2635_SIGMA
BRN 1791786
BSPBio_001920
BUSULFAN (1,4-BUTANEDIOL, DIMETHANESULFONATE)
Bisulfex
Busilvex
Busulfan
Busulfan (JP15/USP/INN)
Busulfan GlaxoSmithKline Brand
Busulfan Orphan Brand
Busulfan Wellcome
Busulfan Wellcome Brand
Busulfan [INN:JAN]
Busulfano
Busulfano [INN-Spanish]
Busulfanum
Busulfanum [INN-Latin]
Busulfex
Busulphan
Busulphane
Butanedioldimethanesulfonate
Buzulfan
C.B. 2041
C6H14O6S2
CB 2041
CCRIS 418
CHEBI:28901
CHEMBL820
CID2478
CPD000058613
Citosulfan
D002066
D00248
DB01008
DivK1c_000847
EINECS 200-250-2
FT-0083567
G.T. 41
GT 2041
GT 41
Glaxo Wellcome Brand of Busulfan
GlaxoSmithKline Brand of Busulfan
Glyzophrol
HMS1920I07
HMS2091O09
HMS502K09
 
HSDB 7605
I09-1371
IDI1_000847
InChI=1/C6H14O6S2/c1-13(7,8)11-5-3-4-6-12-14(2,9)10/h3-6H2,1-2H3
KBio1_000847
KBio2_000512
KBio2_003080
KBio2_005648
KBio3_001420
KBioGR_000698
KBioSS_000512
LS-1358
Leucosulfan
MLS001076666
MYLERAN (TN)
Mablin
Methanesulfonic
Methanesulfonic acid, tetram ethylene ester
Methanesulfonic acid, tetramethylene ester
Mielevcin
Mielosan
Mielucin
Milecitan
Mileran
Misulban
Mitosan
Mitostan
MolPort-001-783-406
Myeleukon
Myeloleukon
Myelosan
Myelosanum
Mylecytan
Myleran
Myleran Tablets
Myleran tablets
Myleran, Busulfex, Busulfan
Mylerlan
NCGC00090905-01
NCGC00090905-02
NCGC00090905-03
NCGC00090905-04
NCGC00090905-05
NCGC00090905-06
NCGC00090905-07
NCI-C01592
NCI60_041640
NCIMech_000192
NINDS_000847
NSC 750
NSC-750
NSC-750sulphabutin
NSC750
Orphan Brand of Busulfan
Prestwick_989
S1692_Selleck
SAM002554887
SMR000058613
SPBio_000253
SPECTRUM1500152
ST50825921
Spectrum2_000067
Spectrum3_000320
Spectrum4_000259
Spectrum5_000928
Spectrum_000092
Sulfabutin
Sulfabutin (VAN)
Sulphabutin
Tetramethylene Dimethane Sulfonate
Tetramethylene bis(methanesulfonate)
Tetramethylene bis[methanesulfonate]
Tetramethylene dimethane sulfonate
Tetramethylene {bis[methanesulfonate]}
Tetramethylenester Kyseliny Methansulfonove
Tetramethylenester kyseliny methansulfonove
Tetramethylenester kyseliny methansulfonove [Czech]
UNII-G1LN9045DK
WLN: WS1&O4OSW1
Wellcome Brand of Busulfan
Wellcome, Busulfan
X 149
acid, tetramethylene ester
alkylating agent: crosslinks guanine residues
busulfan
butane-1,4-diyl dimethanesulfonate
n-Butane-1,3-di(methylsulfonate)
9
Cyclophosphamideapproved, investigationalPhase 1264350-18-0, 6055-19-22907
Synonyms:
(+-)-Cyclophosphamide
(-)-Cyclophosphamide
(RS)-Cyclophosphamide
1-(bis(2-chloroethyl)amino)-1-oxo-2-aza-5-oxaphosphoridine
1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridin
2-[Bis(2-chloroethylamino)]-tetrahydro-2H-1,3,2-oxazaphosphorine-2-oxide
4-Hydroxy-cyclophosphan-mamophosphatide
50-18-0
60007-95-6
6055-19-2 (monohydrate)
75526-90-8
AC1L1EQQ
AI3-26198
ASTA
ASTA B518
Asta B 518
B 518
B-518
BRN 0011744
BSPBio_002099
Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester
C 0768
C07888
C7H15Cl2N2O2P
CB 4564
CB-4564
CCRIS 188
CHEBI:4027
CHEMBL32520
CHEMBL88
CID2907
CP
CPA
CTX
CY
Ciclofosfamida
Ciclofosfamida [INN-Spanish]
Ciclofosfamide
Ciclophosphamide
Ciclophosphamide [INN]
Clafen
Claphene
Cycloblastin
Cyclophosphamid
Cyclophosphamide
Cyclophosphamide (INN)
Cyclophosphamide (TN)
Cyclophosphamide (anhydrous form)
Cyclophosphamide (anhydrous)
Cyclophosphamide Monohydrate
Cyclophosphamide Sterile
Cyclophosphamide anhydrous
Cyclophosphamide, (+-)-Isomer
Cyclophosphamides
Cyclophosphamidum
Cyclophosphamidum [INN-Latin]
Cyclophosphan
Cyclophosphane
Cyclophosphanum
Cyclophosphoramide
Cyclostin
Cyklofosfamid
Cyklofosfamid [Czech]
Cytophosphan
Cytophosphane
Cytoxan
Cytoxan (TN)
Cytoxan Lyoph
D,L-Cyclophosphamide
D07760
DB00531
 
DivK1c_000246
EINECS 200-015-4
EU-0100238
Endoxan
Endoxan R
Endoxan-Asta
Endoxana
Endoxanal
Endoxane
Enduxan
Genoxal
HMS2090A12
HSDB 3047
Hexadrin
IDI1_000246
KBio1_000246
KBio2_001338
KBio2_003906
KBio2_006474
KBio3_001319
KBioGR_000888
KBioSS_001338
LS-1302
LS-99787
Ledoxina
Lopac-C-0768
Lopac0_000238
Lyophilized Cytoxan
Mitoxan
MolPort-001-783-420
N,N-Bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide
N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
NCGC00015209-01
NCGC00015209-03
NCGC00015209-06
NCGC00091741-02
NCGC00091741-03
NCI-C04900
NCI60_002097
NINDS_000246
NSC 26271
NSC-26271
NSC26271
NSC273033
NSC273034
Neosar
Occupation, cyclophosphamide exposure
Procytox
RCRA waste no. U058
Rcra Waste Number U058
Rcra waste number U058
Revimmune
S1217_Selleck
SK 20501
SPBio_001071
STK177249
STOCK2S-91217
Semdoxan
Sendoxan
Senduxan
Spectrum2_001146
Spectrum3_000370
Spectrum4_000304
Spectrum5_000795
Spectrum_000858
UNII-6UXW23996M
WLN: T6MPOTJ BO BN2G2G
Zyklophosphamid
Zyklophosphamid [German]
bis(2-Chloroethyl)phosphami de cyclic propanolamide
bis(2-Chloroethyl)phosphamide cyclic propanolamide ester
cyclophosphamide
10CyclosporinsPhase 1873

Interventional clinical trials:

idNameStatusNCT IDPhase
1An Efficacy and Safety Trial of Intravenous Zoledronic Acid in Infants Less Than One Year of Age, With Severe Osteogenesis ImperfectaCompletedNCT00982124Phase 3
2Pamidronate to Treat Osteogenesis Imperfecta in ChildrenCompletedNCT00005901Phase 3
3Growth Hormone Therapy in Osteogenesis ImperfectaActive, not recruitingNCT00001305Phase 3
4Zoledronic Acid in Children (1 -17 Years) With Severe Osteogenesis ImperfectaCompletedNCT00131118Phase 2
5Repeated Infusions of Mesenchymal Stromal Cells in Children With Osteogenesis ImperfectaCompletedNCT01061099Phase 1
6Treatment of Severe Osteogenesis Imperfecta by Allogeneic Bone Marrow TransplantationCompletedNCT00705120Phase 1
7Evaluation and Intervention for the Effects of Osteogenesis ImperfectaRecruitingNCT00001594

Search NIH Clinical Center for Osteogenesis Imperfecta, Type Iii

Genetic Tests for Osteogenesis Imperfecta, Type Iii

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Anatomical Context for Osteogenesis Imperfecta, Type Iii

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

33
Bone, Eye, Bone marrow, Prostate, Pituitary, B cells, T cells

Animal Models for Osteogenesis Imperfecta, Type Iii or affiliated genes

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MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Iii:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.3BMP1, CD36, COL1A1, COL1A2, CREB3L1, P3H1
2MP:00053718.0BMP1, COL1A1, COL1A2, CREB3L1, FKBP10, P3H1
3MP:00053827.8BMP1, COL1A1, FKBP10, PPIB, SERPINH1, WNT1
4MP:00053697.8BMP1, CD36, COL1A1, COL1A2, P3H1, WNT1
5MP:00053857.5BMP1, CD36, COL1A1, COL1A2, FKBP10, SERPINF1
6MP:00053786.5BMP1, CD36, COL1A1, COL1A2, CREB3L1, CRTAP
7MP:00053905.5BMP1, CD36, COL1A1, COL1A2, CREB3L1, CRTAP

Publications for Osteogenesis Imperfecta, Type Iii

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Articles related to Osteogenesis Imperfecta, Type Iii:

(show all 29)
idTitleAuthorsYear
1
Increased nuchal translucency and short femur length as possible early signs of osteogenesis imperfecta type III. (23741540)
2013
2
Identification of a missense mutation of c.3064G>A, Gly1022Ser in exon 43 of COL1A1 gene in a girl with osteogenesis imperfecta type III. (23072183)
2012
3
Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2. (19208385)
2009
4
New trends in the treatment of osteogenesis imperfecta type III - own experience. (19153548)
2008
5
Severe cerebellar hypoplasia associated with osteogenesis imperfecta type III. (17719950)
2007
6
Carcinoma of left colon presenting as mechanical obstruction in a patient with osteogenesis imperfecta type III. (17171434)
2007
7
Comparison of nanoindentation measurements between osteogenesis imperfecta Type III and Type IV and between different anatomic locations (femur/tibia versus iliac crest). (17453908)
2007
8
Further safety enhancement of a specialized power assisted tricycle for a child with osteogenesis imperfecta type III and design of an adjustble hand power tricycle. (16817593)
2006
9
Safety enhancement of a specialized power assisted tricycle for a child with osteogenesis imperfecta type III. (15850131)
2005
10
Treatment of poor linear growth in a patient with osteogenesis imperfecta type III. (15598484)
2004
11
Gly511 to Ser substitution in the COL1A1 gene in osteogenesis imperfecta type III patient with increased turnover of collagen. (12870654)
2003
12
Calcium kinetics in children with osteogenesis imperfecta type III and IV: pre- and post-growth hormone therapy. (10920211)
2000
13
Effect of growth hormone treatment on calcium kinetics in patients with osteogenesis imperfecta type III and IV. (10511119)
1999
14
Parental mosaicism and autosomal dominant mutations causing structural abnormalities of collagen I are frequent in families with osteogenesis imperfecta type III/IV. (9240878)
1997
15
Histopathologic and electron-microscopic features of corneal and scleral collagen fibers in osteogenesis imperfecta type III. (9248835)
1997
16
Arachnoid cyst and chronic subdural haematoma in a child with osteogenesis imperfecta type III resulting from the substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen. (8728690)
1996
17
A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III. (7860070)
1995
18
Type 1 collagen synthesis by skin fibroblasts from 17 patients with osteogenesis imperfecta type III. (8747514)
1995
19
A novel G1006A substitution in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III. (7749416)
1995
20
A Gly859Ser substitution in the triple helical domain of the alpha 2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals. (8081394)
1994
21
Substitution of glycine-172 by arginine in the alpha 1 chain of type I collagen in a patient with osteogenesis imperfecta, type III. (8019571)
1994
22
A single amino acid deletion in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III. (8444468)
1993
23
Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible. (8100856)
1993
24
Collagen studies in an osteogenesis imperfecta type III family. (3214053)
1988
25
Prenatal diagnosis of osteogenesis imperfecta type III. (3547385)
1987
26
Osteogenesis imperfecta type III: an ancient mutation in Africa? (3425600)
1987
27
Abnormal procollagen synthesis in fibroblasts from three patients of the same family with a severe form of osteogenesis imperfecta (type III). (3768427)
1986
28
Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity. (3953678)
1986
29
On the paradoxically high relative prevalence of osteogenesis imperfecta type III in the black population of South Africa. (3995789)
1985

Variations for Osteogenesis Imperfecta, Type Iii

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

67 (show all 41)
id Symbol AA change Variation ID SNP ID
1COL1A1p.Gly332ArgVAR_001650
2COL1A1p.Gly350ArgVAR_001651
3COL1A1p.Gly530SerVAR_001666
4COL1A1p.Gly593CysVAR_001673
5COL1A1p.Gly593SerVAR_001674
6COL1A1p.Gly704CysVAR_001678
7COL1A1p.Gly719SerVAR_001680
8COL1A1p.Gly767SerVAR_001686
9COL1A1p.Gly821SerVAR_001690
10COL1A1p.Gly884SerVAR_001697
11COL1A1p.Gly1022SerVAR_001702
12COL1A1p.Gly1040SerVAR_001705
13COL1A1p.Gly1049SerVAR_001708
14COL1A1p.Gly1058SerVAR_001709
15COL1A1p.Gly1076SerVAR_001713
16COL1A1p.Gly1151SerVAR_001722
17COL1A1p.Gly1187SerVAR_001729
18COL1A1p.Leu1464ProVAR_001737
19COL1A1p.Gly866SerVAR_008118
20COL1A1p.Gly203ValVAR_063295
21COL1A2p.Gly337CysVAR_001857
22COL1A2p.Gly337SerVAR_001858
23COL1A2p.Gly349CysVAR_001860
24COL1A2p.Gly460SerVAR_001863
25COL1A2p.Gly517ArgVAR_001865
26COL1A2p.Gly676ValVAR_001875
27COL1A2p.Gly778SerVAR_001884
28COL1A2p.Gly892AspVAR_001892
29COL1A2p.Gly949SerVAR_001894
30COL1A2p.Gly1012SerVAR_001897
31COL1A2p.Gly1096AlaVAR_001901
32COL1A2p.Thr1148ProVAR_001904rs1800250
33COL1A2p.Gly331AspVAR_008119
34COL1A2p.Gly973ValVAR_008120
35COL1A2p.Gly358SerVAR_063352
36COL1A2p.Gly676AspVAR_063361
37COL1A2p.Gly820SerVAR_063370
38COL1A2p.Gly835CysVAR_063371
39COL1A2p.Gly856ArgVAR_063372
40COL1A2p.Gly991ValVAR_063377
41COL1A2p.Gly1087AspVAR_063381

Clinvar genetic disease variations for Osteogenesis Imperfecta, Type Iii:

5 (show all 25)
id Gene Variation Type Significance SNP ID Assembly Location
1COL1A2NM_000089.3(COL1A2): c.4001_4004delATAA (p.Asn1334Serfs)deletionPathogenicrs72659345GRCh37Chr 7, 94059605: 94059608
2COL1A2NM_000089.3(COL1A2): c.775G> T (p.Gly259Cys)single nucleotide variantPathogenicrs121912905GRCh37Chr 7, 94038118: 94038118
3COL1A2NM_000089.3(COL1A2): c.1757G> T (p.Gly586Val)single nucleotide variantPathogenicrs121912907GRCh37Chr 7, 94044575: 94044575
4COL1A2COL1A2, VAL255DELdeletionPathogenic
5COL1A2NM_000089.3(COL1A2): c.2575G> A (p.Gly859Ser)single nucleotide variantPathogenicrs72658200GRCh37Chr 7, 94053657: 94053657
6COL1A2NM_000089.3(COL1A2): c.3017G> C (p.Gly1006Ala)single nucleotide variantPathogenicrs121912911GRCh37Chr 7, 94055754: 94055754
7COL1A2NM_000089.3(COL1A2): c.2251G> A (p.Gly751Ser)single nucleotide variantPathogenicrs72658176GRCh37Chr 7, 94049916: 94049916
8COL1A2NM_000089.3(COL1A2): c.1099G> T (p.Gly367Trp)single nucleotide variantPathogenicrs72656402GRCh37Chr 7, 94039741: 94039741
9COL1A2NM_000089.3(COL1A2): c.3269G> A (p.Gly1090Asp)single nucleotide variantPathogenicrs267606742GRCh37Chr 7, 94056940: 94056940
10COL1A2NM_000089.3(COL1A2): c.3295G> A (p.Gly1099Arg)single nucleotide variantPathogenicrs72659338GRCh37Chr 7, 94056966: 94056966
11COL1A1NM_000088.3(COL1A1): c.2110G> T (p.Gly704Cys)single nucleotide variantPathogenicrs67368147GRCh37Chr 17, 48269166: 48269166
12COL1A1NM_000088.3(COL1A1): c.3064G> A (p.Gly1022Ser)single nucleotide variantPathogenicrs66523073GRCh37Chr 17, 48266138: 48266138
13COL1A1COL1A1, EX22DELdeletionPathogenic
14COL1A1NM_000088.3(COL1A1): c.994G> A (p.Gly332Arg)single nucleotide variantPathogenicrs72645357GRCh37Chr 17, 48273524: 48273524
15COL1A1NM_000088.3(COL1A1): c.1588G> A (p.Gly530Ser)single nucleotide variantPathogenicrs67682641GRCh37Chr 17, 48271736: 48271736
16COL1A1NM_000088.3(COL1A1): c.3118G> A (p.Gly1040Ser)single nucleotide variantPathogenicrs72653178GRCh37Chr 17, 48265980: 48265980
17COL1A1NM_000088.3(COL1A1): c.2515G> A (p.Gly839Ser)single nucleotide variantPathogenicrs72653131GRCh37Chr 17, 48267406: 48267406
18COL1A1NM_000088.3(COL1A1): c.4391T> C (p.Leu1464Pro)single nucleotide variantPathogenicrs72656353GRCh37Chr 17, 48262867: 48262867
19COL1A1COL1A1, 562-BP DELdeletionPathogenic
20COL1A1NM_000088.3(COL1A1): c.761G> A (p.Gly254Glu)single nucleotide variantPathogenicrs72645320GRCh37Chr 17, 48274414: 48274414
21COL1A1NM_000088.3(COL1A1): c.959G> A (p.Gly320Asp)single nucleotide variantLikely pathogenicrs72645353GRCh37Chr 17, 48273559: 48273559
22COL1A2NM_000089.3(COL1A2): c.1971+1G> Asingle nucleotide variantPathogenicrs72658151GRCh37Chr 7, 94047144: 94047144
23COL1A2NM_000089.3(COL1A2): c.2099G> A (p.Gly700Asp)single nucleotide variantPathogenicrs72658161GRCh38Chr 7, 94420252: 94420252
24COL1A2NM_000089.3(COL1A2): c.3034G> A (p.Gly1012Ser)single nucleotide variantLikely pathogenicrs72659319GRCh38Chr 7, 94426459: 94426459
25COL1A2NM_000089.3(COL1A2): c.2957C> T (p.Pro986Leu)single nucleotide variantLikely pathogenicrs768171831GRCh37Chr 7, 94055323: 94055323

Expression for genes affiliated with Osteogenesis Imperfecta, Type Iii

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

Pathways for genes affiliated with Osteogenesis Imperfecta, Type Iii

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GO Terms for genes affiliated with Osteogenesis Imperfecta, Type Iii

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

idNameGO IDScoreTop Affiliating Genes
1collagen type I trimerGO:000558410.0COL1A1, COL1A2
2endoplasmic reticulumGO:00057839.2COL1A1, CRTAP, SERPINH1
3endoplasmic reticulum lumenGO:00057888.7BGLAP, PPIB, WNT1

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1protein peptidyl-prolyl isomerizationGO:000041310.3FKBP10, PPIB
2collagen biosynthetic processGO:003296410.2COL1A1, SERPINH1
3collagen catabolic processGO:003057410.0COL1A1, COL1A2
4cellular response to amino acid stimulusGO:00712309.9COL1A1, COL1A2
5skin morphogenesisGO:00435899.7COL1A1, COL1A2
6platelet activationGO:00301689.6CD36, COL1A1, COL1A2
7blood coagulationGO:00075969.6CD36, COL1A1, COL1A2
8ossificationGO:00015039.5BGLAP, BMP1, COL1A1
9extracellular matrix disassemblyGO:00226179.4BMP1, COL1A1, COL1A2
10bone developmentGO:00603489.2BGLAP, PPIB, WNT1

Sources for Osteogenesis Imperfecta, Type Iii

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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