OI
MCID: CL1004
MIFTS: 29

Col1a1/2-Related Osteogenesis Imperfecta (OI)

Categories: Bone diseases

Aliases & Classifications for Col1a1/2-Related Osteogenesis Imperfecta

MalaCards integrated aliases for Col1a1/2-Related Osteogenesis Imperfecta:

Name: Col1a1/2-Related Osteogenesis Imperfecta 24
Osteogenesis Imperfecta 73
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:



External Ids:

UMLS 73 C0029434

Summaries for Col1a1/2-Related Osteogenesis Imperfecta

MalaCards based summary : Col1a1/2-Related Osteogenesis Imperfecta, also known as osteogenesis imperfecta, is related to osteogenesis imperfecta, type v and osteogenesis imperfecta, type iv, and has symptoms including back pain, sciatica and muscle cramp. Affiliated tissues include bone, bone marrow and liver.

GeneReviews: NBK1295

Related Diseases for Col1a1/2-Related Osteogenesis Imperfecta

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



Diseases related to Col1a1/2-Related Osteogenesis Imperfecta

Symptoms & Phenotypes for Col1a1/2-Related Osteogenesis Imperfecta

UMLS symptoms related to Col1a1/2-Related Osteogenesis Imperfecta:


back pain, sciatica, muscle cramp

Drugs & Therapeutics for Col1a1/2-Related Osteogenesis Imperfecta

Search Clinical Trials , NIH Clinical Center for Col1a1/2-Related Osteogenesis Imperfecta

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Genetic Tests for Col1a1/2-Related Osteogenesis Imperfecta

Anatomical Context for Col1a1/2-Related Osteogenesis Imperfecta

MalaCards organs/tissues related to Col1a1/2-Related Osteogenesis Imperfecta:

41
Bone, Bone Marrow, Liver, Skin, Testes, Heart, Brain

Publications for Col1a1/2-Related Osteogenesis Imperfecta

Articles related to Col1a1/2-Related Osteogenesis Imperfecta:

(show top 50) (show all 429)
# Title Authors Year
1
Incorporating the patient perspective in the study of rare bone disease: insights from the osteogenesis imperfecta community. ( 30191258 )
2018
2
Osteogenesis imperfecta and keratoconus in an Italian family. ( 28971516 )
2018
3
Efficacy and Safety of Denosumab Therapy for Osteogenesis Imperfecta Patients with Osteoporosis-Case Series. ( 30477250 )
2018
4
Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis. ( 29946973 )
2018
5
The use of magnetically controlled growing rods in paediatric Osteogenesis Imperfecta with early onset, progressive scoliosis. ( 29644031 )
2018
6
Anesthetic considerations for scoliosis surgery in a patient with recessive severe/lethal form of osteogenesis imperfecta. ( 30117226 )
2018
7
Development of scoliosis in young children with osteogenesis imperfecta undergoing intravenous bisphosphonate therapy. ( 30187275 )
2018
8
Expert's comment concerning Grand Rounds case entitled "Type V osteogenesis imperfecta undergoing surgical correction for scoliosis" by M. Jones et al. (Eur Spine J; 2018: doi 10.1007/s00586-018-5465-8). ( 29388091 )
2018
9
Type V osteogenesis imperfecta undergoing surgical correction for scoliosis. ( 29460010 )
2018
10
Delayed, Reversible Cervical Paralysis After Scoliosis Corrective Surgery in a Child with Osteogenesis Imperfecta: A Case Report. ( 29538094 )
2018
11
Gamma Knife Radiosurgery for Trigeminal Neuralgia Associated with Osteogenesis Imperfecta. ( 29626679 )
2018
12
A novel variant of osteogenesis imperfecta type IV and low serum phosphorus level caused by a Val94Asp mutation in COL1A1. ( 29344653 )
2018
13
Sequential traumatic corneal open globe rupture in a patient with osteogenesis imperfecta type I. ( 30128364 )
2018
14
Implant therapy for a patient with osteogenesis imperfecta type I: review of literature with a case report. ( 30467787 )
2018
15
17q21.32-q22 Deletion in a girl with osteogenesis imperfecta, tricho-dento-osseous syndrome, and intellectual disability. ( 29896840 )
2018
16
Intraoperative bleeding in patients with osteogenesis imperfecta type III treated by Fassier-Duval femoral rodding: analysis of risk factors. ( 28723699 )
2018
17
Osteogenesis imperfecta type III/Ehlers-Danlos overlap syndrome in a Chinese man. ( 29552444 )
2018
18
Pregnancies complicated by maternal osteogenesis imperfecta type III: a case report and review of literature. ( 29988651 )
2018
19
Treatment of tibial deformities with the Fassier-Duval telescopic nail and minimally invasive percutaneous osteotomies in patients with osteogenesis imperfecta type III. ( 30212425 )
2018
20
Mitral Regurgitation and Heart Failure as the First Presentation in a Patient with Features of Two Connective Tissue Disorders: A Rare Combination of Mucopolysaccharidosis and Osteogenesis Imperfecta? ( 29225276 )
2018
21
Atypical femur fracture in a woman with osteogenesis imperfecta and multiple myeloma. ( 30179215 )
2018
22
Osteogenesis Imperfecta and Extra-/Intradural Hematomas: A Case Report and Review of the Literature. ( 30430037 )
2018
23
Basilar impression in osteogenesis imperfecta treated with staged halo traction and posterior decompression with short-segment fusion. ( 30443144 )
2018
24
Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta. ( 30447692 )
2018
25
Do femoral fractures in adult patients with osteogenesis imperfecta imitate atypical femoral fractures? A case series. ( 30448959 )
2018
26
Bone Marrow Transplantation for Treatment of the Col1a2+/G610C Osteogenesis Imperfecta Mouse Model. ( 30535573 )
2018
27
Fatigue and disturbances of sleep in patients with osteogenesis imperfecta - a cross-sectional questionnaire study. ( 29310646 )
2018
28
Bilateral giant retinal tears in Osteogenesis Imperfecta. ( 29329516 )
2018
29
Fracture Patterns Differ Between Osteogenesis Imperfecta and Routine Pediatric Fractures. ( 29356793 )
2018
30
FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta. ( 29358272 )
2018
31
Novel variant in Sp7/Osx associated with recessive osteogenesis imperfecta with bone fragility and hearing impairment. ( 29382611 )
2018
32
Genotype and malocclusion in patients with osteogenesis imperfecta. ( 29388328 )
2018
33
4-PBA ameliorates cellular homeostasis in fibroblasts from osteogenesis imperfecta patients by enhancing autophagy and stimulating protein secretion. ( 29432813 )
2018
34
Diagnosis, follow-up and management of sleep-disordered breathing in children with osteogenesis imperfecta. ( 29454826 )
2018
35
Effects of a telescopic intramedullary rod for treating patients with osteogenesis imperfecta of the femur. ( 29456761 )
2018
36
ZOLEDRONIC ACID VERSUS ALENDRONATE IN THE TREATMENT OF CHILDREN WITH OSTEOGENESIS IMPERFECTA: A 2-YEAR CLINICAL STUDY. ( 29466057 )
2018
37
Evaluation of high resolution thermal imaging to determine the effect of vertebral fractures on associated skin surface temperature in children with osteogenesis imperfecta. ( 29479660 )
2018
38
Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta. ( 29499418 )
2018
39
Health-related quality of life of children and adolescents with osteogenesis imperfecta: a cross-sectional study using PedsQL™. ( 29499676 )
2018
40
Hypercalcemia and hypercalciuria during denosumab treatment in children with osteogenesis imperfecta type VI. ( 29504582 )
2018
41
Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfecta. ( 29512769 )
2018
42
Temporomandibular disorders and psychosocial status in osteogenesis imperfecta - a cross-sectional study. ( 29514671 )
2018
43
Novel compound heterozygous mutations in SERPINH1 cause rare autosomal recessive osteogenesis imperfecta type X. ( 29520608 )
2018
44
Elevated platelet counts in a cohort of children with moderate-severe osteogenesis imperfecta suggest that inflammation is present. ( 29535113 )
2018
45
Pulmonary and diaphragmatic pathology in collagen type I α1 mutant mice with osteogenesis imperfecta. ( 29538357 )
2018
46
Osteogenesis imperfecta and therapeutics. ( 29540309 )
2018
47
Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or III. ( 29543922 )
2018
48
Low Dose of Bisphosphonate Enhances Sclerostin Antibody-Induced Trabecular Bone Mass Gains in Brtl/+ Osteogenesis Imperfecta Mouse Model. ( 29544018 )
2018
49
Complex heterozygous WNT1 mutation in severe recessive osteogenesis imperfecta of a Chinese patient. ( 29552441 )
2018
50
Successful anterior cruciate ligament reconstruction and meniscal repair in osteogenesis imperfecta. ( 29556892 )
2018

Variations for Col1a1/2-Related Osteogenesis Imperfecta

Expression for Col1a1/2-Related Osteogenesis Imperfecta

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

Pathways for Col1a1/2-Related Osteogenesis Imperfecta

GO Terms for Col1a1/2-Related Osteogenesis Imperfecta

Sources for Col1a1/2-Related Osteogenesis Imperfecta

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10 dbSNP
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17 ExPASy
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54 NINDS
55 Novoseek
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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