OI
MCID: CL1007
MIFTS: 16

Col1a1/2 Osteogenesis Imperfecta (OI)

Categories: Bone diseases
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Aliases & Classifications for Col1a1/2 Osteogenesis Imperfecta

MalaCards integrated aliases for Col1a1/2 Osteogenesis Imperfecta:

Name: Col1a1/2 Osteogenesis Imperfecta 24
Brittle Bone Disease 24
Oi 24

Characteristics:


GeneReviews:

24
Penetrance The penetrance in individuals heterozygous for a col1a1 or col1a2 pathogenic variant is 100%, although expression may vary considerably, even in the same family.

Classifications:



Summaries for Col1a1/2 Osteogenesis Imperfecta

MalaCards based summary: Col1a1/2 Osteogenesis Imperfecta, also known as brittle bone disease, is related to cole-carpenter syndrome and bone disease. Affiliated tissues include bone, bone marrow and heart.

GeneReviews: NBK1295

Related Diseases for Col1a1/2 Osteogenesis Imperfecta

Graphical network of the top 20 diseases related to Col1a1/2 Osteogenesis Imperfecta:



Diseases related to Col1a1/2 Osteogenesis Imperfecta

Symptoms & Phenotypes for Col1a1/2 Osteogenesis Imperfecta

Drugs & Therapeutics for Col1a1/2 Osteogenesis Imperfecta

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Preventive Fixation of Lower Limbs in Osteogenesis Imperfecta (Brittle Bone Disease) With the Highlight of the Fassier-Duval Unknown status NCT02868294
2 Rare Diseases Clinical Research Network Brittle Bone Disease Consortium Longitudinal Study of Osteogenesis Imperfecta Recruiting NCT02432625

Search NIH Clinical Center for Col1a1/2 Osteogenesis Imperfecta

Genetic Tests for Col1a1/2 Osteogenesis Imperfecta

Anatomical Context for Col1a1/2 Osteogenesis Imperfecta

Organs/tissues related to Col1a1/2 Osteogenesis Imperfecta:

MalaCards : Bone, Bone Marrow, Heart

Publications for Col1a1/2 Osteogenesis Imperfecta

Articles related to Col1a1/2 Osteogenesis Imperfecta:

(show top 50) (show all 204)
# Title Authors PMID Year
1
Non-accidental injury: confusion with temporary brittle bone disease and mild osteogenesis imperfecta. 62 24
9028840 1997
2
Osteogenesis imperfecta. 62 24
1580589 1992
3
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta. 24
31564437 2019
4
Mendelian bone fragility disorders. 24
31039433 2019
5
Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients. 24
30886339 2019
6
A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly. 24
31193991 2019
7
A Multicenter Observational Cohort Study to Evaluate the Effects of Bisphosphonate Exposure on Bone Mineral Density and Other Health Outcomes in Osteogenesis Imperfecta. 24
31131341 2019
8
Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature. 24
30684648 2019
9
The Forteo Patient Registry linkage to multiple state cancer registries: study design and results from the first 8 years. 24
29978254 2018
10
ZOLEDRONIC ACID VERSUS ALENDRONATE IN THE TREATMENT OF CHILDREN WITH OSTEOGENESIS IMPERFECTA: A 2-YEAR CLINICAL STUDY. 24
29466057 2018
11
Denosumab: an Emerging Therapy in Pediatric Bone Disorders. 24
28643220 2017
12
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 24
28349240 2017
13
Bisphosphonate therapy for osteogenesis imperfecta. 24
27760454 2016
14
Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in COL1A2. 24
27761249 2016
15
Safety and efficacy of denosumab in children with osteogenesis imperfect--a first prospective trial. 24
26944820 2016
16
Nosology and classification of genetic skeletal disorders: 2015 revision. 24
26394607 2015
17
Heart disease in patients with osteogenesis imperfecta - A systematic review. 24
26100571 2015
18
Two years' experience with denosumab for children with osteogenesis imperfecta type VI. 24
25257953 2014
19
Evaluation of teriparatide treatment in adults with osteogenesis imperfecta. 24
24463451 2014
20
Transplanted bone marrow mononuclear cells and MSCs impart clinical benefit to children with osteogenesis imperfecta through different mechanisms. 24
22829629 2012
21
EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta. 24
21829228 2012
22
Recurrence of perinatal lethal osteogenesis imperfecta in sibships: parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance. 24
21239989 2011
23
Alendronate for the treatment of pediatric osteogenesis imperfecta: a randomized placebo-controlled study. 24
21106710 2011
24
Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta. 24
21912751 2011
25
Complete COL1A1 allele deletions in osteogenesis imperfecta. 24
21113976 2010
26
GH in combination with bisphosphonate treatment in osteogenesis imperfecta. 24
20592128 2010
27
A randomized, controlled dose-ranging study of risedronate in children with moderate and severe osteogenesis imperfecta. 24
19580461 2010
28
Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition. 24
19533842 2009
29
Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2. 24
19208385 2009
30
Connective tissue and vascular phenotype in patients with cervical artery dissection. 24
17562832 2007
31
Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood. 24
17211858 2007
32
Stapes surgery in Japanese patients with osteogenesis imperfecta. 24
17245052 2007
33
Syndromes with congenital brittle bones. 24
15339338 2004
34
Stapes surgery in osteogenesis imperfecta in Finland. 24
15053199 2004
35
Stapes surgery in osteogenesis imperfecta: results of a new series. 24
14501445 2003
36
Positive linear growth and bone responses to growth hormone treatment in children with types III and IV osteogenesis imperfecta: high predictive value of the carboxyterminal propeptide of type I procollagen. 24
12568401 2003
37
Intravenous neridronate in adults with osteogenesis imperfecta. 24
12510813 2003
38
Pamidronate treatment of severe osteogenesis imperfecta in a newborn infant. 24
12638943 2002
39
Testing for osteogenesis imperfecta in cases of suspected non-accidental injury. 24
12070242 2002
40
Osteogenesis imperfecta: mode of delivery and neonatal outcome. 24
11152910 2001
41
Pamidronate treatment of severe osteogenesis imperfecta in children under 3 years of age. 24
10843163 2000
42
Bone mineral content and collagen defects in osteogenesis imperfecta. 24
10565454 1999
43
Osteogenesis imperfecta: bone turnover, bone density, and ultrasound parameters. 24
10430645 1999
44
Basilar impression complicating osteogenesis imperfecta type IV: the clinical and neuroradiological findings in four cases. 24
10084535 1999
45
Osteogenesis imperfecta. Rehabilitation and prospects for gene therapy. 24
9042848 1997
46
Spontaneous multivessel cervical artery dissection in a patient with a substitution of alanine for glycine (G13A) in the alpha 1 (I) chain of type I collagen. 24
8757037 1996
47
Studies of collagen synthesis and structure in the differentiation of child abuse from osteogenesis imperfecta. 24
8618190 1996
48
Gastrointestinal problems in patients who have type-III osteogenesis imperfecta. 24
7673285 1995
49
Perinatal lethal osteogenesis imperfecta. 24
7643358 1995
50
Bone density measurement in osteogenesis imperfecta may well be important. 24
8029175 1994

Variations for Col1a1/2 Osteogenesis Imperfecta

Expression for Col1a1/2 Osteogenesis Imperfecta

Search GEO for disease gene expression data for Col1a1/2 Osteogenesis Imperfecta.

Pathways for Col1a1/2 Osteogenesis Imperfecta

GO Terms for Col1a1/2 Osteogenesis Imperfecta

Sources for Col1a1/2 Osteogenesis Imperfecta

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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