Col1a1/2 Osteogenesis Imperfecta disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

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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

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Related Diseases for Col1a1/2 Osteogenesis Imperfecta

Diseases related to Col1a1/2 Osteogenesis Imperfecta via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)

#	Related Disease	Score
1	cole-carpenter syndrome	11.1
2	bone disease	10.8
3	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	10.2
4	bone mineral density quantitative trait locus 15	10.2
5	osteogenesis imperfecta, type vi	10.2
6	osteogenesis imperfecta, type i	10.2
7	osteogenesis imperfecta, type ii	10.2
8	osteogenesis imperfecta, type iv	10.2
9	osteogenesis imperfecta, type iii	10.2
10	brittle bone disorder	10.2
11	scoliosis	10.2
12	sensorineural hearing loss	10.2
13	dentinogenesis imperfecta	10.2
14	osteogenesis imperfecta, type v	10.1
15	rickets	10.1
16	coxa vara	10.0
17	osteoporosis	10.0
18	osteogenic sarcoma	10.0
19	osteogenesis imperfecta, type vii	10.0
20	bone mineral density quantitative trait locus 8	10.0
21	helix syndrome	10.0
22	deficiency anemia	10.0
23	inguinal hernia	10.0
24	neutropenia	10.0
25	enterocele	10.0
26	hypermobility syndrome	10.0
27	connective tissue disease	10.0
28	tenosynovitis	10.0
29	posttransplant acute limbic encephalitis	10.0

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

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Symptoms & Phenotypes for Col1a1/2 Osteogenesis Imperfecta

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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

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Genetic Tests for Col1a1/2 Osteogenesis Imperfecta

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Anatomical Context for Col1a1/2 Osteogenesis Imperfecta

Organs/tissues related to Col1a1/2 Osteogenesis Imperfecta:

MalaCards : Bone, Bone Marrow, Heart

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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	Ablin DS...Sane SM	9028840	1997
2	Osteogenesis imperfecta. ⁶² ²⁴	Byers PH...Steiner RD	1580589	1992
3	Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta. ²⁴	Moosa S...Netzer C	31564437	2019
4	Mendelian bone fragility disorders. ²⁴	Robinson ME...Rauch F	31039433	2019
5	Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients. ²⁴	Maioli M...Sangiorgi L	30886339	2019
6	A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly. ²⁴	Budsamongkol T...Shotelersuk V	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	Bains JS...Raggio CL	31131341	2019
8	Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature. ²⁴	Balasubramanian M...Loeys B	30684648	2019
9	The Forteo Patient Registry linkage to multiple state cancer registries: study design and results from the first 8 years. ²⁴	Gilsenan A...Andrews E	29978254	2018
10	ZOLEDRONIC ACID VERSUS ALENDRONATE IN THE TREATMENT OF CHILDREN WITH OSTEOGENESIS IMPERFECTA: A 2-YEAR CLINICAL STUDY. ²⁴	Lv F...Xing X	29466057	2018
11	Denosumab: an Emerging Therapy in Pediatric Bone Disorders. ²⁴	Boyce AM	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	Stenson PD...Cooper DN	28349240	2017
13	Bisphosphonate therapy for osteogenesis imperfecta. ²⁴	Dwan K...Basel D	27760454	2016
14	Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in COL1A2. ²⁴	Frederiksen AL...Kroigard AB	27761249	2016
15	Safety and efficacy of denosumab in children with osteogenesis imperfect--a first prospective trial. ²⁴	Hoyer-Kuhn H...Semler O	26944820	2016
16	Nosology and classification of genetic skeletal disorders: 2015 revision. ²⁴	Bonafe L...Unger S	26394607	2015
17	Heart disease in patients with osteogenesis imperfecta - A systematic review. ²⁴	Ashournia H...Brixen K	26100571	2015
18	Two years' experience with denosumab for children with osteogenesis imperfecta type VI. ²⁴	Hoyer-Kuhn H...Semler O	25257953	2014
19	Evaluation of teriparatide treatment in adults with osteogenesis imperfecta. ²⁴	Orwoll ES...Lee B	24463451	2014
20	Transplanted bone marrow mononuclear cells and MSCs impart clinical benefit to children with osteogenesis imperfecta through different mechanisms. ²⁴	Otsuru S...Horwitz EM	22829629	2012
21	EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta. ²⁴	van Dijk FS...Pals G	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	Pyott SM...Byers PH	21239989	2011
23	Alendronate for the treatment of pediatric osteogenesis imperfecta: a randomized placebo-controlled study. ²⁴	Ward LM...Glorieux FH	21106710	2011
24	Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta. ²⁴	Ben Amor IM...Rauch F	21912751	2011
25	Complete COL1A1 allele deletions in osteogenesis imperfecta. ²⁴	van Dijk FS...Pals G	21113976	2010
26	GH in combination with bisphosphonate treatment in osteogenesis imperfecta. ²⁴	Antoniazzi F...Tato L	20592128	2010
27	A randomized, controlled dose-ranging study of risedronate in children with moderate and severe osteogenesis imperfecta. ²⁴	Bishop N...Rigby A	19580461	2010
28	Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition. ²⁴	Basel D...Steiner RD	19533842	2009
29	Osteogenesis imperfecta type III with intracranial hemorrhage and brachydactyly associated with mutations in exon 49 of COL1A2. ²⁴	Faqeih E...Rauch F	19208385	2009
30	Connective tissue and vascular phenotype in patients with cervical artery dissection. ²⁴	Dittrich R...Kuhlenbaumer G	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	Malfait F...De Paepe A	17211858	2007
32	Stapes surgery in Japanese patients with osteogenesis imperfecta. ²⁴	Doi K...Kubo T	17245052	2007
33	Syndromes with congenital brittle bones. ²⁴	Plotkin H	15339338	2004
34	Stapes surgery in osteogenesis imperfecta in Finland. ²⁴	Kuurila K...Grenman R	15053199	2004
35	Stapes surgery in osteogenesis imperfecta: results of a new series. ²⁴	van der Rijt AJ...Cremers CW	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	Marini JC...Reing CM	12568401	2003
37	Intravenous neridronate in adults with osteogenesis imperfecta. ²⁴	Adami S...Tato L	12510813	2003
38	Pamidronate treatment of severe osteogenesis imperfecta in a newborn infant. ²⁴	Chien YH...Hwu WL	12638943	2002
39	Testing for osteogenesis imperfecta in cases of suspected non-accidental injury. ²⁴	Marlowe A...Byers PH	12070242	2002
40	Osteogenesis imperfecta: mode of delivery and neonatal outcome. ²⁴	Cubert R...Byers PH	11152910	2001
41	Pamidronate treatment of severe osteogenesis imperfecta in children under 3 years of age. ²⁴	Plotkin H...Glorieux FH	10843163	2000
42	Bone mineral content and collagen defects in osteogenesis imperfecta. ²⁴	Lund AM...Skovby F	10565454	1999
43	Osteogenesis imperfecta: bone turnover, bone density, and ultrasound parameters. ²⁴	Cepollaro C...Gennari C	10430645	1999
44	Basilar impression complicating osteogenesis imperfecta type IV: the clinical and neuroradiological findings in four cases. ²⁴	Hayes M...Sillence D	10084535	1999
45	Osteogenesis imperfecta. Rehabilitation and prospects for gene therapy. ²⁴	Marini JC...Gerber NL	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	Mayer SA...Byers PH	8757037	1996
47	Studies of collagen synthesis and structure in the differentiation of child abuse from osteogenesis imperfecta. ²⁴	Steiner RD...Byers PH	8618190	1996
48	Gastrointestinal problems in patients who have type-III osteogenesis imperfecta. ²⁴	Lee JH...Rinsky LA	7673285	1995
49	Perinatal lethal osteogenesis imperfecta. ²⁴	Cole WG...Dalgleish R	7643358	1995
50	Bone density measurement in osteogenesis imperfecta may well be important. ²⁴	Deodhar AA...Woolf AD	8029175	1994

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Genes for Col1a1/2 Osteogenesis Imperfecta

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Variations for Col1a1/2 Osteogenesis Imperfecta

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Expression for Col1a1/2 Osteogenesis Imperfecta

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

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Pathways for Col1a1/2 Osteogenesis Imperfecta

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GO Terms for Col1a1/2 Osteogenesis Imperfecta

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OI MCID: CL1007 MIFTS: 16	Col1a1/2 Osteogenesis Imperfecta (OI) Categories: Bone diseases	Data Licensing For inquiries, contact: [email protected]
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Col1a1/2 Osteogenesis Imperfecta (OI)

Aliases & Classifications for Col1a1/2 Osteogenesis Imperfecta

MalaCards integrated aliases for Col1a1/2 Osteogenesis Imperfecta:

Characteristics:

GeneReviews:

Classifications:

Summaries for Col1a1/2 Osteogenesis Imperfecta

Related Diseases for Col1a1/2 Osteogenesis Imperfecta

Diseases related to Col1a1/2 Osteogenesis Imperfecta via text searches within MalaCards or GeneCards Suite gene sharing:

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

Symptoms & Phenotypes for Col1a1/2 Osteogenesis Imperfecta

Drugs & Therapeutics for Col1a1/2 Osteogenesis Imperfecta

Interventional clinical trials:

Genetic Tests for Col1a1/2 Osteogenesis Imperfecta

Anatomical Context for Col1a1/2 Osteogenesis Imperfecta

Organs/tissues related to Col1a1/2 Osteogenesis Imperfecta:

Publications for Col1a1/2 Osteogenesis Imperfecta

Articles related to Col1a1/2 Osteogenesis Imperfecta:

Genes for Col1a1/2 Osteogenesis Imperfecta

Variations for Col1a1/2 Osteogenesis Imperfecta

Expression for Col1a1/2 Osteogenesis Imperfecta

Pathways for Col1a1/2 Osteogenesis Imperfecta

GO Terms for Col1a1/2 Osteogenesis Imperfecta

Sources for Col1a1/2 Osteogenesis Imperfecta