Osteogenesis Imperfecta malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Oral diseases categories

Aliases & Classifications for Osteogenesis Imperfecta

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8Disease Ontology, 64Wikipedia, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 22GTR, 32MedlinePlus, 61UMLS, 56SNOMED-CT, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet, 25ICD10
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Aliases & Descriptions for Osteogenesis Imperfecta:

Name: Osteogenesis Imperfecta 8 64 42 20 21 10 44 48 22 32 61
Brittle Bone Disease 8 64 42 21 48
Oi 64 42 21 48
Fragilitas Ossium 64 42 21
Osteopsathyrosis 8 64 48
Vrolik Disease 64 42 21
Osteogenesis Imperfecta, Recessive Perinatal Lethal 61
Osteogenesis Imperfecta, Dominant Perinatal Lethal 61
Porak and Durante Disease 48
Ekman-Lobstein Disease 64
Lobstein's Syndrome 8
Glass Bone Disease 48
Lobstein's Disease 61
Vrolik's Disease 8
Lobstein Disease 48


Characteristics (Orphanet epidemiological data):

osteogenesis imperfecta:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages

External Ids:

Disease Ontology8 DOID:12347
Orphanet48 666
MESH via Orphanet34 D010013
ICD10 via Orphanet26 Q78.0
UMLS via Orphanet62 C0029434
ICD1025 Q78.0

Summaries for Osteogenesis Imperfecta

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MedlinePlus:32 Osteogenesis imperfecta (oi) is a genetic disorder in which bones break easily. sometimes the bones break for no known reason. oi can also cause weak muscles, brittle teeth, a curved spine, and hearing loss. oi is caused by one of several genes that aren't working properly. when these genes don't work, it affects how you make collagen, a protein that helps make bones strong. oi can range from mild to severe, and symptoms vary from person to person. a person may have just a few or as many as several hundred fractures in a lifetime. no single test can identify oi. your doctor using your medical and family history, physical exam, and imaging and lab tests to diagnose it. your doctor may also test your collagen (from skin) or genes (from blood). there is no cure, but you can manage symptoms. treatments include exercise, pain medicine, physical therapy, wheelchairs, braces, and surgery. nih: national institute of arthritis and musculoskeletal and skin diseases

MalaCards based summary: Osteogenesis Imperfecta, also known as brittle bone disease, is related to osteogenesis imperfecta, type i and osteogenesis imperfecta, type iii, and has symptoms including macrocephaly, prominent occiput and micrognathia. An important gene associated with Osteogenesis Imperfecta is COL1A2 (collagen, type I, alpha 2), and among its related pathways are VEGFR3 signaling in lymphatic endothelium and Osteoblast Signaling. The drugs calcitonin and salmon calcitonin and the compounds nppa and ti6al4v have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and testes, and related mouse phenotypes are respiratory system and cardiovascular system.

Disease Ontology:8 An osteochondrodysplasia that has material basis in a deficiency in type-i collagen which results in brittle bones and defective connective tissue.

Genetics Home Reference:21 Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People with this condition have bones that break easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime.

NIH Rare Diseases:42 Osteogenesis imperfecta (oi) is a group of genetic disorders that mainly affect the bones. people with this condition have bones that break easily, often from mild trauma or with no apparent cause. multiple fractures are common, and in severe cases, can occur even before birth. milder cases may involve only a few fractures over a person's lifetime. there are at least eight recognized forms of osteogenesis imperfecta, designated type i through type viii. the types can be distinguished by their signs and symptoms, as well as by genetic factors. depending on the genetic cause, oi may be inherited in an autosomal dominant (more commonly) or autosomal recessive pattern. last updated: 10/3/2011

Wikipedia:64 Osteogenesis imperfecta (OI), also known as brittle bone disease or Lobstein syndrome, is a congenital... more...

Related Diseases for Osteogenesis Imperfecta

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Diseases in the Osteogenesis Imperfecta family:

Osteogenesis Imperfecta, Type Viii Osteogenesis Imperfecta, Type Vii
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 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 Osteogenesis Imperfecta Type 1a
Osteogenesis Imperfecta Type 2a Osteogenesis Imperfecta Type 2b
Crtap-Related Osteogenesis Imperfecta Lepre1-Related Osteogenesis Imperfecta
Ppib-Related Osteogenesis Imperfecta Fkbp10-Related Osteogenesis Imperfecta
Serpinf1-Related Osteogenesis Imperfecta Serpinh1-Related Osteogenesis Imperfecta
Sp7-Related Osteogenesis Imperfecta Ifitm5-Related Osteogenesis Imperfecta
Bmp1-Related Osteogenesis Imperfecta

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

(show top 50)    (show all 180)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta, type i32.3COL1A1, COL1A2
2osteogenesis imperfecta, type iii32.2COL1A1, COL1A2
3osteogenesis imperfecta, type ii32.1COL1A1
4osteogenesis imperfecta, type iv32.0COL1A1, COL1A2
5col1a1/2-related osteogenesis imperfecta31.5COL1A1, COL1A2
6ehlers-danlos syndrome31.1DSPP, COL1A1, COL1A2, CD36
7osteoporosis31.0CD36, COL1A1, IBSP, BGLAP
8otosclerosis31.0COL1A1, COL1A2, CD36
9idiopathic juvenile osteoporosis31.0BGLAP, COL1A1
10marfan syndrome30.8CD36, COL1A2
11rickets30.7CD36, BGLAP
12dentinogenesis imperfecta30.7IBSP, CD36, CRTAP, COL1A2, COL1A1, FKBP10
13fibrous dysplasia30.7IBSP, BGLAP
14secondary syphilis30.4BGLAP, IBSP, CD36
15connective tissue disease30.4DSPP, COL1A1, COL1A2, CD36
16osteoarthritis29.8BGLAP, IBSP, DSPP, COL1A1, COL1A2, CD36
17osteogenesis imperfecta, type v10.8
18osteogenesis imperfecta, type vi10.8
19perinatally lethal osteogenesis imperfecta10.7
20osteogenesis imperfecta, type vii10.6
21osteogenesis imperfecta, type ix10.6
22osteogenesis imperfecta, type viii10.6
23bruck syndrome10.6
24osteogenesis imperfecta, type xiii10.6
25osteogenesis imperfecta, type xiv10.6
26osteogenesis imperfecta, type x10.6
27osteogenesis imperfecta, type xv10.6
28osteogenesis imperfecta, type xii10.6
29osteogenesis imperfecta, type xi10.6
30osteogenesis imperfecta type 2a10.6
32caffey disease10.5COL1A1
33osteoporosis-pseudoglioma syndrome10.5
34osteogenesis imperfecta levin type10.5
35osteogenesis imperfecta type 2b10.5
36progressively deforming osteogenesis imperfecta10.5
37osteogenesis imperfecta type 1a10.5
38high bone mass osteogenesis imperfecta10.5
39gyrate atrophy of choroid and retina with or without ornithinemia10.5RNASE1
40dentinogenesis imperfecta, shields type ii10.4
42congenital osteogenesis imperfecta - microcephaly - cataracts10.4
43collagen disease10.4COL1A1, CD36
44fibromatosis, gingival10.4SERPINH1, CD36
45systemic scleroderma10.4COL1A2, COL1A1
46breast cancer10.4
47gnathodiaphyseal dysplasia10.4
49reflex sympathetic dystrophy10.4

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

Diseases related to osteogenesis imperfecta

Symptoms for Osteogenesis Imperfecta

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 48 (show all 53)
  • macrocephaly/macrocrania/megalocephaly/megacephaly
  • brachycephaly/flat occiput
  • prominent occiput/occipital bossing
  • poorly ossified skull/calvarium
  • micrognathia/retrognathia/micrognathism/retrognathism
  • blue sclerae
  • beaked nose
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • dentine anomaly
  • dental staining anomaly/spotted teeth/erythrodontia
  • multiple caries
  • pectus carinatum
  • rib structure anomalies
  • tibia anomaly (excluding short)/absence/agenesis/hypoplasia/tibial ray anomaly
  • abnormal gait
  • metaphyseal anomaly
  • enlarged diaphysis/diaphyses
  • autosomal dominant inheritance
  • intrauterine growth retardation
  • large fontanelle/delayed fontanelle closure
  • triangular face
  • glaucoma
  • corneal clouding/opacity/vascularisation
  • visual loss/blindness/amblyopia
  • narrow rib cage/thorax
  • scoliosis
  • abnormal vertebral size/shape
  • pelvis anomaly/narrow/broad iliac wings/pubis abnormality
  • femur anomaly/absence/agenesis/hypoplasia/bifurcation
  • genu valgum
  • hyperhidrosis/increased sweating
  • congenital cardiac anomaly/malformation/cardiopathy
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • bowed diaphysis/diaphyses/long bones
  • narrowed/gracile diaphysis/diaphyses/long bones/dolichostenomelia
  • cortical anomaly/thick bone cortical layer
  • hyperextensible joints/articular hyperlaxity
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • stillbirth/neonatal death
  • wormian bones
  • hearing loss/hypoacusia/deafness
  • pectus excavatum
  • kyphosis
  • inguinal/inguinoscrotal/crural hernia
  • umbilical hernia
  • short limbs/micromelia/brachymelia
  • purpura/petichiae
  • endocardium anomalies/fibroelastosis/endocarditis
  • visceral angiomatosis (excluding skin)
  • mutiple fractures/bone fragility
  • thrombocytopenia/thrombopenia
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism

HPO human phenotypes related to Osteogenesis Imperfecta:

(show all 43)
id Description Frequency HPO Source Accession
1 macrocephaly hallmark (90%) HP:0000256
2 prominent occiput hallmark (90%) HP:0000269
3 micrognathia hallmark (90%) HP:0000347
4 convex nasal ridge hallmark (90%) HP:0000444
5 blue sclerae hallmark (90%) HP:0000592
6 carious teeth hallmark (90%) HP:0000670
7 pectus carinatum hallmark (90%) HP:0000768
8 abnormality of the ribs hallmark (90%) HP:0000772
9 abnormality of the metaphyses hallmark (90%) HP:0000944
10 gait disturbance hallmark (90%) HP:0001288
11 intrauterine growth retardation hallmark (90%) HP:0001511
12 abnormality of the tibia hallmark (90%) HP:0002992
13 decreased skull ossification hallmark (90%) HP:0004331
14 abnormality of dentin hallmark (90%) HP:0010299
15 abnormality of dental color hallmark (90%) HP:0011073
16 triangular face typical (50%) HP:0000325
17 glaucoma typical (50%) HP:0000501
18 visual impairment typical (50%) HP:0000505
19 narrow chest typical (50%) HP:0000774
20 hyperhidrosis typical (50%) HP:0000975
21 joint hypermobility typical (50%) HP:0001382
22 malformation of the heart and great vessels typical (50%) HP:0002564
23 scoliosis typical (50%) HP:0002650
24 abnormality of the femur typical (50%) HP:0002823
25 genu valgum typical (50%) HP:0002857
26 slender long bone typical (50%) HP:0003100
27 abnormal cortical bone morphology typical (50%) HP:0003103
28 abnormality of the hip bone typical (50%) HP:0003272
29 abnormal form of the vertebral bodies typical (50%) HP:0003312
30 reduced bone mineral density typical (50%) HP:0004349
31 opacification of the corneal stroma typical (50%) HP:0007759
32 hearing impairment occasional (7.5%) HP:0000365
33 pectus excavatum occasional (7.5%) HP:0000767
34 umbilical hernia occasional (7.5%) HP:0001537
35 thrombocytopenia occasional (7.5%) HP:0001873
36 subcutaneous hemorrhage occasional (7.5%) HP:0001933
37 wormian bones occasional (7.5%) HP:0002645
38 recurrent fractures occasional (7.5%) HP:0002757
39 kyphosis occasional (7.5%) HP:0002808
40 micromelia occasional (7.5%) HP:0002983
41 abnormality of the endocardium occasional (7.5%) HP:0004306
42 short stature occasional (7.5%) HP:0004322
43 visceral angiomatosis occasional (7.5%) HP:0100761

Drugs & Therapeutics for Osteogenesis Imperfecta

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Drug clinical trials:

Search ClinicalTrials for Osteogenesis Imperfecta

Search NIH Clinical Center for Osteogenesis Imperfecta

Inferred drug relations via UMLS61/NDF-RT40:

Genetic Tests for Osteogenesis Imperfecta

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Genetic tests related to Osteogenesis Imperfecta:

id Genetic test Affiliating Genes
1 Osteogenesis Imperfecta20 22

Anatomical Context for Osteogenesis Imperfecta

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MalaCards organs/tissues related to Osteogenesis Imperfecta:

Bone, Skin, Testes, Heart, Bone marrow, Breast, Colon, Skeletal muscle, Lung, Thyroid, Uterus, Endothelial

Animal Models for Osteogenesis Imperfecta or affiliated genes

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Publications for Osteogenesis Imperfecta

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Articles related to Osteogenesis Imperfecta:

(show top 50)    (show all 885)
Development of a high-throughput resequencing array for the detection of pathogenic mutations in osteogenesis imperfecta. (25742658)
Interdisciplinary Care Improves Functional Mobility in an Individual with Type IX Osteogenesis Imperfecta. (25737674)
A cephalometric method to diagnosis the craniovertebral junction abnormalities in osteogenesis imperfecta patients. (25810828)
Osteogenesis imperfecta--multi-systemic and life-long disease that affects whole family. (25145021)
Effect of intravenous pamidronate treatment in children with osteogenesis imperfecta. (25233970)
Serum Sclerostin Levels are Decreased in Adult Patients with Different Types of Osteogenesis Imperfecta. (24203063)
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. (22949511)
Spinal deformities and Lung Function in Adults with Osteogenesis Imperfecta. (24308436)
Evaluation of the severity of malocclusions in children affected by osteogenesis imperfecta with the peer assessment rating and discrepancy indexes. (23452967)
Prenatal diagnosis of a missense mutation of c.2279G>A, Gly760Glu in exon 37 of COL1A2 in a fetus with familial osteogenesis imperfecta type IV and favorable outcome. (23548243)
Phenotype and genotype analysis of Chinese patients with osteogenesis imperfecta type V. (23977282)
Valvular and aortic diseases in osteogenesis imperfecta. (23791715)
Intravenous pamidronate treatment in children with moderate-to-severe osteogenesis imperfecta started under three years of age. (23735642)
Osteogenesis imperfecta type I: second-trimester diagnosis and incidental identification of a dominant COL1A1 deletion mutation in the paucisymptomatic father. (22795108)
Assessment of quality of life of parents of children with osteogenesis imperfecta. (23214306)
Safety and efficacy of a 1-year treatment with zoledronic acid compared with pamidronate in children with osteogenesis imperfecta. (22876543)
Identification of a deletion mutation in the short flanking repeat region of exon 44 of the COL1A1 gene in a fetus with osteogenesis imperfecta type II. (22795119)
Dentinogenesis imperfecta associated with osteogenesis imperfecta. (23162594)
Intravitreal bevacizumab for treatment of choroidal neovascularization associated with osteogenesis imperfecta. (22569391)
Osteogenesis imperfecta presenting as aneurysmal subarachnoid haemorrhage in a 53-year-old man. (22674700)
Osteogenesis imperfecta, multiple intra-abdominal arterial dissections and a ruptured dissecting-type intracranial aneurysm. (22005702)
Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding. (20089953)
The potential research impact of patient reported outcomes on osteogenesis imperfecta. (20458644)
Incomplete abortion at 13 weeks' gestation due to extreme pelvic deformity in a woman with severe osteogenesis imperfecta. (20143985)
Metaphyseal bands in osteogenesis imperfecta. (20351992)
Amelioration of a mouse model of osteogenesis imperfecta with hematopoietic stem cell transplantation: microcomputed tomography studies. (20417683)
Intravenous pamidronate in osteogenesis imperfecta type VII. (19137231)
A fracture risk assessment model of the femur in children with osteogenesis imperfecta (OI) during gait. (19683956)
A novel arginine-to-cysteine substitution in the triple helical region of the alpha1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers-Danlos phenotype. (18028452)
Case report: endourologic treatment for a ureteral stone in a patient with osteogenesis imperfecta. (18355141)
Cochlear implantation in 3 patients with osteogenesis imperfecta: imaging, surgery and programming issues. (18057871)
Quantitative second harmonic generation imaging of the diseased state osteogenesis imperfecta: experiment and simulation. (18281387)
Prospective comparative case study of uterine collagen in a woman with osteogenesis imperfecta type 1 who had previously ruptured her uterus. (17999312)
Second-trimester diagnosis of osteogenesis imperfecta associated with schizencephaly by sonography. (17676222)
Gene mutation analysis of a Chinese family with osteogenesis imperfecta]. (16604495)
Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect. (11771667)
Bisphosphonate therapy for severe osteogenesis imperfecta. (11086652)
Mutations in the carboxyl-terminal propeptide of the pro alpha 1(I) chain of type I collagen result in defective chain association and produce lethal osteogenesis imperfecta. (8349697)
A single amino acid deletion in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III. (8444468)
A novel glycine to glutamic acid substitution at position 343 in the alpha 2 chain of type I collagen in an individual with lethal osteogenesis imperfecta. (7906591)
Lethal perinatal osteogenesis imperfecta due to a type I collagen alpha 2(I) Gly to Arg substitution detected by chemical cleavage of an mRNA:cDNA sequence mismatch. (1284475)
Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta. (2052622)
Osteogenesis imperfecta: translation of mutation to phenotype. (1895312)
Substitutions for glycine alpha 1-637 and glycine alpha 2-694 of type I procollagen in lethal osteogenesis imperfecta. The conformational strain on the triple helix introduced by a glycine substitution can be transmitted along the helix. (1874719)
Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent. (2339700)
Hydrocephalus of intrauterine onset in perinatally lethal osteogenesis imperfecta: clinical, sonographic, and pathologic correlations. (3062601)
A point mutation in a type I procollagen gene converts glycine 748 of the alpha 1 chain to cysteine and destabilizes the triple helix in a lethal variant of osteogenesis imperfecta. (3667599)
Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation. (6092353)
Lethal forms of hereditary collagen disorders: Ehlers-Danlos syndrome type IV and congenital osteogenesis imperfecta. (7163269)
Aortic regurgitation and aneurysm of sinus of Valsalva associated with osteogenesis imperfecta. (4698138)

Variations for Osteogenesis Imperfecta

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Clinvar genetic disease variations for Osteogenesis Imperfecta:

5 (show all 100)
id Gene Variation Type Significance SNP ID Assembly Location
1COL1A2NM_000089.3(COL1A2): c.3034G> C (p.Gly1012Arg)single nucleotide variantPathogenicrs72659319GRCh37Chr 7, 94055771: 94055771
2COL1A2NM_000089.3(COL1A2): c.4001_4004delATAA (p.Asn1334Serfs)deletionPathogenicrs72659345GRCh37Chr 7, 94059605: 94059608
3COL1A2NM_000089.3(COL1A2): c.2720G> A (p.Gly907Asp)single nucleotide variantPathogenicrs121912900GRCh37Chr 7, 94054475: 94054475
4COL1A2NM_000089.3(COL1A2): c.1640G> A (p.Gly547Asp)single nucleotide variantPathogenicrs121912901GRCh37Chr 7, 94043234: 94043234
5COL1A2NM_000089.3(COL1A2): c.2593G> A (p.Gly865Ser)single nucleotide variantPathogenicrs121912902GRCh37Chr 7, 94053675: 94053675
6COL1A2NM_000089.3(COL1A2): c.1936G> T (p.Gly646Cys)single nucleotide variantPathogenicrs121912903GRCh37Chr 7, 94047108: 94047108
7COL1A2COL1A2, EX26DELdeletionPathogenic
8COL1A2NM_000089.3(COL1A2): c.2414G> A (p.Gly805Asp)single nucleotide variantPathogenicrs121912904GRCh37Chr 7, 94052279: 94052279
9COL1A2NM_000089.3(COL1A2): c.775G> T (p.Gly259Cys)single nucleotide variantPathogenicrs121912905GRCh37Chr 7, 94038118: 94038118
10COL1A2NM_000089.3(COL1A2): c.1414G> T (p.Gly472Cys)single nucleotide variantPathogenicrs121912906GRCh37Chr 7, 94041905: 94041905
11COL1A2NM_000089.3(COL1A2): c.1757G> T (p.Gly586Val)single nucleotide variantPathogenicrs121912907GRCh37Chr 7, 94044575: 94044575
12COL1A2NM_000089.3(COL1A2): c.2080G> C (p.Gly694Arg)single nucleotide variantPathogenicrs121912908GRCh37Chr 7, 94049545: 94049545
13COL1A2NM_000089.3(COL1A2): c.1739G> A (p.Gly580Asp)single nucleotide variantPathogenicrs121912909GRCh37Chr 7, 94044557: 94044557
14COL1A2COL1A2, VAL255DELdeletionPathogenic
15COL1A2NM_000089.3(COL1A2): c.2575G> A (p.Gly859Ser)single nucleotide variantPathogenicrs72658200GRCh37Chr 7, 94053657: 94053657
16COL1A2NM_000089.3(COL1A2): c.1504G> A (p.Gly502Ser)single nucleotide variantPathogenicrs121912910GRCh37Chr 7, 94042395: 94042395
17COL1A2COL1A2, 9-BP DEL, NT3418deletionPathogenic
18COL1A2COL1A2, IVS21DS, G-A, +5deletionPathogenic
19COL1A2NM_000089.3(COL1A2): c.3017G> C (p.Gly1006Ala)single nucleotide variantPathogenicrs121912911GRCh37Chr 7, 94055754: 94055754
20COL1A2NM_000089.3(COL1A2): c.2251G> A (p.Gly751Ser)single nucleotide variantPathogenicrs72658176GRCh37Chr 7, 94049916: 94049916
21COL1A2COL1A2, IVS26DS, A-G, +3single nucleotide variantPathogenic
22COL1A2NM_000089.3(COL1A2): c.1099G> T (p.Gly367Trp)single nucleotide variantPathogenicrs72656402GRCh37Chr 7, 94039741: 94039741
23COL1A2NM_000089.3(COL1A2): c.1136G> C (p.Gly379Ala)single nucleotide variantPathogenicrs121912912GRCh37Chr 7, 94039778: 94039778
24COL1A2NM_000089.3(COL1A2): c.1262G> A (p.Gly421Asp)single nucleotide variantPathogenicrs267606741GRCh37Chr 7, 94040378: 94040378
25COL1A2NM_000089.3(COL1A2): c.3269G> A (p.Gly1090Asp)single nucleotide variantPathogenicrs267606742GRCh37Chr 7, 94056940: 94056940
26COL1A2NM_000089.3(COL1A2): c.3295G> A (p.Gly1099Arg)single nucleotide variantPathogenicrs72659338GRCh37Chr 7, 94056966: 94056966
27COL1A1NM_000088.3(COL1A1): c.824G> A (p.Gly275Asp)single nucleotide variantPathogenicrs72645333GRCh37Chr 17, 48274012: 48274012
28COL1A1NM_000088.3(COL1A1): c.814G> T (p.Gly272Cys)single nucleotide variantPathogenicrs72645331GRCh37Chr 17, 48274022: 48274022
29COL1A1NM_000088.3(COL1A1): c.1057G> T (p.Gly353Cys)single nucleotide variantPathogenicrs66721653GRCh37Chr 17, 48273026: 48273026
30COL1A1NM_000088.3(COL1A1): c.1705G> C (p.Gly569Arg)single nucleotide variantPathogenicrs72648363GRCh37Chr 17, 48271366: 48271366
31COL1A1NM_000088.3(COL1A1): c.2110G> T (p.Gly704Cys)single nucleotide variantPathogenicrs67368147GRCh37Chr 17, 48269166: 48269166
32COL1A1NM_000088.3(COL1A1): c.2210G> A (p.Gly737Asp)single nucleotide variantPathogenicrs72651651GRCh37Chr 17, 48268769: 48268769
33COL1A1NM_000088.3(COL1A1): c.2552G> A (p.Gly851Asp)single nucleotide variantPathogenicrs72653137GRCh37Chr 17, 48267369: 48267369
34COL1A1NM_000088.3(COL1A1): c.2533G> A (p.Gly845Arg)single nucleotide variantPathogenicrs72653136GRCh37Chr 17, 48267388: 48267388
35COL1A1NM_000088.3(COL1A1): c.2605G> T (p.Gly869Cys)single nucleotide variantPathogenicrs72653143GRCh37Chr 17, 48267228: 48267228
36COL1A1NM_000088.3(COL1A1): c.2686G> T (p.Gly896Cys)single nucleotide variantPathogenicrs72653152GRCh37Chr 17, 48266881: 48266881
37COL1A1NM_000088.3(COL1A1): c.2776G> T (p.Gly926Cys)single nucleotide variantPathogenicrs72653154GRCh37Chr 17, 48266791: 48266791
38COL1A1NM_000088.3(COL1A1): c.3028G> A (p.Gly1010Ser)single nucleotide variantPathogenicrs72653169GRCh37Chr 17, 48266281: 48266281
39COL1A1NM_000088.3(COL1A1): c.3064G> A (p.Gly1022Ser)single nucleotide variantPathogenicrs66523073GRCh37Chr 17, 48266138: 48266138
40COL1A1NM_000088.3(COL1A1): c.3073G> A (p.Gly1025Arg)single nucleotide variantPathogenicrs72653172GRCh37Chr 17, 48266129: 48266129
41COL1A1NM_000088.3(COL1A1): c.3182G> A (p.Gly1061Asp)single nucleotide variantPathogenicrs72654797GRCh37Chr 17, 48265916: 48265916
42COL1A1NM_000088.3(COL1A1): c.3244G> T (p.Gly1082Cys)single nucleotide variantPathogenicrs72656303GRCh37Chr 17, 48265474: 48265474
43COL1A1NM_000088.3(COL1A1): c.3271G> A (p.Gly1091Ser)single nucleotide variantPathogenicrs72656306GRCh37Chr 17, 48265335: 48265335
44COL1A1NM_000088.3(COL1A1): c.3496G> T (p.Gly1166Cys)single nucleotide variantPathogenicrs72656324GRCh37Chr 17, 48264411: 48264411
45COL1A1NM_000088.3(COL1A1): c.3559G> A (p.Gly1187Ser)single nucleotide variantPathogenicrs72656332GRCh37Chr 17, 48264256: 48264256
46COL1A1COL1A1, EX22DELdeletionPathogenic
47COL1A1NM_000088.3(COL1A1): c.3583G> T (p.Gly1195Cys)single nucleotide variantPathogenicrs72656334GRCh37Chr 17, 48264232: 48264232
48COL1A1NM_000088.3(COL1A1): c.4358_4362delAATTC (p.Glu1453Glyfs)deletionPathogenicrs72656352GRCh37Chr 17, 48262896: 48262900
49COL1A1NM_000088.3(COL1A1): c.1066G> T (p.Gly356Cys)single nucleotide variantPathogenicrs72645365GRCh37Chr 17, 48273017: 48273017
50COL1A1NM_000088.3(COL1A1): c.2156G> A (p.Gly719Asp)single nucleotide variantPathogenicrs72651646GRCh37Chr 17, 48268823: 48268823
51COL1A1NM_000088.3(COL1A1): c.994G> A (p.Gly332Arg)single nucleotide variantPathogenicrs72645357GRCh37Chr 17, 48273524: 48273524
52COL1A1NM_000088.3(COL1A1): c.3541G> A (p.Gly1181Ser)single nucleotide variantPathogenicrs72656330GRCh37Chr 17, 48264274: 48264274
53COL1A1NM_000088.3(COL1A1): c.2444G> T (p.Gly815Val)single nucleotide variantPathogenicrs66929517GRCh37Chr 17, 48267695: 48267695
54COL1A1NM_000088.3(COL1A1): c.787G> A (p.Gly263Arg)single nucleotide variantPathogenicrs72645323GRCh37Chr 17, 48274388: 48274388
55COL1A1NM_000088.3(COL1A1): c.3452G> T (p.Gly1151Val)single nucleotide variantPathogenicrs72656321GRCh37Chr 17, 48264455: 48264455
56COL1A1NM_000088.3(COL1A1): c.1301G> T (p.Gly434Val)single nucleotide variantPathogenicrs72648333GRCh37Chr 17, 48272460: 48272460
57COL1A1NM_000088.3(COL1A1): c.3235G> A (p.Gly1079Ser)single nucleotide variantPathogenicrs72654802GRCh37Chr 17, 48265483: 48265483
58COL1A1NM_000088.3(COL1A1): c.2939G> T (p.Gly980Val)single nucleotide variantPathogenicrs72653166GRCh37Chr 17, 48266370: 48266370
59COL1A1NM_000088.3(COL1A1): c.1588G> A (p.Gly530Ser)single nucleotide variantPathogenicrs67682641GRCh37Chr 17, 48271736: 48271736
60COL1A1NM_000088.3(COL1A1): c.1777G> A (p.Gly593Ser)single nucleotide variantPathogenicrs66527965GRCh37Chr 17, 48270399: 48270399
61COL1A1NM_000088.3(COL1A1): c.2228G> T (p.Gly743Val)single nucleotide variantPathogenicrs72651653GRCh37Chr 17, 48268751: 48268751
62COL1A1COL1A1, IVS26DS, G-A, +1single nucleotide variantPathogenic
63COL1A1NM_000088.3(COL1A1): c.1598G> A (p.Gly533Asp)single nucleotide variantPathogenicrs72648356GRCh37Chr 17, 48271726: 48271726
64COL1A1NM_000088.3(COL1A1): c.3118G> A (p.Gly1040Ser)single nucleotide variantPathogenicrs72653178GRCh37Chr 17, 48265980: 48265980
65COL1A1NM_000088.3(COL1A1): c.2515G> A (p.Gly839Ser)single nucleotide variantPathogenicrs72653131GRCh37Chr 17, 48267406: 48267406
66COL1A1NM_000088.3(COL1A1): c.4391T> C (p.Leu1464Pro)single nucleotide variantPathogenicrs72656353GRCh37Chr 17, 48262867: 48262867
67COL1A1COL1A1, 562-BP DELdeletionPathogenic
68COL1A1NM_000088.3(COL1A1): c.3421C> T (p.Arg1141Ter)single nucleotide variantPathogenicrs72656314GRCh37Chr 17, 48264847: 48264847
69COL1A1NM_000088.3(COL1A1): c.2291G> T (p.Gly764Val)single nucleotide variantPathogenicrs72651657GRCh37Chr 17, 48268230: 48268230
70COL1A1COL1A1, IVS8DS, G-A, +1single nucleotide variantPathogenic
71COL1A1COL1A1, 3-BP DEL, 1964GGCdeletionPathogenic
72COL1A1COL1A1, IVS19DS, G-C, +1single nucleotide variantPathogenic
73COL1A1NM_000088.3(COL1A1): c.761G> A (p.Gly254Glu)single nucleotide variantPathogenicrs72645320GRCh37Chr 17, 48274414: 48274414
74SERPINF1SERPINF1, 2-BP DUP, 324CTduplicationPathogenic
75SERPINH1NM_001235.3(SERPINH1): c.233T> C (p.Leu78Pro)single nucleotide variantPathogenicrs137853892GRCh37Chr 11, 75277627: 75277627
76SP7SP7, 1-BP DEL, 1052AdeletionPathogenic
77FKBP10FKBP10, 35-BP DEL, NT122deletionPathogenic
78SERPINF1NM_002615.5(SERPINF1): c.696C> G (p.Tyr232Ter)single nucleotide variantPathogenicrs193302872GRCh37Chr 17, 1678404: 1678404
79SERPINF1NM_002615.5(SERPINF1): c.1132C> T (p.Gln378Ter)single nucleotide variantPathogenicrs193302873GRCh37Chr 17, 1680615: 1680615
80FKBP10FKBP10, 33-BP DEL, NT321deletionPathogenic
81FKBP10FKBP10, 1-BP DUP, 831CduplicationPathogenic
82COL1A1NM_000088.3(COL1A1): c.1200+1G> Asingle nucleotide variantPathogenicrs72648320GRCh37Chr 17, 48272794: 48272794
83COL1A1NM_000088.3(COL1A1): c.3076C> T (p.Arg1026Ter)single nucleotide variantPathogenicrs72653173GRCh37Chr 17, 48266126: 48266126
84COL1A2NM_000089.3(COL1A2): c.838G> A (p.Gly280Ser)single nucleotide variantPathogenicrs72656387GRCh37Chr 7, 94038679: 94038679
85BMP1NM_006129.4(BMP1): c.747C> G (p.Phe249Leu)single nucleotide variantPathogenicrs398122891GRCh37Chr 8, 22035381: 22035381
86BMP1NM_006129.4(BMP1): c.34G> C (p.Gly12Arg)single nucleotide variantPathogenicrs318240762GRCh37Chr 8, 22022952: 22022952
87TMEM38BNG_032971.1: g.32476_53457delinsAATTAAGGTATAindelPathogenicGRCh37Chr 9, 108484281: 108505262
88FKBP10NM_021939.3(FKBP10): c.1207C> T (p.Arg403Ter)single nucleotide variantPathogenicrs372896892GRCh37Chr 17, 39976664: 39976664
89FKBP10NM_021939.3(FKBP10): c.1271_1272delCCinsA (p.Ala424Aspfs)indelPathogenicrs397509383GRCh37Chr 17, 39977213: 39977214
90COL1A1NM_000088.3(COL1A1): c.4247delC (p.Thr1416Argfs)deletionPathogenicrs398122835GRCh37Chr 17, 48263140: 48263140
91COL1A1NM_000088.3(COL1A1): c.4160C> T (p.Ala1387Val)single nucleotide variantPathogenicrs397514672GRCh37Chr 17, 48263227: 48263227
92SERPINF1NM_002615.5(SERPINF1): c.118_119delGT (p.Val40Glyfs)deletionPathogenicrs398122518GRCh37Chr 17, 1673179: 1673180
93SERPINF1NM_002615.5(SERPINF1): c.-9+2dupTduplicationPathogenicrs398122519GRCh37Chr 17, 1665409: 1665409
94SERPINF1NM_002615.5(SERPINF1): c.653delT (p.Val218Glufs)deletionPathogenicrs398122520GRCh37Chr 17, 1678361: 1678361
95FKBP10NM_021939.3(FKBP10): c.948dupT (p.Ile317Tyrfs)duplicationPathogenicrs387907325GRCh37Chr 17, 39975812: 39975813
96WNT1NM_005430.3(WNT1): c.624+4A> Gsingle nucleotide variantPathogenicrs387907354GRCh37Chr 12, 49374476: 49374476
97WNT1NM_005430.3(WNT1): c.565G> T (p.Glu189Ter)single nucleotide variantPathogenicrs387907355GRCh37Chr 12, 49374413: 49374413
98WNT1NM_005430.3(WNT1): c.884C> A (p.Ser295Ter)single nucleotide variantPathogenicrs387907356GRCh37Chr 12, 49375194: 49375194
99WNT1NM_005430.3(WNT1): c.949_950insAACA (p.Ser317Lysfs)insertionPathogenicrs387907357GRCh37Chr 12, 49375259: 49375260
100WNT1NM_005430.3(WNT1): c.1063G> T (p.Val355Phe)single nucleotide variantPathogenicrs387907358GRCh37Chr 12, 49375373: 49375373

Expression for genes affiliated with Osteogenesis Imperfecta

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Search GEO for disease gene expression data for Osteogenesis Imperfecta.

Pathways for genes affiliated with Osteogenesis Imperfecta

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Pathways related to Osteogenesis Imperfecta according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
Show member pathways
10.1COL1A2, COL1A1
29.8IBSP, COL1A1
39.8COL1A2, CD36, COL1A1
Show member pathways
9.8COL1A1, COL1A2, CD36
Show member pathways
9.5FGFR3, COL1A2, BMP1, COL1A1
Show member pathways
Integrin-mediated cell adhesion36
Focal Adhesion36
9.3IBSP, COL1A2, CD36, COL1A1
Show member pathways
Show member pathways

Compounds for genes affiliated with Osteogenesis Imperfecta

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Compounds related to Osteogenesis Imperfecta according to GeneCards Suite gene sharing:

(show top 50)    (show all 64)
idCompoundScoreTop Affiliating Genes
1nppa4410.4COL1A2, COL1A1
2ti6al4v4410.2BGLAP, CD36
322-oxacalcitriol4410.1CD36, BGLAP
4teriparatide44 1111.0BGLAP, CD36
5chlorhexidine gluconate4410.0DSPP, SERPINH1
6etidronate4410.0BGLAP, CD36
7nppb28 44 6012.0COL1A1, COL1A2
8carbodiimide449.9COL1A1, COL1A2, RNASE1
9grgds449.9CD36, IBSP
10silver nitrate449.8CD36, DSPP
11vitamin k2449.8BGLAP, CD36
12methylmethacrylate449.8IBSP, DSPP
13ibandronate44 1110.8CD36, IBSP, BGLAP
14tannins449.7CD36, DSPP
15fluorescein44 1110.7SERPINF1, DSPP, BGLAP
16chitosan449.7CD36, BGLAP, IBSP
17pyridinoline449.7BGLAP, IBSP, CD36
18titanium449.7BGLAP, IBSP, CD36
19glycosaminoglycan449.7IBSP, SERPINF1, COL1A1, CD36
20deoxypyridinoline449.7BGLAP, CD36, IBSP
21zoledronic acid449.7BGLAP, IBSP, CD36
22calcium carbonate449.7BGLAP, DSPP, CD36
23tartrate449.7BGLAP, CD36, DSPP
24polyglycolic acid449.7DSPP, CD36, BGLAP
251,25 dihydroxy vitamin d3449.6COL1A1, IBSP, BGLAP
26alendronate44 50 1111.6CD36, DSPP, BGLAP
27alizarin449.6IBSP, SP7, CD36, BGLAP
28hydroxyproline44 24 1111.6COL1A1, CD36, IBSP, BGLAP
29acetone449.4CD36, RNASE1, DSPP
30sodium fluoride449.3DSPP, BGLAP
31guanidine hydrochloride449.3DSPP, RNASE1, BGLAP
32hydroxyapatite449.2DSPP, CD36, BGLAP, IBSP
33sulfate44 2410.1FGFR3, RNASE1, IBSP
34procollagen449.0COL1A1, CD36, BMP1, SERPINH1, IBSP, BGLAP
35vitamin d448.9CD36, BGLAP, COL1A2, IBSP, DSPP, COL1A1
36aspartate448.8BGLAP, DSPP, RNASE1, BMP1, COL1A1, COL1A2
37paraffin448.8CD36, DSPP, IBSP, BGLAP, FGFR3
38h2o2448.7DSPP, CD36, RNASE1, SERPINF1, BGLAP
39oligonucleotide448.6RNASE1, SERPINH1, COL1A2, COL1A1, IBSP, FGFR3
40alanine448.6BGLAP, DSPP, BMP1, COL1A1, RNASE1
41ascorbic acid44 249.6SP7, BGLAP, CD36, IBSP, DSPP, SERPINH1
42arginine448.5BGLAP, DSPP, FGFR3, RNASE1, BMP1, COL1A1
43heparin44 28 24 1111.5IBSP, RNASE1, SERPINF1, BGLAP, PPIB, BMP1
44dexamethasone44 50 28 1111.3FGFR3, SP7, BGLAP, CD36, DSPP, SERPINF1
45glutamate448.3DSPP, SERPINF1, RNASE1, FGFR3, BMP1, WNT1
46estrogen448.3COL1A1, WNT1, DSPP, IBSP, COL1A2, GLYAT
48cysteine447.5BMP1, BGLAP, IBSP, SERPINF1, RNASE1, DSPP
50calcium44 50 24 1110.1BGLAP, TMEM38B, COL1A1, DSPP, RNASE1, BMP1

GO Terms for genes affiliated with Osteogenesis Imperfecta

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

idNameGO IDScoreTop Affiliating Genes
1collagen type IGO:000558410.1COL1A2, COL1A1
2extracellular matrixGO:00310129.9COL1A1, COL1A2, SERPINF1
3macromolecular complexGO:00329919.8CRTAP, LEPRE1, PPIB
4membrane-bounded vesicleGO:00319889.8BGLAP, BMP1
5proteinaceous extracellular matrixGO:00055789.1BMP1, CRTAP, WNT1, DSPP, LEPRE1
6endoplasmic reticulum lumenGO:00057888.9COL1A1, WNT1, FKBP10, SERPINH1, LEPRE1, PPIB
7extracellular spaceGO:00056158.8WNT1, CRTAP, COL1A2, COL1A1, SERPINF1, BGLAP
8endoplasmic reticulumGO:00057838.8FGFR3, CRTAP, SERPINH1, LEPRE1, PPIB
9extracellular regionGO:00055767.4BGLAP, IBSP, SERPINF1, DSPP, RNASE1, WNT1

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:004358910.3COL1A1, COL1A2
2collagen biosynthetic processGO:003296410.3COL1A1, SERPINH1
3protein heterotrimerizationGO:007020810.3COL1A2, COL1A1
4negative regulation of post-translational protein modificationGO:0190187410.2CRTAP, LEPRE1
5negative regulation of cell-substrate adhesionGO:001081210.2COL1A1, WNT1
6extracellular matrix disassemblyGO:002261710.1BMP1, COL1A1, COL1A2
7osteoblast differentiationGO:000164910.0SP7, BGLAP, COL1A1
8protein peptidyl-prolyl isomerizationGO:000041310.0PPIB, FKBP10
9chaperone-mediated protein foldingGO:006107710.0CRTAP, LEPRE1, PPIB
10odontogenesisGO:004247610.0COL1A2, BGLAP
11collagen fibril organizationGO:00301999.9LEPRE1, SERPINH1, COL1A1, COL1A2
12regulation of bone mineralizationGO:00305009.9IFITM5, BGLAP
13protein stabilizationGO:00508219.9CRTAP, LEPRE1, PPIB
14bone developmentGO:00603489.7WNT1, LEPRE1, BGLAP, PPIB
15endochondral ossificationGO:00019589.6FGFR3, COL1A1
16ossificationGO:00015039.5BMP1, DSPP, IBSP
17biomineral tissue developmentGO:00312149.4DSPP, IBSP
18skeletal system developmentGO:00015019.0BGLAP, DSPP, BMP1, COL1A1, COL1A2, FGFR3
19extracellular matrix organizationGO:00301988.2CRTAP, PPIB, IBSP, LEPRE1, SERPINH1, DSPP

Molecular functions related to Osteogenesis Imperfecta according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor bindingGO:00484079.8COL1A2, COL1A1
2protein complex bindingGO:00324039.7CRTAP, LEPRE1, PPIB
3extracellular matrix structural constituentGO:00052019.5DSPP, COL1A1, COL1A2
4collagen bindingGO:00055189.2DSPP, SERPINH1, LEPRE1, PPIB

Sources for Osteogenesis Imperfecta

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26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet