OI4
MCID: OST121
MIFTS: 48

Osteogenesis Imperfecta, Type Iv (OI4) malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Oral diseases

Aliases & Classifications for Osteogenesis Imperfecta, Type Iv

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Osteogenesis Imperfecta, Type Iv:

Name: Osteogenesis Imperfecta, Type Iv 52
Osteogenesis Imperfecta Type Iv 11 48 70 68
Osteogenesis Imperfecta Type 4 11 54 13
Osteogenesis Imperfecta with Normal Sclerae 48 70
Oi, Type Iv 70 50
Oi Type Iv 48 12
 
Oi Type 4 48 54
Oi4 11 70
Osteogenesis Imperfecta with Normal Sclera 11
Common Variable Oi with Normal Sclerae 48
Osteogenesis Imperfecta 4 70
Oi-Iv 70

Characteristics:

Orphanet epidemiological data:

54
osteogenesis imperfecta type 4:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Sweden); Age of onset: Infancy,Neonatal

HPO:

64
osteogenesis imperfecta, type iv:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 166220
Disease Ontology11 DOID:0110340
ICD1030 Q78.0
Orphanet54 ORPHA216820
MESH via Orphanet40 C536045
UMLS via Orphanet69 C0268363
ICD10 via Orphanet31 Q78.0
MedGen37 C0268363
MeSH39 D010013

Summaries for Osteogenesis Imperfecta, Type Iv

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NIH Rare Diseases:48 Osteogenesis imperfecta type iv (oi type iv) is a type of osteogenesis imperfecta, which refers to a group of conditions that affect the bones. oi type iv is the most variable form of the condition with symptoms ranging from moderately severe to so mild that it may be difficult to make the diagnosis. although signs and symptoms can vary, affected people may experience easily broken bones, mild short stature, dentinogenesis imperfecta, adult-onset hearing loss, and normal-to-grey sclerae (the whites of the eye). oi type iv is caused by changes (mutations) in the col1a1 or col1a2 gene and is inherited in an autosomal dominant manner. there is currently no cure for oi type iv. treatment is supportive and based on the signs and symptoms present in each person. last updated: 1/14/2016

MalaCards based summary: Osteogenesis Imperfecta, Type Iv, also known as osteogenesis imperfecta type iv, is related to common variable osteogenesis imperfecta with normal sclerae and osteogenesis imperfecta, type v, and has symptoms including otosclerosis, hearing impairment and blue sclerae. An important gene associated with Osteogenesis Imperfecta, Type Iv is COL1A2 (Collagen Type I Alpha 2 Chain), and among its related pathways are Development_Hedgehog and PTH signaling pathways in bone and cartilage development and Inflammatory Response Pathway. Affiliated tissues include bone and eye, and related mouse phenotypes are pigmentation and limbs/digits/tail.

Disease Ontology:11 An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has material basis in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.

OMIM:52 Osteogenesis imperfecta (OI) is a connective tissue disorder that is caused by an abnormality of type I collagen in... (166220) more...

UniProtKB/Swiss-Prot:70 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

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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 Bmp1-Related Osteogenesis Imperfecta
Crtap-Related Osteogenesis Imperfecta Fkbp10-Related Osteogenesis Imperfecta
Ifitm5-Related Osteogenesis Imperfecta P3h1-Related Osteogenesis Imperfecta
Ppib-Related Osteogenesis Imperfecta Serpinf1-Related Osteogenesis Imperfecta
Serpinh1-Related Osteogenesis Imperfecta Sp7-Related Osteogenesis Imperfecta
Tmem38b-Related Osteogenesis Imperfecta Sparc-Related Osteogenesis Imperfecta
Wnt1-Related Osteogenesis Imperfecta

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

(show all 40)
idRelated DiseaseScoreTop Affiliating Genes
1common variable osteogenesis imperfecta with normal sclerae11.2
2osteogenesis imperfecta, type v11.1
3osteogenesis imperfecta, type viii10.9
4osteogenesis imperfecta, type xiii10.9
5osteogenesis imperfecta, type xiv10.9
6osteogenesis imperfecta, type xv10.9
7osteogenesis imperfecta10.5
8cngb3-related stargardt disease 110.3COL1A1, COL1A2
9isolated lissencephaly type 1 without known genetic defects10.3COL1A1, COL1A2
10charcot-marie-tooth neuropathy type 2a10.3COL1A1, COL1A2
1120p13 microdeletion syndrome10.3COL1A1, COL1A2
12epileptic encephalopathy, early infantile, 3610.2COL1A1, COL1A2
13factor xiiia deficiency10.2COL1A1, COL1A2
14osteogenesis imperfecta, type iii10.2COL1A1, COL1A2
15interstitial lung and liver disease10.2FKBP10, SP7
16phyh-related refsum disease10.2CD36, COL1A1, COL1A2
17ceroid lipofuscinosis, neuronal, 1110.2CD36, COL1A1, COL1A2
18agraphia10.2CD36, COL1A1, COL1A2
19mental retardation, autosomal recessive 3510.2CD36, COL1A1, COL1A2
20akinetic mutism10.2CD36, SPARC
21inflammatory bowel disease 2210.2CRTAP, FKBP10
22prph2-related retinitis pigmentosa10.1COL1A1, COL1A2, SERPINF1
23porphyria cutanea tarda10.1COL1A1, COL1A2, CRTAP
24long qt syndrome 110.1CD36, COL1A1, COL1A2, SP7
25childhood vagina botryoid rhabdomyosarcoma10.0PKDREJ, SPARC
26human herpesvirus 810.0CD36, COL1A1, COL1A2, CRTAP
27cerebellar ataxia, mental retardation, and dysequilibrium syndrome 210.0COL1A1, COL1A2, SERPINF1, TMEM38B
28clivus meningioma10.0COL1A1, COL1A2, PPIB
29neuroschistosomiasis10.0COL1A2, DSPP
30muscle hypertrophy10.0CD36, COL1A1, COL1A2, DSPP
31hypophosphatasia, childhood9.9COL1A1, DSPP
32deafness, autosomal recessive 619.9CD36, COL1A1, COL1A2, CRTAP, PPIB
33bone structure disease9.9COL1A1, COL1A2, CRTAP, FKBP10, PPIB
34carnitine deficiency, systemic primary9.9CD36, COL1A1, COL1A2, SPARC, WNT1
35diabetic neuropathy9.8COL1A1, COL1A2, CRTAP, DSPP, FKBP10
36autism susceptibility 169.7COL1A1, COL1A2, CRTAP, FKBP10, PPIB, SERPINF1
37xanthinuria9.6CD36, COL1A1, COL1A2, CRTAP, FKBP10, PPIB
38ehlers-danlos syndrome, cardiac valvular form9.4CD36, COL1A1, COL1A2, CRTAP, FKBP10, PPIB
39prostatocystitis8.8CD36, COL1A1, COL1A2, CRTAP, DSPP, FKBP10
40osteogenesis imperfecta, type ii8.3CD36, COL1A1, COL1A2, CRTAP, DSPP, FKBP10

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



Diseases related to osteogenesis imperfecta, type iv

Symptoms & Phenotypes for Osteogenesis Imperfecta, Type Iv

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Symptoms by clinical synopsis from OMIM:

166220

Clinical features from OMIM:

166220

Human phenotypes related to Osteogenesis Imperfecta, Type Iv:

 64 (show all 13)
id Description HPO Frequency HPO Source Accession
1 otosclerosis64 HP:0000362
2 hearing impairment64 HP:0000365
3 blue sclerae64 HP:0000592
4 dentinogenesis imperfecta64 HP:0000703
5 wormian bones64 HP:0002645
6 scoliosis64 HP:0002650
7 recurrent fractures64 HP:0002757
8 kyphosis64 HP:0002808
9 bowing of limbs due to multiple fractures64 HP:0003023
10 biconcave flattened vertebrae64 HP:0003321
11 short stature64 HP:0004322
12 reduced bone mineral density64 HP:0004349
13 femoral bowing present at birth, straightening with time64 HP:0005005

MGI Mouse Phenotypes related to Osteogenesis Imperfecta, Type Iv according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.5COL1A1, GGT1, SERPINF1, SPARC
2MP:00053718.7COL1A1, COL1A2, FKBP10, GGT1, PPIB, SP7
3MP:00053906.2CD36, COL1A1, COL1A2, CRTAP, FKBP10, GGT1

Drugs & Therapeutics for Osteogenesis Imperfecta, Type Iv

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

(show all 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PamidronateapprovedPhase 34440391-99-94674
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
2Hormone AntagonistsPhase 313180
3DiphosphonatesPhase 3450
4Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 313168
5HormonesPhase 314415
6ImmunoglobulinsPhase 16394
7AntibodiesPhase 16394
8Antibodies, MonoclonalPhase 14039

Interventional clinical trials:

idNameStatusNCT IDPhase
1Growth Hormone Therapy in Osteogenesis ImperfectaCompletedNCT00001305Phase 3
2Pamidronate to Treat Osteogenesis Imperfecta in ChildrenCompletedNCT00005901Phase 3
3A Study in Adult Patients With Type I, III or IV Osteogenesis Imperfecta Treated With BPS804RecruitingNCT03118570Phase 2
4Safety of Fresolimumab in the Treatment of Osteogenesis ImperfectaNot yet recruitingNCT03064074Phase 1
5Evaluation and Intervention for the Effects of Osteogenesis ImperfectaRecruitingNCT00001594

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Genetic Tests for Osteogenesis Imperfecta, Type Iv

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Anatomical Context for Osteogenesis Imperfecta, Type Iv

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

36
Bone, Eye

Publications for Osteogenesis Imperfecta, Type Iv

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Articles related to Osteogenesis Imperfecta, Type Iv:

(show all 17)
idTitleAuthorsYear
1
Muscle Function in Osteogenesis Imperfecta Type IV. (28474170)
2017
2
Clinical Application of Antenatal Genetic Diagnosis of Osteogenesis Imperfecta Type IV. (25835785)
2015
3
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
4
Osteogenesis imperfecta type IV: prenatal molecular diagnosis and genetic counseling in a pregnancy carried to full term with favorable outcome. (22795107)
2012
5
Osteogenesis Imperfecta (Type IV) with Dental Findings in Siblings. (22567450)
2011
6
Distinctive tomographic abnormalities of the craniocervical region in a patient with osteogenesis imperfecta type IV B. (20613943)
2010
7
A G560S mutation in alpha1 (I) collagen causes familial osteogenesis imperfecta type IV. (19751715)
2009
8
A variant of osteogenesis imperfecta type IV with resolving kyphomelia is caused by a novel COL1A2 mutation. (11836364)
2002
9
Comparative studies of osteoblast and fibroblast type I collagen in a patient with osteogenesis imperfecta type IV. (11793376)
2002
10
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
11
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
12
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
13
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
14
Expression of mutant alpha (I)-procollagen in osteoblast and fibroblast cultures from a proband with osteogenesis imperfecta type IV. (1642148)
1992
15
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
16
Osteogenesis imperfecta type IV. Detection of a point mutation in one alpha 1(I) collagen allele (COL1A1) by RNA/RNA hybrid analysis. (2745420)
1989
17
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

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

70 (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_001871rs72658147
21COL1A2p.Gly676ValVAR_001875rs66883877
22COL1A2p.Gly751SerVAR_001881rs72658176
23COL1A2p.Gly766ValVAR_001883rs72658183
24COL1A2p.Gly892AspVAR_001892rs72659304
25COL1A2p.Gly1012SerVAR_001897rs72659319
26COL1A2p.Gly1102ArgVAR_001902rs67768540
27COL1A2p.Gly193SerVAR_063343rs72656370
28COL1A2p.Gly202ArgVAR_063344rs72656376
29COL1A2p.Gly256ValVAR_063348rs67525025
30COL1A2p.Gly325GluVAR_063351rs72656395
31COL1A2p.Gly754CysVAR_063366rs72658177

Clinvar genetic disease variations for Osteogenesis Imperfecta, Type Iv:

5 (show all 21)
id Gene Variation Type Significance SNP ID Assembly Location
1COL1A2NM_ 000089.3(COL1A2): c.3034G> C (p.Gly1012Arg)SNVPathogenicrs72659319GRCh37Chr 7, 94055771: 94055771
2COL1A2NM_ 000089.3(COL1A2): c.1936G> T (p.Gly646Cys)SNVPathogenicrs121912903GRCh37Chr 7, 94047108: 94047108
3COL1A2COL1A2, EX26DELdeletionPathogenic
4COL1A2NM_ 000089.3(COL1A2): c.1757G> T (p.Gly586Val)SNVPathogenicrs121912907GRCh37Chr 7, 94044575: 94044575
5COL1A2NM_ 000089.3(COL1A2): c.3279_ 3287delTCCCCCTGG (p.Pro1100_ Gly1102del)deletionPathogenicrs74315103GRCh38Chr 7, 94427638: 94427646
6COL1A2COL1A2, IVS21DS, G-A, +5deletionPathogenic
7COL1A2COL1A2, IVS26DS, A-G, +3SNVPathogenic
8COL1A2NM_ 000089.3(COL1A2): c.1136G> C (p.Gly379Ala)SNVPathogenicrs121912912GRCh37Chr 7, 94039778: 94039778
9COL1A1NM_ 000088.3(COL1A1): c.1057G> T (p.Gly353Cys)SNVPathogenicrs66721653GRCh37Chr 17, 48273026: 48273026
10COL1A1NM_ 000088.3(COL1A1): c.3028G> A (p.Gly1010Ser)SNVPathogenicrs72653169GRCh37Chr 17, 48266281: 48266281
11COL1A1COL1A1, IVS8DS, G-A, +1SNVPathogenic
12COL1A1COL1A1, 3-BP DEL, 1964GGCdeletionPathogenic
13COL1A1COL1A1, IVS19DS, G-C, +1SNVPathogenic
14COL1A1NM_ 000088.3(COL1A1): c.91C> T (p.Gln31Ter)SNVPathogenicrs794726873GRCh37Chr 17, 48278784: 48278784
15COL1A2NM_ 000089.3(COL1A2): c.1971+1G> ASNVPathogenicrs72658151GRCh37Chr 7, 94047144: 94047144
16COL1A2NM_ 000089.3(COL1A2): c.2099G> A (p.Gly700Asp)SNVPathogenicrs72658161GRCh37Chr 7, 94049564: 94049564
17COL1A2NM_ 000089.3(COL1A2): c.3034G> A (p.Gly1012Ser)SNVLikely pathogenicrs72659319GRCh38Chr 7, 94426459: 94426459
18COL1A2NM_ 000089.3(COL1A2): c.2957C> T (p.Pro986Leu)SNVLikely pathogenicrs768171831GRCh37Chr 7, 94055323: 94055323
19COL1A2NM_ 000089.3(COL1A2): c.2738G> T (p.Gly913Val)SNVLikely pathogenicrs886042129GRCh37Chr 7, 94054493: 94054493
20COL1A1NM_ 000088.3(COL1A1): c.472-1G> CSNVPathogenicrs72667020GRCh37Chr 17, 48275866: 48275866
21COL1A2NM_ 000089.3(COL1A2): c.2656G> A (p.Gly886Ser)SNVLikely pathogenicrs886043796GRCh37Chr 7, 94053738: 94053738

Expression for genes affiliated with Osteogenesis Imperfecta, Type Iv

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

Pathways for genes affiliated with Osteogenesis Imperfecta, Type Iv

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GO Terms for genes affiliated with Osteogenesis Imperfecta, Type Iv

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

idNameGO IDScoreTop Affiliating Genes
1collagen type I trimerGO:000558410.8COL1A1, COL1A2
2macromolecular complexGO:003299110.4CRTAP, PPIB
3platelet alpha granule membraneGO:003109210.3CD36, SPARC
4collagen trimerGO:000558110.2CD36, COL1A1, COL1A2
5endoplasmic reticulumGO:00057839.4COL1A1, COL1A2, CRTAP, FKBP10, PPIB, TMEM38B
6endoplasmic reticulum lumenGO:00057889.2COL1A1, COL1A2, CRTAP, FKBP10, PPIB, WNT1
7proteinaceous extracellular matrixGO:00055788.2COL1A1, COL1A2, CRTAP, DSPP, SPARC, WNT1
8extracellular spaceGO:00056157.7CD36, COL1A1, COL1A2, CRTAP, GGT1, SERPINF1

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1collagen fibril organizationGO:003019910.6COL1A1, COL1A2
2protein heterotrimerizationGO:007020810.5COL1A1, COL1A2
3negative regulation of cell-substrate adhesionGO:001081210.4COL1A1, WNT1
4blood coagulationGO:000759610.1CD36, COL1A1, COL1A2
5chaperone-mediated protein foldingGO:006107710.1CRTAP, FKBP10, PPIB
6bone developmentGO:006034810.1PPIB, SPARC, WNT1
7skin morphogenesisGO:004358910.0COL1A1, COL1A2
8ossificationGO:00015039.9COL1A1, DSPP, SPARC
9extracellular matrix organizationGO:00301989.7COL1A1, COL1A2, DSPP, SPARC
10skeletal system developmentGO:00015019.6COL1A1, COL1A2, DSPP

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

idNameGO IDScoreTop Affiliating Genes
1platelet-derived growth factor bindingGO:004840710.0COL1A1, COL1A2
2collagen bindingGO:00055189.7DSPP, PPIB, SPARC
3extracellular matrix structural constituentGO:00052019.6COL1A1, COL1A2, DSPP

Sources for Osteogenesis Imperfecta, Type Iv

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet