MCID: OST121
MIFTS: 45

Osteogenesis Imperfecta, Type Iv malady

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

Aliases & Classifications for Osteogenesis Imperfecta, Type Iv

About this section
Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 67UniProtKB/Swiss-Prot, 51Orphanet, 47Novoseek, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Osteogenesis Imperfecta, Type Iv:

Name: Osteogenesis Imperfecta, Type Iv 49
Oi Type Iv 11 45 67
Osteogenesis Imperfecta with Normal Sclerae 45 67
Osteogenesis Imperfecta Type Iv 65 67
Osteogenesis Imperfecta Type 4 45 51
 
Oi Type 4 45 51
Osteogenesis Imperfecta 4 67
Oi, Type Iv 47
Oi-Iv 67
Oi4 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
osteogenesis imperfecta type 4:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal


External Ids:

OMIM49 166220
Orphanet51 216820
ICD10 via Orphanet28 Q78.0
MESH via Orphanet37 C536045
UMLS via Orphanet66 C0268363
MedGen34 C0268363
MeSH36 D010013

Summaries for Osteogenesis Imperfecta, Type Iv

About this section
OMIM:49 Osteogenesis imperfecta (OI) is a connective tissue disorder that is caused by an abnormality of type I collagen in... (166220) more...

MalaCards based summary: Osteogenesis Imperfecta, Type Iv, also known as oi type iv, is related to osteogenesis imperfecta, type iii and osteogenesis imperfecta, and has symptoms including blue sclerae, autosomal dominant inheritance and otosclerosis. An important gene associated with Osteogenesis Imperfecta, Type Iv is COL1A2 (Collagen, Type I, Alpha 2), and among its related pathways are Inflammatory Response Pathway and VEGFR3 signaling in lymphatic endothelium. Affiliated tissues include bone, and related mouse phenotypes are limbs/digits/tail and mortality/aging.

UniProtKB/Swiss-Prot:67 Osteogenesis imperfecta 4: 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. OI4 is characterized by moderately short stature, mild to moderate scoliosis, grayish or white sclera and dentinogenesis imperfecta.

Related Diseases for Osteogenesis Imperfecta, Type Iv

About this section

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 Osteogenesis Imperfecta Type 1a
Osteogenesis Imperfecta Type 2a Osteogenesis Imperfecta Type 2b
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
Wnt1-Related Osteogenesis Imperfecta Sparc-Related Osteogenesis Imperfecta

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

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1osteogenesis imperfecta, type iii29.7CD36, COL1A1, COL1A2, COL5A1, CRTAP, FKBP10
2osteogenesis imperfecta10.9
3osteogenesis imperfecta, type v10.3
4common variable osteogenesis imperfecta with normal sclerae10.3
5osteolysis syndrome recessive10.3COL1A1, COL1A2
6classic rett syndrome10.3COL1A1, COL1A2
7congenital trigeminal anesthesia10.3COL1A1, COL1A2
8idiopathic linear interstitial keratitis10.3COL1A1, COL1A2
9col4a1-related disorders10.3COL1A1, COL1A2
10eif4g1-related parkinson disease10.3COL1A1, COL1A2
11larsen-like syndrome10.3COL1A1, COL1A2
12osteogenesis imperfecta, type viii10.2
13osteogenesis imperfecta, type xiii10.2
14osteogenesis imperfecta, type xiv10.2
15osteogenesis imperfecta, type xv10.2
16pervasive developmental disorder not otherwise specified10.2CD36, COL1A1, COL1A2
17osteogenesis imperfecta, type vii10.2CD36, CRTAP
18ehlers-danlos syndrome, type viib10.2COL1A1, COL1A2, COL5A1
19cogan-reese syndrome10.2CD36, COL1A1, COL1A2
20ehlers-danlos syndrome, type vi10.2COL1A1, COL5A1
21anterior cruciate ligament tears10.1COL1A1, COL1A2
22colon adenocarcinoma10.1COL1A1, COL1A2, COL5A1
23pontocerebellar hypoplasia, type 2e10.1FKBP10, SERPINF1
24oral mucosa leukoplakia10.1COL5A1, CRTAP
25osteogenesis imperfecta congenita microcephaly and cataracts10.1CD36, SPARC
26bruck syndrome 110.1FKBP10, SP7
27ehrlichiosis10.1COL1A1, COL1A2, COL5A1
28caffey disease10.1CD36, COL1A1, COL1A2, COL5A1
29mental retardation, autosomal recessive 3510.1CD36, COL1A1, COL1A2, COL5A1
30ehlers-danlos syndrome, classic type10.1CD36, COL1A1, COL1A2, COL5A1
31inflammatory bowel disease 2210.1FKBP10, SP7
32bone ewing's sarcoma10.1COL1A1, COL1A2, CRTAP
33splenic flexure cancer10.0COL1A1, COL1A2
34duane retraction syndrome10.0COL1A1, WNT1
35long bones of lower limb cancer10.0SP7, SPARC
36constipation10.0COL1A1, COL1A2, COL5A1, PPIB
37osteogenesis imperfecta, type xii10.0FKBP10, SERPINF1, SP7
38anodontia10.0COL1A2, DSPP
39osteomyelitis9.9COL1A1, COL1A2, CRTAP, SP7
40autosomal dominant microcephaly9.9COL1A1, COL1A2, COL5A1, DSPP
41osteogenesis imperfecta, type ii9.8CD36, COL1A1, COL1A2, COL5A1, CRTAP, PPIB
42depressed scar9.6COL1A1, COL1A2, CRTAP, DSPP, FKBP10
43xanthinuria9.5CD36, COL1A1, COL1A2, CRTAP, FKBP10, PPIB
44osteoporosis9.5CD36, COL1A1, COL1A2, COL5A1, SP7, SPARC
45sapho syndrome8.5CD36, COL1A1, COL1A2, CRTAP, DSPP, FKBP10
46osteogenesis imperfecta, type iv8.2CD36, COL1A1, COL1A2, COL5A1, CRTAP, DSPP

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



Diseases related to osteogenesis imperfecta, type iv

Symptoms for Osteogenesis Imperfecta, Type Iv

About this section

Symptoms by clinical synopsis from OMIM:

166220

Clinical features from OMIM:

166220

HPO human phenotypes related to Osteogenesis Imperfecta, Type Iv:

(show all 14)
id Description Frequency HPO Source Accession
1 blue sclerae 10% HP:0000592
2 autosomal dominant inheritance HP:0000006
3 otosclerosis HP:0000362
4 hearing impairment HP:0000365
5 dentinogenesis imperfecta HP:0000703
6 wormian bones HP:0002645
7 scoliosis HP:0002650
8 recurrent fractures HP:0002757
9 kyphosis HP:0002808
10 bowing of limbs due to multiple fractures HP:0003023
11 biconcave flattened vertebrae HP:0003321
12 short stature HP:0004322
13 reduced bone mineral density HP:0004349
14 femoral bowing present at birth, straightening with time HP:0005005

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Iv

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PamidronateapprovedPhase 34240391-99-94674
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 3369

Interventional clinical trials:

idNameStatusNCT IDPhase
1Pamidronate to Treat Osteogenesis Imperfecta in ChildrenCompletedNCT00005901Phase 3
2Growth Hormone Therapy in Osteogenesis ImperfectaActive, not recruitingNCT00001305Phase 3
3Evaluation and Intervention for the Effects of Osteogenesis ImperfectaRecruitingNCT00001594

Search NIH Clinical Center for Osteogenesis Imperfecta, Type Iv

Genetic Tests for Osteogenesis Imperfecta, Type Iv

About this section

Anatomical Context for Osteogenesis Imperfecta, Type Iv

About this section

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

33
Bone

Animal Models for Osteogenesis Imperfecta, Type Iv or affiliated genes

About this section

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Iv:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.6COL1A1, COL1A2, FKBP10, GGT1, SP7
2MP:00107687.0CD36, COL1A1, COL1A2, COL5A1, GGT1, PPIB
3MP:00053907.0CD36, COL1A1, COL1A2, CRTAP, GGT1, PPIB

Publications for Osteogenesis Imperfecta, Type Iv

About this section

Articles related to Osteogenesis Imperfecta, Type Iv:

(show all 16)
idTitleAuthorsYear
1
Clinical Application of Antenatal Genetic Diagnosis of Osteogenesis Imperfecta Type IV. (25835785)
2015
2
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)
2013
3
Osteogenesis imperfecta type IV: prenatal molecular diagnosis and genetic counseling in a pregnancy carried to full term with favorable outcome. (22795107)
2012
4
Osteogenesis Imperfecta (Type IV) with Dental Findings in Siblings. (22567450)
2011
5
Distinctive tomographic abnormalities of the craniocervical region in a patient with osteogenesis imperfecta type IV B. (20613943)
2010
6
A G560S mutation in alpha1 (I) collagen causes familial osteogenesis imperfecta type IV. (19751715)
2009
7
Comparative studies of osteoblast and fibroblast type I collagen in a patient with osteogenesis imperfecta type IV. (11793376)
2002
8
A variant of osteogenesis imperfecta type IV with resolving kyphomelia is caused by a novel COL1A2 mutation. (11836364)
2002
9
Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen. (9600458)
1998
10
Phenotypic comparison of an osteogenesis imperfecta type IV proband with a de novo alpha2(I) Gly922 --> Ser substitution in type I collagen and an unrelated patient with an identical mutation. (9367795)
1997
11
Deletion of a Gly-Pro-Pro repeat in the pro alpha2(I) chain of procollagen I in a family with dominant osteogenesis imperfecta type IV. (8786065)
1996
12
Substitution of serine for glycine 883 in the triple helix of the pro alpha 1 (I) chain of type I procollagen produces osteogenesis imperfecta type IV and introduces a structural change in the triple helix that does not alter cleavage of the molecule by procollagen N- proteinase. (7982948)
1994
13
Expression of mutant alpha (I)-procollagen in osteoblast and fibroblast cultures from a proband with osteogenesis imperfecta type IV. (1642148)
1992
14
Characterization of a type I collagen alpha 2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV. Detection of the mutation and prenatal diagnosis by a chemical cleavage method. (2064612)
1991
15
Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis. (2745420)
1989
16
Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype. (2897363)
1988

Variations for Osteogenesis Imperfecta, Type Iv

About this section

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

67 (show all 31)
id Symbol AA change Variation ID SNP ID
1COL1A1p.Gly353CysVAR_001652
2COL1A1p.Gly356CysVAR_001653
3COL1A1p.Gly383CysVAR_001654
4COL1A1p.Gly398AlaVAR_001657
5COL1A1p.Gly401CysVAR_001659
6COL1A1p.Gly527CysVAR_001665
7COL1A1p.Gly530SerVAR_001666
8COL1A1p.Gly560SerVAR_001668
9COL1A1p.Gly560CysVAR_001669
10COL1A1p.Gly593CysVAR_001673
11COL1A1p.Gly701CysVAR_001677
12COL1A1p.Gly1010SerVAR_001701
13COL1A1p.Gly1058SerVAR_001709
14COL1A1p.Gly1061SerVAR_001711
15COL1A1p.Gly197ArgVAR_063293
16COL1A1p.Gly257ArgVAR_063297
17COL1A1p.Gly338CysVAR_063303
18COL1A1p.Gly353SerVAR_063306
19COL1A1p.Gly683SerVAR_063320
20COL1A2p.Gly634ValVAR_001871
21COL1A2p.Gly676ValVAR_001875
22COL1A2p.Gly751SerVAR_001881
23COL1A2p.Gly766ValVAR_001883
24COL1A2p.Gly892AspVAR_001892
25COL1A2p.Gly1012SerVAR_001897
26COL1A2p.Gly1102ArgVAR_001902
27COL1A2p.Gly193SerVAR_063343
28COL1A2p.Gly202ArgVAR_063344
29COL1A2p.Gly256ValVAR_063348
30COL1A2p.Gly325GluVAR_063351
31COL1A2p.Gly754CysVAR_063366

Clinvar genetic disease variations for Osteogenesis Imperfecta, Type Iv:

5 (show all 18)
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.1936G> T (p.Gly646Cys)single nucleotide variantPathogenicrs121912903GRCh37Chr 7, 94047108: 94047108
3COL1A2COL1A2, EX26DELdeletionPathogenic
4COL1A2NM_000089.3(COL1A2): c.1757G> T (p.Gly586Val)single nucleotide variantPathogenicrs121912907GRCh37Chr 7, 94044575: 94044575
5COL1A2NM_000089.3(COL1A2): c.3279_3287delTCCCCCTGG (p.Pro1100_Gly1102del)deletionPathogenicrs74315103GRCh37Chr 7, 94056950: 94056958
6COL1A2COL1A2, IVS21DS, G-A, +5deletionPathogenic
7COL1A2COL1A2, IVS26DS, A-G, +3single nucleotide variantPathogenic
8COL1A2NM_000089.3(COL1A2): c.1136G> C (p.Gly379Ala)single nucleotide variantPathogenicrs121912912GRCh37Chr 7, 94039778: 94039778
9COL1A1NM_000088.3(COL1A1): c.1057G> T (p.Gly353Cys)single nucleotide variantPathogenicrs66721653GRCh37Chr 17, 48273026: 48273026
10COL1A1NM_000088.3(COL1A1): c.3028G> A (p.Gly1010Ser)single nucleotide variantPathogenicrs72653169GRCh37Chr 17, 48266281: 48266281
11COL1A1COL1A1, IVS8DS, G-A, +1single nucleotide variantPathogenic
12COL1A1COL1A1, 3-BP DEL, 1964GGCdeletionPathogenic
13COL1A1COL1A1, IVS19DS, G-C, +1single nucleotide variantPathogenic
14COL1A1NM_000088.3(COL1A1): c.91C> T (p.Gln31Ter)single nucleotide variantPathogenicrs794726873GRCh37Chr 17, 48278784: 48278784
15COL1A2NM_000089.3(COL1A2): c.1971+1G> Asingle nucleotide variantPathogenicrs72658151GRCh37Chr 7, 94047144: 94047144
16COL1A2NM_000089.3(COL1A2): c.2099G> A (p.Gly700Asp)single nucleotide variantPathogenicrs72658161GRCh37Chr 7, 94049564: 94049564
17COL1A2NM_000089.3(COL1A2): c.3034G> A (p.Gly1012Ser)single nucleotide variantLikely pathogenicrs72659319GRCh37Chr 7, 94055771: 94055771
18COL1A2NM_000089.3(COL1A2): c.2957C> T (p.Pro986Leu)single nucleotide variantLikely pathogenicrs768171831GRCh37Chr 7, 94055323: 94055323

Expression for genes affiliated with Osteogenesis Imperfecta, Type Iv

About this section
Search GEO for disease gene expression data for Osteogenesis Imperfecta, Type Iv.

Pathways for genes affiliated with Osteogenesis Imperfecta, Type Iv

About this section

GO Terms for genes affiliated with Osteogenesis Imperfecta, Type Iv

About this section

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

idNameGO IDScoreTop Affiliating Genes
1collagen type I trimerGO:000558410.7COL1A1, COL1A2
2macromolecular complexGO:003299110.3CRTAP, PPIB
3platelet alpha granule membraneGO:003109210.3CD36, SPARC
4collagen trimerGO:00055819.8COL1A1, COL1A2, COL5A1
5basement membraneGO:00056049.7COL5A1, SERPINF1, SPARC
6extracellular matrixGO:00310129.3COL1A1, COL1A2, COL5A1, SERPINF1
7proteinaceous extracellular matrixGO:00055788.1COL1A1, COL5A1, CRTAP, DSPP, SPARC, WNT1
8endoplasmic reticulum lumenGO:00057887.9COL1A1, COL1A2, COL5A1, CRTAP, FKBP10, PPIB
9extracellular regionGO:00055767.4COL1A1, COL1A2, COL5A1, DSPP, SERPINF1, SPARC
10extracellular spaceGO:00056157.3CD36, COL1A1, COL1A2, CRTAP, GGT1, SERPINF1

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1skin morphogenesisGO:004358910.7COL1A1, COL1A2
2collagen biosynthetic processGO:003296410.5COL1A1, COL5A1
3protein heterotrimerizationGO:007020810.5COL1A1, COL1A2
4negative regulation of cell-substrate adhesionGO:001081210.2COL1A1, WNT1
5blood vessel developmentGO:000156810.1COL1A1, COL1A2, COL5A1
6collagen fibril organizationGO:003019910.1COL1A1, COL1A2, COL5A1
7extracellular matrix disassemblyGO:002261710.0COL1A1, COL1A2, COL5A1
8collagen catabolic processGO:003057410.0COL1A1, COL1A2, COL5A1
9chaperone-mediated protein foldingGO:00610779.7CRTAP, FKBP10, PPIB
10bone developmentGO:00603489.6PPIB, SPARC, WNT1
11skeletal system developmentGO:00015019.5COL1A1, COL1A2, DSPP
12ossificationGO:00015039.5COL1A1, DSPP, SPARC
13receptor-mediated endocytosisGO:00068989.5CD36, COL1A1, COL1A2, SPARC
14blood coagulationGO:00075969.1CD36, COL1A1, COL1A2, SPARC
15platelet activationGO:00301688.9CD36, COL1A1, COL1A2, SPARC
16extracellular matrix organizationGO:00301987.8COL1A1, COL1A2, COL5A1, CRTAP, DSPP, PPIB

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

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor bindingGO:00484079.7COL1A1, COL1A2, COL5A1
2collagen bindingGO:00055189.2DSPP, PPIB, SPARC
3extracellular matrix structural constituentGO:00052018.6COL1A1, COL1A2, COL5A1, DSPP

Sources for Osteogenesis Imperfecta, Type Iv

About this section
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